[Senate Hearing 113-267]
[From the U.S. Government Publishing Office]
S. Hrg. 113-267
NEWBORN SCREENING SAVES LIVES: THE PAST, PRESENT, AND FUTURE OF THE
NEWBORN SCREENING SYSTEM
=======================================================================
HEARING
BEFORE THE
SUBCOMMITTEE ON CHILDREN AND FAMILIES
OF THE
COMMITTEE ON HEALTH, EDUCATION,
LABOR, AND PENSIONS
UNITED STATES SENATE
ONE HUNDRED THIRTEENTH CONGRESS
FIRST SESSION
ON
EXAMINING HOW NEWBORN SCREENING SAVES LIVES, FOCUSING ON THE PAST,
PRESENT, AND FUTURE OF THE NEWBORN SCREENING SYSTEM
__________
SEPTEMBER 26, 2013
__________
Printed for the use of the Committee on Health, Education, Labor, and
Pensions
Available via the World Wide Web: http://www.gpo.gov/fdsys/
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COMMITTEE ON HEALTH, EDUCATION, LABOR, AND PENSIONS
TOM HARKIN, Iowa, Chairman
BARBARA A. MIKULSKI, Maryland LAMAR ALEXANDER, Tennessee
PATTY MURRAY, Washington MICHAEL B. ENZI, Wyoming
BERNARD SANDERS (I), Vermont RICHARD BURR, North Carolina
ROBERT P. CASEY, JR., Pennsylvania JOHNNY ISAKSON, Georgia
KAY R. HAGAN, North Carolina RAND PAUL, Kentucky
AL FRANKEN, Minnesota ORRIN G. HATCH, Utah
MICHAEL F. BENNET, Colorado PAT ROBERTS, Kansas
SHELDON WHITEHOUSE, Rhode Island LISA MURKOWSKI, Alaska
TAMMY BALDWIN, Wisconsin MARK KIRK, Illinois
CHRISTOPHER S. MURPHY, Connecticut TIM SCOTT, South Carolina
ELIZABETH WARREN, Massachusetts
Pamela J. Smith, Staff Director, Chief Counsel
Lauren McFerran, Deputy Staff Director
David P. Cleary, Republican Staff Director
______
Subcommittee on Children and Families
KAY R. HAGAN, North Carolina, Chairman
BARBARA A. MIKULSKI, Maryland MICHAEL B. ENZI, Wyoming
PATTY MURRAY, Washington MARK KIRK, Illinois
BERNARD SANDERS (I), Vermont RICHARD BURR, North Carolina
ROBERT P. CASEY, JR., Pennsylvania JOHNNY ISAKSON, Georgia
AL FRANKEN, Minnesota RAND PAUL, Kentucky
MICHAEL BENNET, Colorado ORRIN G. HATCH, Utah
CHRISTOPHER S. MURPHY, Connecticut PAT ROBERTS, Kansas
ELIZABETH WARREN, Massachusetts LAMAR ALEXANDER, Tennessee (ex
TOM HARKIN, Iowa (ex officio) officio)
Josh Teitelbaum, Staff Director
(ii)
C O N T E N T S
__________
STATEMENTS
THURSDAY, SEPTEMBER 26, 2013
Page
Committee Members
Hagan, Hon. Kay R., Chairman, Subcommittee on Children and
Families, opening statement.................................... 1
Enzi, Hon. Michael B., a U.S. Senator from the State of Wyoming,
opening statement.............................................. 3
Casey, Hon. Robert P., Jr., a U.S. Senator from the State of
Pennsylvania................................................... 23
Prepared statement........................................... 25
Witnesses
Bonhomme, Natasha, Director, Baby's First Test, Washington, DC... 4
Prepared statement........................................... 5
Howell, R. Rodney, M.D., Professor of Pediatrics, University of
Miami School of Medicine, Miami, FL............................ 8
Prepared statement........................................... 9
Howse, Jennifer L., Ph.D., President, March of Dimes, Washington,
DC............................................................. 12
Prepared statement........................................... 14
Mullis, Joye, Raleigh, NC........................................ 17
Prepared statement........................................... 18
ADDITIONAL MATERIAL
Statements, articles, publications, letters, etc.:
Marcia Boyle, President and Founder, Immune Deficiency
Foundation................................................. 38
Response to questions of Senator Warren by:
Natasha Bonhomme......................................... 39
R. Rodney Howell, M.D.................................... 40
Jennifer L. Howse, Ph.D.................................. 41
(iii)
NEWBORN SCREENING SAVES LIVES: THE PAST, PRESENT, AND FUTURE OF THE
NEWBORN SCREENING SYSTEM
----------
THURSDAY, SEPTEMBER 26, 2013
U.S. Senate,
Subcommittee on Children and Families,
Committee on Health, Education, Labor, and Pensions,
Washington, DC.
The subcommittee met, pursuant to notice, at 10:03 a.m. in
Room SD-430, Dirksen Senate Office Building, Hon. Kay Hagan,
chairman of the subcommittee, presiding.
Present: Senators Hagan, Casey, and Enzi
Opening Statement of Senator Hagan
Senator Hagan. I want to welcome everyone to this morning's
hearing in the HELP committee's subcommittee on Children and
Families.
I want to thank all of our witnesses. Thank you for being
here today, thank you for your work, and thanks for taking the
time to come from all across the country. I really look forward
to hearing your testimony.
I want to especially thank our Ranking Member, Senator
Enzi, for his work and for his staff's work on this hearing. I
am sincerely looking forward to working with my colleague to
move the reauthorization of the Newborn Screening Saves Lives
Act throughout the Senate this Congress, and I am proud to have
you as a cosponsor of this bipartisan bill. Thank you, Senator
Enzi.
This morning, we are here to discuss the past, the present,
and the future of the newborn screening system in the United
States. I sit not just as chairman of this subcommittee, but as
a chair mom, because as a mother of three, I know from personal
experience that when you have a child, your first hope and
prayer is that your child is healthy. ``Let our child be
healthy,'' every family says. That is the one thing that every
parent is praying for.
And thanks to advances to medical technology, the vision of
medical professionals, and the daily work of nurses, doctors,
and lab technicians, we now have the ability to detect and to
treat dozens of life threatening conditions before they are
able to cause serious harm. But it was not always this way.
Our system has developed over the course of decades. In
fact, this month, we recognize the 50th anniversary of newborn
screening. In 1963, Massachusetts, Delaware, and Oregon became
the first States in the Nation to mandate universal newborn
screening, and the first condition that we screened for was
PKU.
About 1 baby in 19,000 is born with PKU in the United
States every year. These babies appear normal for the first few
months of life, but unprocessed proteins will build up in their
bloodstream and cause developmental delays if no action is
taken. Thanks to the dried blood spot test that Dr. Guthrie
developed so many years ago--and that we still use today--
babies can avoid that fate with simple changes to their diet;
just amazing.
Later, screens were developed for new conditions like
sickle cell disease and cystic fibrosis, and new technology,
like tandem mass spectrometry and DNA extraction, drastically
expanded our ability to quickly and accurately screen newborns
for many more conditions with shorter waiting times for
results. These advantages are lifesaving, but only for those
who lived in the States where they were actually implemented.
Some States lagged behind others in adopting new methods
and technologies. As a result, a baby born with a condition
that is inherited might receive the proper treatment in one
State, but go undetected in another.
In fact, in this very room, 11 years ago in the last
hearing that the Senate held on newborn screening 11 years ago,
Senator Chris Dodd, who was then the chairman of this
subcommittee said, ``There is an enormous disparity in the
newborn screening between the various States in our country.
Only two States,'' at that time, ``Only two States will test
for all 30 disorders. The vast majority test for 8 or fewer.''
That was 11 years ago.
The situation cried out for Federal leadership. Thanks to
the work of Dr. Rodney Howell--who was the first chairman of
the Secretary's Advisory Committee on Heritable Disorders--Dr.
Howell is with us today, and I am so pleased. I thank you for
your work over so many years. In addition, thanks to the work
of the American College of Medical Genetics, the March of
Dimes, the Department of Health and Human Services, and many
others, a consensus document was developed that recommended to
the States which conditions to screen for.
Congress also recognized the problem and passed the Newborn
Screening Saves Lives Act of 2008, which cemented the role of
the advisory committee in reviewing new conditions, and
established Federal support for educating parents, researching
new screening technologies, and ensuring the validity of
existing screening tests. Today, all the States in the United
States screen for at least 27 out of 31 recommended conditions.
This is a dramatic improvement and a triumph for the American
people.
In 2011, the CDC recognized the advances in newborn
screening as 1 of the 10 great public achievements in the
United States for the decade 2001 to 2010. I think that is
something that we, in America, have to really be proud of.
That is why I am proud to take the lead with Senator Hatch
on this reauthorization in building on the progress we have
made so far by reauthorizing the Newborn Screening Saves Lives
Act. Our bipartisan bill, of which Senator Enzi is a sponsor,
focuses on: ensuring followup care for all newborns, expanding
research on the long-term health impacts of newborn screening,
establishing time-
lines for the review of new conditions to recommended States
for screening, and continuing NIH research aimed at identifying
new treatments for conditions that can be detected through
newborn screening, and developing new screening technologies.
I look forward to working with the cosponsors of this
bill--Senator Hatch, Senator Casey, Senator Enzi, and hopefully
many others--to pass this bill this Congress. Simply put,
newborn screening saves lives.
To tell us how this system works from a variety of
perspectives, we have a great panel of witnesses today. I ask
each of our witnesses to keep your opening statements to less
than 5 minutes, and I thank you for your written statements,
which have been submitted for the record.
I now want to turn to my colleague, Senator Enzi, for his
opening remarks.
Opening Statement of Senator Enzi
Senator Enzi. Well, thank you, Chairman Hagan. I appreciate
the great work of you, and Senator Hatch, in coming up with
this bill, and the history that you just covered. It is very
helpful.
I appreciate the witnesses who have taken valuable time out
of their time to help educate us. And the record will
definitely do that with all of the Senators so that hopefully
we can get this brought up before the full committee, get it
onto the floor, and get it taken care of.
I have said before, and I think it is even truer today,
that we need to spend more time listening to the thoughts and
ideas of our constituents rather than presuming that we, here
in Washington, have all the answers.
Screening every new baby for these serious health
conditions--many of which would be otherwise undetectable for
months or even years--is an important public health priority
for States and the Federal Government. I think Mrs. Mullis'
testimony will underscore just how meaningful these screenings
programs are for the children and families whose lives are
affected by these terrible health problems.
Therefore, I am particularly pleased to see that Chairman
Hagan's bill improves the process for Health and Human
Services, and the advisory committee, to review the evidence on
potential new screening tests, and places a priority on
screening for conditions where new treatments or therapies
might already be in the works. We must continue to support
medical and scientific innovation along with basic research if
there is to be hope that we can further improve the lives of
babies and children afflicted with these conditions.
Again, I look forward to hearing from all of the witnesses
about the significant health benefits that newborn screening
programs have provided for the last 50 years, as well as what
they envision for the future of newborn screening.
I want to thank you all for being here and I know that
afterwards, the record will be open for additional questions
too for those who are not able to make it to the hearing. Thank
you very much for participating and thank you, Chairman Hagan.
Senator Hagan. Thank you, Ranking Member Enzi. I am so glad
we can work together on this bipartisan bill. It is always a
pleasure to work with my colleague, Senator Enzi.
Our first witness today is Ms. Natasha Bonhomme, the
director of Baby's First Test, our Nation's clearinghouse of
newborn screening information and education for parents and
healthcare professionals.
Miss Bonhomme.
STATEMENT OF NATASHA BONHOMME, DIRECTOR,
BABY'S FIRST TEST, WASHINGTON, DC
Ms. Bonhomme. Chairman Hagan, Ranking Member Enzi, good
morning.
Thank you for the opportunity to testify today on this
important hearing about newborn screening. I am Natasha
Bonhomme, director of Baby's First Test, the Nation's newborn
screening clearinghouse. We offer families and healthcare
professionals support throughout the newborn screening
experience. In addition to being there when families need
resources most, we bring family and public perspectives to the
newborn screening dialog.
Imagine it is 2008 and you are a new parent. You receive a
call from the pediatrician on a Friday afternoon and learn that
your baby's newborn screening results were not normal. During
the 7 years I have worked in newborn screening, countless
parents have described this scenario to me. They explain the
anguish they felt as they had nowhere to turn to until the
following week when the doctor's office was open. Fast forward
to today and now 24 hours a day, 7 days a week, we are there
for them.
It is critical to ask: what do parents want and need in
regards to newborn screening? In 2008, Genetic Alliance, the
parent organization of Baby's First Test, and our partners,
conducted surveys and focus groups with over 2,000 women to
understand their attitudes and perspectives on newborn
screening.
Some of the key findings of this survey were that 98
percent believe that newborns should be screened for conditions
where early diagnosis can make a difference. More than 94
percent believe that newborn screening was important to improve
the health of babies. There are few programs we can turn to
that have this level of public support. It is clear to the vast
majority of people that because newborn screening has the
ability to save and improve lives, it should receive strong
support. While 1 in 300 babies are identified with a treatable
condition, this program reaches nearly all of the 4 million
babies born in this country annually.
A key need of parents and the public is actionable
information. Of those surveyed, 93 percent wanted information
on what happens if there is an abnormal result and 89 percent
wanted to know what specific conditions their baby would be
screened for.
During the same period of time, we were conducting our
research. The Newborn Screening Saves Lives Act became law.
This law provides a national framework to support education and
evaluation programs. The information gathered from parents,
health-
care professionals, State newborn screening programs, and other
experts in the field helped us design the structure and the
content of the newborn screening clearinghouse, also supported
by the Newborn Screening Saves Lives Act.
Fully launched 2 years ago, nearly 80 percent of our
visitors are new to the site. This is to be expected as every
day, thousands of babies are born and screened, and parents
must learn all that they can about their new baby. We average
more than 15,000 visits per month, and this grows steadily as
we are able to get the word out about this resource.
Some of the key components of the online clearinghouse
include: comprehensive and specific details on all 50 State and
territory newborn screening programs. The vast majority of
parents and providers find this offering indispensable.
We also provide information on what exactly newborn
screening is, what to do if there is an abnormal result, as
well as condition-specific information such as description,
followup care, as well as support services. We also have
information for health professionals, including links to
diagnostic protocols, trainings and tool kits, and
communication guides on how to speak to families about
screening.
While the clearinghouse has made great strides since its
launch, we are eager to do more. This year, we plan to develop
a Spanish language version of the site that not only provides a
translation of all 100,000 pages of newborn screening content
that we have, but also addresses specific issues and concerns
of the Latino community in a culturally competent fashion.
We also plan to conduct a followup national survey to
evaluate newborn screening awareness initiatives and to track
the needs of parents.
The Newborn Screening Saves Lives Act has been instrumental
in educating parents and providing support for newborn
screening. This year, we celebrate 50 years of newborn
screening. However, we know that most expecting and new parents
still do not know what newborn screening is and what their
State screens for. We are working to change that. As our data
shows, newborn screening is the first step in a healthy start
for our Nation's youngest citizens.
Thank you for this opportunity to speak to the
subcommittee. I look forward to answering any of your
questions.
[The prepared statement of Ms. Bonhomme follows:]
Prepared Statement of Natasha F. Bonhomme
Chairman Hagan, Ranking Member Enzi, and members of the
subcommittee--good morning. Thank you for the opportunity to testify
today at this important hearing about newborn screening.
I am Natasha Bonhomme, director of Baby's First Test, the Nation's
Newborn Screening Clearinghouse, the premier resource for newborn
screening. We offer families and healthcare providers support
throughout the newborn screening experience. In addition to being there
when families need resources most and providing up to date information
in an accessible manner, we bring family and public perspectives to the
newborn screening dialog. By increasing awareness, Baby's First Test
offers millions of newborns and their families a chance at a healthy
and informed start.
Imagine it is 2010 and you are a new parent. You receive a call
from the pediatrician on a Friday afternoon and learned that your
baby's newborn screening results were not normal. During the 7 years I
have worked in newborn screening, countless parents have described this
scenario to me, and they explain the anguish they felt as they had
nowhere to turn until the following week when the doctor's office was
open. Fast forward to today, and now 24 hours a day, 7 days a week, we
are there for them.
what does the public think?
It is critical to ask: ``What do parents want and need? '' when
considering newborn screening. In 2008, Genetic Alliance, the parent
organization of Baby's First Test, and partners conducted surveys and
focus groups with more than 2,000 women about their attitudes and
perspectives on newborn screening. This group was representative of the
Nation at that time in regards to race/ethnicity and socio-economic
status. Some key findings of this survey are:
98 percent believed that newborns should be screened for
conditions where early diagnosis can make a difference.
More than 95 percent believed that newborn screening was
important to help families prepare to care for a child with a
condition.
More than 94 percent believed that newborn screening was
important to improve the health of babies.
There are few programs we can turn to that have this level of
public support. It is clear to the vast majority of people that because
newborn screening has the ability to save and improve lives, it should
receive strong support. While 1 in 300 babies are identified with a
treatable condition found through newborn screening, this program
reaches nearly all of the 4 million babies born in this country
annually.
communication
From the research we conducted, a key need of parents and the
public is actionable information.
86 percent wanted information on newborn screening either
while planning a pregnancy or during the pregnancy. Only 44 percent
remembered receiving information during this timeframe.
93 percent wanted information on what happens if there is
an abnormal result.
89 percent wanted to know what specific conditions their
baby was screened for.
88 percent wanted to know how they would be told of the
results.
During our focus groups with families who had experienced an out-
of-range result, yet had a healthy child (also know as a false positive
result), parents told us about receiving a phone call from their
pediatrician's office saying that something was wrong with the newborn
screening results. Countless times parents said that they received
little to no information about the condition and no resources on where
they could learn more. On multiple occasions, these calls came before
the weekend, leaving sleep deprived new parents to find information on
next steps on their own. Now, 24 hours a day, 7 days a week, parents
have a place to turn.
newborn screening clearinghouse
During the same period of time we were conducting our research, the
Newborn Screening Saves Lives Act became law. This law provides a
national framework to support educational programs for parents and
grant initiatives for followup care. The information gathered from
parents, healthcare professionals, State newborn screening programs,
and other experts in the field helped us formed the basis for the
structure and content of the Newborn Screening Clearinghouse, also
supported by the Newborn Screening Saves Lives Act. Fully launched 2
years ago, nearly 80 percent of the visitors to Baby's First Test are
new to the site. This is to be expected as everyday thousands of babies
are born and screened and parents must learn all they can about their
new baby. Baby's First Test averages more than 15,000 visits per month.
This grows steadily as we get the word out.
Key components of the online Clearinghouse include:
Comprehensive and specific information on the variety of
conditions screened in all 50 States, Washington DC, Puerto Rico, the
U.S. Virgin Islands, and Guam. The vast majority of parents and
providers find this offering indispensable.
Guidance on what this experience will involve: when does
it take place (most parents don't know) how parents will receive
results, what to do if there is an abnormal result, and how to obtain
additional testing.
Detailed information on all conditions screened including
condition descriptions, immediate followup steps, treatments, expected
outcomes, and support services/organizations.
Information for health professionals including links to
diagnostic protocols, trainings and tool kits for nurses, and
communication guides on how to speak with families about newborn
screening.
Information on living with a condition found through
newborn screening including sections that shows stories of children
identified through newborn screening and the healthy lives they lead.
Majority of the requests we get from parents have to do with
obtaining results of their child's newborn screening, how to receive
additional testing, and how can they share the story of their child
being saved by this screening program.
The Clearinghouse also invests in local and national programs to
support newborn screening through its annual Challenge Awards. These
awards support sustainable newborn screening educational efforts
throughout the country including but not limited to:
Developing nurse education and public awareness campaigns
(Iowa).
Incorporating newborn screening education into a home
visiting program (Virginia).
Evaluating the experiences of nurse-midwives to better
understand their barriers and improve their skill level (Michigan).
Designing outreach programs to raise awareness on newborn
screening amongst WIC program participants (Illinois).
Creating parent and provider videos on screening for
Critical Congenital Heart Disease, which have been used throughout the
country as States implement this new screening policy.
Due to Genetic Alliance's 27-year history of bringing individuals,
families, and communities into the dialog about health, it is important
to us that we provide an on-ramp for families who want to become more
involved in their communities. We provide training for parents
interested in learning more about and making an impact in newborn
screening. The Consumer Task Force on Newborn Screening was created to
engage relevant stakeholders with an interest in newborn screening
policies, activities, and current events. Members are chosen through a
competitive application process to participate in a 1-year program. The
three components of this program are training, project development, and
project execution. We train members of the Task Force on issues
relevant to newborn screening and implement projects targeting groups
who typically are under-informed about the importance of newborn
screening. After serving on the Task Force, members are equipped with
the skills and knowledge to continue work on newborn screening programs
or other maternal and child health-related issues.
Through this program, members of the Consumer Task Force have been
able to:
Present comments to the Secretary's Advisory Committee on
Heritable Disorder in Newborns and Children.
Share their experiences at national and international
conferences.
Expand their project management skill set.
Join their State newborn screening advisory committees.
While the Clearinghouse has made great strides since its launch, we
are eager to do more. Baby's First Test will undertake these additional
projects this year:
Develop a Spanish-language version of the Baby's First
Test site that not only provides a translation of all 100,000 pages of
newborn screening information but also addresses specific issues and
concerns of the Latino community in a culturally competent fashion.
Conduct a followup national survey on attitudes and
perspectives on newborn screening to evaluate newborn screening
awareness initiatives and to track the needs of parents.
cost savings of newborn screening
Newborn screening not only saves lives but it also saves money.
Information available through the Association of Public Health
Laboratories indicate that the cost of treating severe combined
immunodeficiency (SCID) also know as ``bubble boy'' disease can reach
over $2 million. This fatal disease can be cured if a baby is
identified early and given a bone marrow transplant. If this transplant
is done within the first 3.5 months of life it typically costs around
$100,000. Another example of cost savings is in congenital
hypothyroidism, one of the most common conditions detected by newborn
screening. It is estimated that nearly $400 million per year is saved
by identifying babies early and providing them treatment, preventing
devastating IQ loss.
The Newborn Screening Saves Lives Act has been instrumental in
educating parents and providing support for newborn screening, both
through the Clearinghouse and through other programs. However, there is
still much to be accomplished. Even though this year we celebrate 50
years of newborn screening, a program that the Centers for Disease
Control and Prevention named one of the great public health
achievements in the Nation, we know that most expecting or new parents
do not know what newborn screening is, or what their States do or do
not screen for. This needs to change. As the data shows, newborn
screening is a first step for a healthy start for our Nation's youngest
citizens. The parents mentioned earlier are grateful for your support.
Thank you for this opportunity to speak to the subcommittee. I hope
my testimony has been informative and thought provoking and I look
forward to answering questions.
Senator Hagan. Thank you very much for your testimony.
Our next witness is Dr. Rodney Howell, currently a
Professor of Pediatrics at the University of Miami School of
Medicine, but also one of the leading researchers and advocates
in the history of newborn screening. Dr. Howell, we are
certainly honored to have you with us today.
STATEMENT OF R. RODNEY HOWELL, M.D., PROFESSOR OF
PEDIATRICS, UNIVERSITY OF MIAMI SCHOOL OF MEDICINE, MIAMI, FL
Dr. Howell. Thank you very much, Madam Chairman Hagan,
Ranking Member Enzi, and members of this committee.
Thank you very much for inviting me here today to talk to
this important committee.
I have had the opportunity to see, firsthand for nearly 50
years, the remarkable accomplishments of the newborn screening
program in the United States. The current panel of conditions
implemented by the States will, this year, identify 5,000
children with hearing loss, 2,100 with hypothyroidism, 1,775
children with sickle cell disease, 1,250 children with cystic
fibrosis, and additional serious conditions for a total of
12,500 children whose lives will either be profoundly altered
or saved due to newborn screening.
As a physician and a geneticist, I am very encouraged by
the therapeutic pipelines in development that represent great
promise of new science and hold potential that we may help many
more families and children.
Two examples of how advances in sciences will impact
newborn screening in the coming years involve Duchenne muscular
dystrophy and spinal muscular atrophy. Both of these
devastating conditions have drug therapies currently under
development, which will likely be of great benefit, but they
will require to be administered very soon after birth.
Therefore, this will require the availability of newborn
screening for these conditions.
The NIH Hunter Kelly component of the Newborn Screening
Saves Lives Reauthorization of 2013 is really essential. It is
a very important part of the legislation that will support the
research needed to develop new therapy for conditions for which
we currently lack treatment, and there are a considerable
number of those.
Now that we have treatments for conditions that can be
diagnosed and treated as a result of newborn screening, we will
also need to have continuing support for large pilot programs
for the study of the long-term outcomes of children and infants
diagnosed as a result of newborn screening.
Newborn screening also has a potential of actually saving
money in our challenged healthcare system. SCID, or Severe
Combined Immunodeficiency as it is officially known, is a
condition where infants are born lacking an immune system. If a
baby with SCID is not diagnosed at birth, the outcome is death
in infancy, but usually only after weeks or months in a
hospital intensive care unit battling life threatening
infections.
In addition to the enormous emotional burdens to the
family, there are medical bills that routinely exceed hundreds
of thousands of dollars. On the other hand, if a baby with SCID
undergoes newborn screening as we currently recommend, and is
identified at birth at a cost of well under $20, the baby can
receive lifesaving umbilical transplant in the outpatient
clinic over a period of days, and that transplant will cost
under $50,000.
I am extremely proud of the committee's work and their
thoroughness, and believe that Senate bill 1417 builds on the
accomplishments of the newborn screening program; will allow
the committee to continue to deliver the latest evidence-based
diagnoses and treatments for now and in the future; and holds
tremendous promise for genetically based therapies that will
benefit our Nation's children and families.
I greatly appreciate the support of each member of this
committee for your continuing interest and support in this
important legislation.
Thank you very much.
[The prepared statement of Dr. Howell follows:]
Prepared Statement of R. Rodney Howell, M.D.
Chairwoman Hagan, Senator Enzi and members of this subcommittee
thank you very much for inviting me to testify today on Newborn
Screening Saves Lives: The Past, Present and Future of the Newborn
Screening System. I am a pediatrician who specializes in genetic
disorders that produce serious biochemical abnormalities in children
and was beginning my career at Johns Hopkins when newborn screening was
beginning in Maryland in the 1960s. I have had the opportunity to see
first-hand for over nearly 50 years the remarkable accomplishments of
our newborn screening programs in the United States.
Children with an inherited condition known as phenylketonuria, or
PKU, if untreated have profound developmental delay with an average IQ
of less than 20. This means that such untreated children, who have a
normal life-span, are unable to speak or care for even simple needs,
and require full-time care. They are robbed of many of life's
opportunities. Over 50 years ago, it was shown that babies with PKU
identified at birth and treated with a very special diet could grow
into adults with normal abilities. Dr. Robert Guthrie at the State
University of New York in Buffalo solved a key problem, and developed a
reliable, inexpensive test that could be done on all babies born in
this country. This led to the beginning of newborn screening, which is
carried out in every State under the leadership of the individual State
health departments.
The use of the Guthrie test, or the PKU test, fairly quickly spread
throughout the United States. And this week, we are celebrating the
50th anniversary of our Newborn Screening program. Since the beginning,
newborn screening has been carried out under the aegis of the State
Health Departments and has always been among the most successful
preventive health programs in this country. And today, we have
thousands of adults, treated for PKU from infancy functioning well in
all the walks of life.
Since the benefit of the early diagnosis and treatment of PKU was
so very dramatic, individual States, which are responsible for newborn
screening, began to add tests for other conditions, using the same
blood sample, to their newborn screening programs. Such conditions as
congenital hypothyroidism were among the more common additions since
early diagnosis and treatment of this condition also can prevent
substantial developmental delay. But since each State has its own
advisory panels, there developed considerable variation among the
States. This variation was not only in the specific conditions being
tested, but also the numbers of conditions included in the screening
panel. In other words, whether your child would be identified to have a
serious medical condition and receive the necessary life-saving medical
intervention simply depended on the State in which your baby was born.
This became a big problem for at-risk families who moved to another
State between pregnancies. It was a lottery that the public health
system never intended and consistency between the States needed to be
established.
Early efforts at harmonization of screening panels between States
began when the Maternal and Child Health Bureau/HRSA charged the
American College of Medical Genetics to evaluate the scientific and
medical information related to screening for specific conditions, and
to make recommendations based on this evidence. They convened an expert
group which produced a report which recommended a uniform screening
panel and system.
Then Title XXVI of the Children's Health Act of 2000 enacted
sections of the Public Health Service Act which established the
Advisory Committee on Heritable Disorders in Newborns and Children
(Committee), which held its first meeting in 2004.
The Advisory Committee on Heritable Disorders in Newborns and
Children was established to provide advice to the Secretary of Health
and Human Services on newborn screening. It was my privilege to serve
as the founding chairman of this committee and continue in this role
for the committee's first 8 years. When the committee first began its
work, there was extraordinary variation among the States in screening
programs. In the year 2000, 35 percent of the States were testing for
fewer than 5 conditions, and 65 percent were testing for 5-10
conditions--none were testing above this number. Early in its work, the
committee after careful review and study accepted the report of the
American College of Medical Genetics and recommended that the more than
4,000,000 babies born each year in the United States be tested for 29
specific disorders including certain metabolic, and hearing
deficiencies in early 2005.
It has been most gratifying to see how the various States have
responded to recommendations from the Advisory Committee. Although
States are responsible for their own screening programs, and virtually
every State has an advisory committee that oversees decisions for that
individual State, it is extremely difficult (even for large States) to
have the extensive expertise required in the evaluation of these
individually rare inherited conditions. The Advisory Committee
membership contains or has access to all the required expertise. The
legislation under which the Advisory Committee works also requires that
all recommendations for inclusion in the newborn screening panel be
evidence-based. As the committee has made recommendations, the States
have been extremely responsive in reviewing these recommendations in
light of their own needs, and in virtually every situation has adopted
the recommendations of the Advisory Committee.
The committee has established a program for the recommendation of
other conditions to be added to the recommended uniform screening
panel, or the RUSP. It is felt that any individual, group, or
organization should be able to submit a nomination to the committee for
a condition to be added to the recommended RUSP. In order to accomplish
this the committee (http://www.hrsa.gov/advisorycommittees/
mchbadvisory/heritabledisorders) has developed a form outlining the
exact information needed and directions for presenting such a
nomination. To date, 10 completed nominations for new conditions to be
considered for addition have been submitted to the committee. After
careful review by the committee, and evidence review that would be
necessary for consideration for newborn screening, three additional
conditions have been recommended by the committee for addition to the
RUSP. The Secretary of HHS has approved two of these (severe combined
immune deficiency and critical congenital heart disease) and is
currently considering the recommendation of the third, Pompe Disease.
It is important to emphasize that the conditions that are included
on the newborn screening panel all result in serious medical
complications (e.g., developmental delay) and/or death if not
recognized early. All children with these conditions benefit from early
diagnosis and treatment.
Since the passage of Public Law 110-204 in 2008 (Newborn Screening
Saves Lives Act of 2008) there has been great harmonization among the
States, and at the end of 2010, 100 percent of U.S. births were
screened for over 30 conditions. And as a result of these expanded
screening programs lives have clearly been saved.
The current implementation by the States of the core panel of
conditions (not including severe combined immune deficiency and
critical congenital heart disease both of which are in the process of
being implemented across the country) will identify 5,064 children with
hearing loss, 2,156 with primary congenital hypothyroidism, 1,775
children with sickle cell disease, 1,248 children with cystic fibrosis,
and 239 children with medium-chain acyl-CoA dehydrogenase deficiency,
and other important conditions for a total of 12,500 children yearly
whose lives will be either profoundly altered or saved due to newborn
screening.
The Secretary's Advisory Committee has worked tirelessly to meet
the Nation's public health needs and the needs of our children. I am
particularly proud of the rigor that it has applied to the evidence
review of conditions that have been nominated for consideration to the
committee. As a physician and a geneticist, I am equally encouraged by
the therapeutic pipelines in development that represent great promise
of new science and hold potential that we may help many more families
and children. Certain of the mucopolysaccharide storage diseases are
well-positioned, with new approved therapies, to be considered for
addition to the newborn screening panels.
There are many new opportunities on the horizon but two come to
mind. Two examples of how advances in science will impact newborn
screening in coming years are Duchenne Muscular Dystrophy and spinal
muscular atrophy. Both of these disorders result in profound and
devastating health consequences for the affected children. In both
these conditions, drug therapies are currently under development which
will likely be of the greatest benefit if administered,
presymptomatically, which will be very soon after birth. The
availability of newborn screening programs for these disorders will be
essential to benefit maximally from any new treatments.
The NIH Hunter Kelly component of the Newborn Screening Saves Lives
Reauthorization of 2013 is an essential part of the legislation that
will support research needed to develop new therapies for conditions
for which we currently lack treatment. Some of our vexing conditions in
the newborn, which we could readily detect through newborn screening,
currently lack safe and effective treatment.
Now that we have treatments for conditions that can be diagnosed
and treated as a result of newborn screening, we need additional
support for the study of the long-term outcomes of infants treated as a
result of newborn screening.
As other conditions are recommended for addition to the RUSP, we
will need to identify funding and partners for large pilot research
projects prior to the implementation of a program throughout the
country. Prior to the full implementation of the newborn screening for
severe combined immune deficiency, a large pilot study was carried out
that was a great example of cooperation between the public sector
organizations, and a not-for-profit Foundation.
Public information about newborn screening has been recognized for
a long time as not only important but lacking. Some public concern
about the use of residual blood samples has in my opinion been linked
to a lack of understanding about the program itself. The HRSA Clearing
House for Newborn Screening Information and the National Newborn
Screening and Genetic Resource Center will go a long way to address
these needs.
The CDC Newborn Screening Quality Assurance Program is known
throughout the world for its excellent work. This program has been, and
remains, vital to the entire newborn screening program. As I travel the
United States as well as Europe, Asia and the Middle East to meet with
local leaders dealing with newborn screening, this distinguished
program is routinely identified as vital. And this group's provision of
quality assurance materials is essential to the development of new
tests, and the assurance that our testing procedures are working well.
It is critical to the health of our infants that the Nation's
newborn screening programs be reauthorized with the passage of the
Newborn Screening Saves Lives Reauthorization Act of 2013.
In consideration of the life-altering potential advances on the
near horizon for so many of our Nation's children, I want to call
particular attention to the new ``Priority Review'' section of the
legislation which serves to strengthen the Federal newborn screening
program. In our current newborn screening programs, we are regularly
concerned with delays of days during which an affected infant, if not
identified, can die or be damaged. And in considering new treatments,
if there is a beneficial treatment to be considered, delays mean lost
lives.
Under the reauthorization, there will be consistent and predictable
time periods allowed completing the evidence review process. It will be
most important that we work to ensure that sufficient funds are
available for these costly and intense evidence reviews required by the
committee. I believe that the impact of these timelines will encourage
nominees to develop and submit more complete nomination packages and
will provide the review committee an appropriate period of time to
thoroughly and completely review the nomination to determine whether
the condition meets all of the critical scientific standards necessary
to warrant addition to the RUSP. It will require a lot of hard work,
and of course we cannot afford any shortcuts since babies lives are at
stake.
Equally important, this legislation will encourage the committee to
more closely align its activities with the development of new and
emerging interventions to narrow the gap between the approval of new
treatments and the ability to identify the babies who could be saved if
identified through newborn screening--again without undermining or
diminishing the role of science in the committee process.
The individuals who serve on the Secretary's Advisory Committee do
an incredible job of balancing limited public health resources with the
goal of identifying babies who could benefit from newborn screening.
Not only does newborn screening save lives, the program actually
represents overall cost savings to the American healthcare system
especially important at this time of extraordinary restricted funds.
Medical interventions following newborn screening can prevent or
ameliorate severe, childhood-onset diseases and reduce the financial
burden of intensive care hospitalizations.
SCID (severe combined immune deficiency) where infants are born
lacking an immune system provides a very clear case study demonstrating
the importance of newborn screening. If a baby with SCID is not
diagnosed at birth, the outcome is death in infancy but only after
weeks or months in a hospital intensive care unit battling life-
threatening infections. In addition to the enormous emotional burdens
to families as well as lost time at work for parents there are medical
bills that routinely exceed hundreds of thousands of dollars.
Unfortunately, in the end it is common that a baby with SCID doesn't
survive this long hospital ordeal, so the devastating loss of a child
is added to the family's burden. On the other hand, if a baby with SCID
undergoes newborn screening and is identified at birth at a cost of no
more than $20, the baby can receive a life-saving umbilical blood
transplant in the outpatient clinic over a period of days at a total
cost of around $50,000.
We are at a unique point in history. The mapping of the Human
Genome is now complete. Genetics has moved out of the laboratory and
into the clinic, where its applications can save lives every day. The
current progress in the development pipeline of genetically targeted
therapies is tremendous.
I am very proud of the committee's work and thoroughness and
believe that S. 1417 builds on the accomplishments of the newborn
screening program and will allow the committee to continue to deliver
the latest evidence-based diagnoses and treatments for now and in the
future which holds tremendous promise for genetically based therapies
that will benefit our Nation's children and their families.
Senator Hagan. Thank you, Dr. Howell. And certainly, as a
mom, thank you for all the research you have done on pediatrics
for so many years, and for the difference this has made in the
lives of so many children nationwide.
Our next witness is Dr. Jennifer Howse, president of the
March of Dimes which, as an organization, has been involved in
the development and spread of newborn screening for more than
50 years.
Dr. Howse, thank you on behalf of all the work you do for
the March of Dimes, and for being here today.
STATEMENT OF JENNIFER L. HOWSE, Ph.D., PRESIDENT,
MARCH OF DIMES, WASHINGTON, DC
Ms. Howse. Thank you very much and good morning, Madam
Chair and Ranking Member Enzi.
I want to begin just by commending both of you for
representing States that are currently offering 30 out of the
31 recommended conditions with a great deal of attention on the
remaining test; so just commendations to both of you.
As president of the March of Dimes, I have the privilege of
representing a very unique partnership of scientists,
clinicians, parents, and volunteers who work together to
prevent birth defects, pre-term birth, and infant mortality. So
I very much appreciate the opportunity to testify before you
today on newborn screening, which is truly one of the great
public health victories of the early 21st Century.
Newborn screening is critically important. It is a highly
effective public health program that tests every newborn for
certain genetic, metabolic, hormonal, and functional conditions
that are not otherwise apparent at their birth. Approximately 1
in every 300 newborns has a condition that can be detected
through screening.
Newborn screening detects conditions that, if left
untreated, can cause disability, developmental delay, prolonged
illness, or even death. But if diagnosed early through
screening, these disorders can be managed successfully, thus
reducing not only the physical burden of the disease, but also
the associated economic burden on families, communities, and
our Nation.
This year, we celebrate the 50th anniversary of newborn
screening. The March of Dimes is very proud of our decade-long
involvement in the history, and funding, and research that has
helped to lead to contributions for the development of new
screening tests.
The progress of newborn screening over the past two decades
did persuade the Congress to pass the Newborn Screening Saves
Lives Act in 2008. The law renewed and updated various programs
that underpin the States' newborn screening efforts and the
Federal Secretary's Advisory Committee on Heritable disorders.
The law is now due for its regular 5-year renewal. Passage of
the Newborn Screening Saves Lives Reauthorization Act is
essential to the continued success of the newborn screening
programs across our Nation.
Very importantly, reauthorization will ensure the
uninterrupted continuation of the Secretary's Advisory
Committee on Heritable Disorders and its vital work to maintain
and update the recommended uniform screening panel that States
use to consider, to adopt, and to implement new conditions. And
so, that committee provides also ongoing planned evidence
reviews and its work should be able to be continued
uninterrupted.
The Newborn Screening Saves Lives Reauthorization Act also
extends very, very important programs at HRSA, CDC, and NIH
which include seven genetic and newborn screening regional
collaborative groups, and a national coordinating center to
support States' capacity. The Critical Congenital Heart Disease
Newborn Screening Demonstration Program, which is improving
protocols for point of care screening; Baby's First Test, which
you have already heard about, a wonderful national education
resource for parents; the Newborn Screening Technical
Assistance and Evaluation Program, which serve to help States
evaluate the effectiveness of their screening programs; a
quality assurance program, which continues to upgrade the
accuracy of newborn screening tests; and the very important
Hunter Kelly Research Program at NIH, which supports grants and
contracts to improve technology related to newborn screening.
Today, 42 States and the District of Columbia require
screening for at least 29 of the recommended 31 conditions.
Millions of babies have been screened for dozens of disorders,
and in thousands of cases, the health and well-being of these
children has been preserved. Newborn screening also represents
a model, we believe, of Federal, State, public health
partnership that has produced extraordinary improvements in
child health.
So we urge you not to let this vital public health program
falter. On behalf of 3 million March of Dimes volunteers and
countless other organizations and families, we urge you and we
urge the Senators to cosponsor, and to support the Newborn
Screening Saves Lives Reauthorization Act. We quite
respectfully request that you report this bill out of
committee.
We look forward to working closely on this bill with you,
with chamber leadership to ensure that it can be passed as soon
as possible by both the Senate and the House.
We thank you so much for your considered attention to this
vital health issue, and we stand ready to assist you in
ensuring efforts for newborn screening programs to continue so
that they may protect the health and well-being of newborns for
many years to come.
Thank you very much.
[The prepared statement of Ms. Howse follows:]
Prepared Statement of Jennifer L. Howse, Ph.D.
Good morning Chairwoman Hagan, Ranking Member Enzi, and members of
the Subcommittee on Children and Families. My name is Dr. Jennifer
Howse, and I'm proud to serve as president of the March of Dimes
Foundation, a unique partnership of scientists, clinicians, parents,
members of the business community and other volunteers affiliated with
52 chapters and over 200 divisions in every State, the District of
Columbia and Puerto Rico. I appreciate this opportunity to testify
today on newborn screening, one of the great public health victories of
the 20th century, and one which continues to save infants' lives every
day.
The March of Dimes is a national voluntary health agency founded in
1938 by President Franklin D. Roosevelt to support research and
services related to polio. Today, the Foundation works to improve the
health of women, infants and children by preventing birth defects,
premature birth and infant mortality through research, community
services, education and advocacy. In 1998, the March of Dimes
established its Global Programs division to extend its mission overseas
through partnerships with countries to deliver interventions directed
at reducing birth defects and pre-term birth.
background
Newborn screening is a critically important and highly effective
public health program for testing every newborn for certain genetic,
metabolic, hormonal and functional conditions not otherwise apparent at
birth. Approximately 1 in every 300 newborns has a condition that can
be detected through screening. Newborn screening detects conditions
that, if left untreated, can cause disabilities, developmental delays,
illnesses or even death. If diagnosed early, many of these disorders
can be managed successfully, which not only reduces the physical burden
of disease but can also help to reduce the associated economic burden
on families, communities, and government.
Since the mid-1960s, the success of newborn screening programs has
led to routine testing for the over 4 million infants born in the
United States each year. The Centers for Disease Control and Prevention
(CDC) estimates that each year over 6,000 newborns are diagnosed as
having a treatable metabolic condition and another 12,000 are found to
have hearing impairment that requires followup. The majority of newborn
screen tests are performed using a single sample of a few drops of
blood from the newborn's heel, usually taken in the hospital 24 to 48
hours after birth. Hearing screening and screening for critical
congenital heart disease (CCHD) are performed with non-invasive
devices; hearing screening utilizes a handheld device held near the
infant's ear, while pulse oximetry is used to test for CCHD by way of a
small probe that clips onto a newborn's hand or foot.
history of newborn screening
This year, our Nation is celebrating the 50th anniversary of
newborn screening; however, the program's origins reach back much
earlier. In 1959, after the March of Dimes had led our Nation to the
successful development of the Salk and Sabin polio vaccines and
refocused our mission on birth defects prevention, we initiated
discussions about newborn screening on a large scale as a means to
detect and prevent the catastrophic consequences of metabolic
conditions such as phenylketonuria (PKU). This led to a grant to Dr.
Robert Guthrie to support his development of a simple and effective
population-based screening test for PKU. Dr. Guthrie's work
demonstrated conclusively that identifying infants with PKU and
immediately beginning a low-protein diet could completely avert the
otherwise devastating developmental disabilities PKU causes. These
results were so dramatic that the State of Massachusetts mandated PKU
screening for all infants in 1968, beginning the modern era of newborn
screening.
Subsequently, the March of Dimes funded research into tests for
other genetic and metabolic diseases in newborns as we promoted newborn
screening as a central component of newborn medical care. The
Foundation is deeply proud of our decades-long history of funding
research that has led or contributed to the development of numerous
newborn screening tests, including those for congenital adrenal
hyperplasia, biotinidase deficiency, and others. Together, these tests
have allowed us to preserve the health and well-being of thousands of
children.
As more tests became available, however, a patchwork developed in
which some States screened for numerous disorders and others very few.
In 2000, the March of Dimes led the way in proposing a national
standard for newborn screening which included a core list of 9
disorders, with provisions for expanding the list as science and
technology evolved. At the same time, the March of Dimes and others in
the policy community began working with Congress to bring new attention
and focus to this rapidly developing field. We worked to identify
policy changes that would allow the Federal Government to assist States
in evaluating new tests and determining whether to include them in
their screening panels. The landmark Children's Health Act of 2000
(P.L. 106-310) included two vital provisions that advanced newborn
screening policies. The law created the Secretary's Advisory Committee
on Heritable Disorders in Newborns and Children to provide expert
evaluations of new tests and consideration of challenges in the field.
It also established Federal grants to enhance and evaluate State
newborn screening programs, allowing them to develop and implement best
practices.&
In August 2004, the American College of Medical Genetics (ACMG)
submitted a report requested by the Health Resources and Services
Administration (HRSA) setting out proposed nationwide standards for
State newborn screening programs. The report listed 29 core treatable
disorders that should be targeted directly and an additional 25
secondary conditions for which test results should be reported. These
secondary disorders were not directly targeted by newborn screening
because they did not yet have documented treatments or because there
was limited knowledge of their natural history. Their presence would be
revealed, however, in the course of screening for the core conditions.
The ACMG recommendation to screen all newborns for 29 core conditions
was endorsed by the Secretary's Advisory Committee on Heritable
Disorders in Newborns and Children as well as the March of Dimes in
2005.
The Federal Recommended Uniform Screening Panel (RUSP) gave
advocates a powerful tool to press State legislatures to adopt this
consistent set of tests. The March of Dimes led a grassroots advocacy
campaign to secure adoption of the recommended uniform panel in every
State, issuing annual report cards to document progress. And it was
spectacularly effective: in 2004, only 21 States screened for at least
nine of the recommended conditions, but just 4 years later all but two
States were screening for at least 21.
Since 2010, the Advisory Committee, with the Secretary's approval,
has added two new conditions to the Recommended Uniform Screening
Panel: severe combined immunodeficiency (SCID) and critical congenital
heart disease (CCHD). A third condition, Pompe Disease, is currently
awaiting a decision by the Secretary. This year alone, the March of
Dimes and allies like the American Heart Association have advocated
successfully for 24 States to add CCHD to their newborn screening
panels. This system of review and recommendations by the expert
Advisory Committee, approval and dissemination by the HHS Secretary,
and adoption by the States continues to work effectively to ensure that
tests are evaluated appropriately and then adopted in a timely fashion
to protect the health of our Nation's infants.
the newborn screening saves lives act
The remarkable progress of newborn screening over the past two
decades persuaded Congress to pass the Newborn Screening Saves Lives
Act in 2008. The law renewed and updated various programs that underpin
States' newborn screening efforts as well as the Secretary's Advisory
Committee. Most notably, it codified the authority of the Secretary of
Health and Human Services to establish the Recommended Uniform
Screening Panel and to accept or reject the Advisory Committee's
recommendations to add conditions to the RUSP. The law is now due for
its regular 5-year renewal.
The March of Dimes is deeply grateful to Subcommittee Chairwoman
Kay Hagan and Senator Orrin Hatch and Representatives Lucille Roybal-
Allard and Mike Simpson for introducing S. 1417 and H.R. 1281, the
Newborn Screening Saves Lives Reauthorization Act. Reauthorization is
critical to ensuring we continue to provide the most accurate and
comprehensive screening available to our Nation's children.
Passage of the Newborn Screening Saves Lives Reauthorization Act is
essential to the continued success of newborn screening programs across
our Nation. Most importantly, reauthorization will ensure the
uninterrupted continuation of the Secretary's Advisory Committee on
Heritable Disorders and its work. The Advisory Committee's charter
expired in April of this year, and it was only through the timely
action of Health and Human Services Secretary Kathleen Sebelius that it
was extended on a discretionary basis for up to an additional 2 years.
Maintaining and updating the Recommended Uniform Screening Panel that
States use to adopt and implement new conditions is vital, and ongoing
and planned evidence reviews should not be delayed.
The Newborn Screening Saves Lives Reauthorization Act also extends
important grant programs at the Health Resources and Services
Administration, Centers for Disease Control and Prevention and National
Institutes of Health, including:
Seven Genetics and Newborn Screening Regional
Collaborative Groups (RCs) and a National Coordinating Center (NCC)
funded by HRSA, which strengthen and support the genetics and newborn
screening capacity of States using a regional approach to addressing
mal-distribution of genetic services and resources. Special emphasis is
given to underserved populations and those families and providers in
rural areas. The RCs include all States, U.S. Territories and the
District of Columbia.
The Critical Congenital Heart Disease (CCHD) Newborn
Screening Demonstration Program, a 3-year HRSA grant designed to
support the development, dissemination and validation of screening
protocols and newborn screening infrastructure for point of care
screening specific to CCHD. CCHD presents special challenges to
implementation since it is not tested with the blood spot.
Baby's First Test, a national educational resource center
for newborn screening presently operated by Genetic Alliance under a
HRSA grant. Baby's First Test informs and empowers families and
healthcare providers throughout the newborn screening experience.
The Newborn Screening Technical Assistance and Evaluation
Program (NewSTEPs) funded by HRSA, which serves as a technical
assistance program for State newborn screening systems.
Newborn Screening Quality Assurance Program (NSQAP), a
comprehensive CDC program devoted to ensuring the accuracy of newborn
screening. NSQAP is the only comprehensive program in the world devoted
to ensuring the accuracy of newborn tests. In 2012, the program
guaranteed the quality of newborn testing in more than 550 laboratories
worldwide, and assured identification of between 5,000 and 6,000
infants with treatable diseases who might have otherwise died or become
severely disabled.
The Hunter Kelly Research Program, which supports numerous
grants and contracts to develop and improve technologies related to
newborn screening. Through the Hunter Kelly Newborn Screening Research
Program, the Eunice Kennedy Shriver National Institute of Child Health
and Human Development also funds the Newborn Screening Translational
Research Network, a resource for investigators engaged in newborn
screening-related research.
conclusion
Today, 42 States and the District of Columbia require screening of
at least 29 of the 31 treatable core conditions. Millions of babies
have been screened for dozens of disorders, and in thousands of cases,
the health and well-being of those children has been preserved. Newborn
screening represents a model Federal-State public health partnership
that has produced extraordinary improvements in child health.
We must not allow this vital public health effort to falter. Our
most immediate challenge is to preserve and renew the Newborn Screening
Saves Lives Act. On behalf of over 3 million March of Dimes volunteers
and countless other organizations and families, I urge Senators to
cosponsor and support S. 1417 and the committee to report the
legislation. We look forward to working closely with the committee and
chamber leadership to ensure it can be passed as soon as possible in
both the Senate and the House. Furthermore, although beyond the
jurisdiction of this committee, I urge Congress and the Administration
to agree on a balanced approach to deficit reduction that protects
investments in programs such as newborn screening. Authorization bills
are only effective insofar as funding is appropriated to implement
their provisions.
Newborn screening has improved and saved the lives of countless
thousands of affected children. Thank you for your attention to this
vitally important child health issue. The March of Dimes stands ready
to assist you in ensuring that newborn screening programs will continue
to preserve the health and well-being of newborns for many years to
come.
Senator Hagan. Thank you, Dr. Howse, and thank you to the
March of Dimes, to your staff and to your many, many volunteers
all across the country for the work that they do.
And now, we have our last witness, Mrs. Joye Mullis, of
Raleigh, NC. I certainly want to welcome her husband Jeremy and
her son Ethan to the hearing today. Mrs. Mullis has some
personal experiences with newborn screening that, I hope, will
remind all of us here today why this is so important.
Mrs. Mullis.
STATEMENT OF JOYE MULLIS, RALEIGH, NC
Mrs. Mullis. Good morning, Madam Chairman Hagan, Ranking
Member Enzi.
Thank you for the opportunity to share our story with you
today.
As with all children, my son's story began well before his
birth. I believe that every heart has a story and this is his.
My husband and I learned that we were expecting our first
child on a hot July morning in 2008. Our joy and celebration
were tempered quickly by some early complications. However, we
were overjoyed to see our baby's strong heartbeat on the screen
in front of us during our first ultrasound.
From that point forward, my husband and I weathered the ups
and downs of a complex pregnancy with optimism and hope. In
all, I had five ultrasounds, and ultimately we learned that our
baby would be born with two noncritical birth defects that
would require surgical intervention. Our physician assured us,
however, that his heart was strong and his prognosis was good.
On March 8, 2009 our precious baby boy Ethan was born. My
husband and I spent the first 8 hours of his life with him,
surrounded by friends and family. We prayed that he would be
OK, but we had no idea that in just a short time, new
challenges would be coming our way.
As the postpartum nurse was bringing Ethan back to our room
after his newborn screening, she noticed that, in her words,
``He just did not look right.'' She immediately wheeled him
back into the nursery and hooked him up to a pulse oximeter.
Through that noninvasive screening, she discovered that Ethan's
oxygen saturation level, which should have been at least 95
percent, was in the mid-60's. I will never forget hearing the
words, ``We have reason to believe there is something wrong
with your baby's heart.''
Ethan was diagnosed with pulmonary atresia with a
ventricular septal defect. While a pediatric cardiologist
explained in great detail what that meant, the bottom line was
that our son would need to be rushed to Duke University Medical
Center in Durham for open heart surgery. It was not until he
was 9 weeks old that Jeremy and I walked out of Duke as a
family of three and into our home with our son.
Four years later, Ethan's health is now stable. He has
endured 14 surgeries and procedures, and he has survived full
cardiac and pulmonary arrest. Despite his rocky start, we now
have a boy on our hands who loves bugs, and cars, and playing
with his preschool friends. We know that there will be more
surgeries ahead, but we cherish the time that we have together
with him now.
Every heart has a story. The story of Ethan's is one of
strength and resilience. While pulse oximetry screening cannot
take away the heartache of surgeries and complications, it can
be the start of a lifetime of success for a baby born with a
congenital heart defect.
It has taken a lot of work to get Ethan to where he is
today, and it all began with an observant nurse. However,
babies should not have to rely on a doctor's or a nurse's
intuition to diagnose potentially fatal conditions.
Ethan's story exemplifies the importance of comprehensive
newborn screening, and the Newborn Screening Saves Lives
Reauthorization Act will help ensure that infants throughout
our Nation are screened for treatable conditions like Ethan's
at birth.
I urge all members of the committee to support this
legislation, and I sincerely hope it will be passed by the full
Senate this fall.
Thank you again for listening to our story today, and may
God bless you.
[The prepared statement of Mrs. Mullis follows:]
Prepared Statement of Joye Mullis
Good morning Madam Chairman Hagan, Ranking Member Enzi and
distinguished members of the subcommittee.
Thank you for the opportunity to share my story with you today.
As with all children, my son's story began well before his birth. I
believe that every heart has a story and this is his.
My husband and I learned that we were expecting our first child on
a hot July morning in 2008.
Our joy and celebration was tempered quickly by some early
complications; however, we were overjoyed to see our baby's strong
heartbeat on the screen in front of us during our first ultrasound.
From that point forward, my husband and I weathered the ups and
downs of a complex pregnancy with optimism and hope.
In all, I had five ultrasounds and ultimately we learned that our
baby would be born with two non-critical birth defects that would
require surgical intervention. Our physician assured us, however, that
our baby's heart was strong and the prognosis was good.
On March 8, 2009, our precious baby boy Ethan was born. My husband
and I spent the first 8 blissful hours of his life with him, surrounded
by family and friends. We prayed that he would be OK, but we had no
idea that in just a short time, new challenges would be coming our way.
As the post-partum nurse was bringing Ethan back to our room after
his newborn screening, she noticed that ``he just didn't look right''
and immediately wheeled him back into the nursery and hooked him up to
a pulse oximeter.
Through that non-invasive screening, she discovered that Ethan's
oxygen saturation level, which should have been at least 95 percent,
was in the mid-60s percentile.
I will never forget hearing the words, ``We have reason to believe
there is something wrong with your baby's heart.'' Questions raced
through my mind and fear coursed through my veins.
I asked myself, ``How could there be something wrong with his
heart? How did this go unnoticed before now?'' I was angry and very,
very scared.
Ethan was diagnosed with pulmonary atresia with a ventricular
septal defect. While a pediatric cardiologist explained in great detail
what that meant, the bottom line was that my hours old son would need
to be rushed to Duke University Medical Center for his first open-heart
surgery.
It wasn't until Ethan was 9\1/2\ weeks old that my husband and I
walked out of Duke as a family of three and into our home with our son.
Four years later, Ethan's health is now stable. He has endured 14
surgeries and procedures, and an incident in which he went into full
cardiac and pulmonary arrest taking a team of about 30 doctors and
nurses, and 11 minutes of CPR to bring him back to us.
Despite his rocky start, we now have a boy on our hands who loves
bugs, cars, and playing with his preschool friends. There may be more
surgeries ahead, and we cherish the time we have together now.
Every heart has a story. The story of Ethan's is one of strength
and resilience.
While pulse oximetry screening can't take away the heartache of
surgeries and complications, it can be the start of a lifetime of
success for a baby born with a congenital heart defect.
It has taken a lot of work to get Ethan to where he is today, and
it all began with an observant nurse.
However, babies should not have to rely on a doctor's or nurse's
intuition to diagnose potentially fatal conditions.
Ethan's story exemplifies the importance of comprehensive newborn
screening, and The Newborn Screening Saves Lives Reauthorization Act
will help ensure that infants throughout our Nation are screened for
treatable conditions--like Ethan's--at birth.
I urge all members of the committee to support this legislation and
I sincerely hope it will be passed by the full Senate this fall. &
Thank you for listening to my story today, and may God bless you.
Senator Hagan. Thank you, Mrs. Mullis, and thank you Jeremy
and Ethan for being here today, and thanks for your personal
experience of how important newborn screenings really are to
each and every family who has a child.
The hearing record will remain open for 10 business days
for the Senators to submit questions.
So we are going to go ahead and start with the questions
now, and let us just do a round of 5 minutes, and then we can
continue.
Mrs. Mullis, I wanted to ask you a question and just thank
you so much for sharing your story and Ethan's story. We are
glad to hear that he is now a happy 4-year-old, experiencing
all the things, as you said, from bugs, and cars, and trains,
and planes.
You noted earlier in your statement that your physician
detected noncritical birth defects during your pregnancy. I am
curious if, at that point or later during your pregnancy, if
your physician or any other healthcare provider, shared
information with you about newborn screening? And if not, is
that information that now, looking back, you think you and your
family would have found helpful and/or comforting?
Mrs. Mullis. Sure. The physician took us through all the
details of those two birth defects. He assured us that Ethan
would be screened at birth. At that time, pulse oximetry was
not mandated by North Carolina, so that was hospital-specific.
And so, he did not share that specific test with us, but did
inform us that he would be well checked and looked over after
his birth.
Senator Hagan. I know how important it would be, I would
think, for pregnant moms to understand newborn screening. I
think one of the questions we have is: how much of that is
actually being done in the offices?
One other question, since Ethan was born, as you said,
North Carolina has required the pulse oximetry testing for all
newborns in the State to detect these critical congenital heart
defects like the one that Ethan had. I understand that you have
been active in the community, and that you have been meeting
with other parents whose children might have a heart defect or
other condition detected from the newborn screening.
Can you share with us what mandating the CCHD screening,
and/or not letting it remain optional, has meant for other
parents in the State that you have spoken with?
Mrs. Mullis. Absolutely, and your question is very timely.
I just learned of a family in North Carolina--two families
actually--who, since the screening of their babies, have been
screened at their community hospital. Congenital heart defect
was detected right away, and the baby was able to get to a
larger hospital to receive the care that he needed.
So it is already making a difference in North Carolina, and
I am very honored to have played a small role in that.
Senator Hagan. Thank you.
Miss Bonhomme, as director of Baby's First Test, you are
regularly engaged in trying to educate parents who may not know
much about newborn screening.
What are the most common misperceptions that you encounter
from parents about the newborn screening system? And are there
education efforts targeted for specific communities that we
know have a higher incidence of conditions that would be
detected by newborn screening? For example, we know that sickle
cell anemia is obviously prevalent among African-Americans, and
that certain heart defects are more common in certain areas of
Alaska.
Can you just go over some of the kinds of questions and
educational issues that you encounter?
Ms. Bonhomme. Absolutely. One of the main questions that we
receive about newborn screening is, first, why they did not
hear about it earlier. Parents always wonder,
``Oh, why did I not hear about this when I was planning
my pregnancy, or when we were talking about all the different
screenings that were going to take place? ''
You hear about breast feeding. You hear about all these
other activities that take place in that first few days of
life, but oftentimes, parents do not hear about newborn
screening.
In terms of programs targeted toward specific communities,
there are a number of different activities, both at the State
and national level to target those different communities. One
activity that actually Baby's First Test is helping to fund is
a PSA in the Atlanta region targeted toward African-American
families about newborn screening and to make sure they know
what their status is, particularly their sickle cell status,
but also wrapping newborn screening into that.
I know that in Alaska, there have been efforts to create
some DVD's so that the local birthing centers there can show
information about newborn screening, and the particular
conditions that affect that particular population.
Senator Hagan. Thank you.
Senator Enzi.
Senator Enzi. Thank you, Madam Chairman.
And for the Mullis family, I cannot even imagine what you
have been through. My wife and I had a daughter that was born 3
months premature, and so we went through some of those daily
ritual things.
But something that is much more common is the doctor
talking to you about something as simple as a tonsillectomy and
explaining that there is no problem in 99.9 percent of the
cases. And you think, ``But what if I am the \1/10\th? It is my
kid's life.'' So thank you for sharing your story. It makes a
tremendous impact.
I would like to ask Dr. Howell about this legislation that
has been introduced by the Chairman and Senator Hatch. It has
new timelines for that Advisory Committee to be able to review
the evidence for the new conditions under a priority review
status, and has shorter deadlines for the Secretary to adopt or
reject the recommendation of the Advisory Committee.
Can you explain why these new timelines are needed and
would be helpful, and whether you think they improve the
process of evaluating the conditions nominated for screening?
Dr. Howell. Thank you, Senator Enzi.
I think that the timelines are introduced, basically, to
try to ensure that the process goes forward briskly.
Particularly, for instance, when a drug has been approved for a
condition such as a newborn screening condition, we think that
the FDA has reviewed that and has proven that it is a valuable
drug. And so, we think that the evaluation of newborn screening
should proceed quickly and perhaps a little more rapidly than
we would like.
I think in newborn screening, it is very interesting, we
are always working on a short timeline because the conditions
that we are looking at and screening for commonly are fatal
conditions. So any delay that we see that we have, we are
losing lives, and so, we really would encourage that.
I think that the timeline, I have looked at them pretty
carefully. They are aggressive; I agree with that, but I think
on the other hand, they clearly can be accomplished.
I think the one thing that will be important as the
community works on this legislation is to ensure that the
committee has adequate resources to do the evidence reviews;
the evidence reviews are expensive. And so, if we have a couple
of conditions that need rapid review, we need to be sure that
the funding is there to have the evidence reviewed. But I think
that in the bureaucratic world we live in, we want these
conditions to move rapidly, and I think the advantage of having
timelines is great.
The Secretary is always very busy, as you obviously know,
and there is a timeline. During the latter portion of my time
as chair of the committee, having the Secretary have timelines
to respond to the committee was effective; we got letters back
more quickly.
So I think they are realistic. I think that they will
require a little effort, but I think that is fine. I think it
is a good idea.
Senator Enzi. Thank you.
Dr. Howell. And let me add one other thing.
Senator Enzi. Sure.
Dr. Howell. I think the fact that you do have these
timelines, I believe it will encourage the person making
nominations to be a little more complete and a little clearer
so they know that they can go quickly rather than having a lot
of loose ends out there. It is a good thing to do.
Senator Enzi. Thank you. Does anyone else want to comment
on that?
So we will move to the science of genetics, which is one of
the more rapidly changing fields of research in the United
States. Scientists and researchers are learning more and more
about the code that makes each of us who we are. To that end,
the field of genetic medicine is also continually evolving and
innovating, and the Newborn Screening Saves Lives
Reauthorization Act does include a new priority review pathway
that we have just talked about for the Advisory Committee to
review conditions for screening where there are pending
applications for new drugs or breakthrough therapies.
You talked about it a little bit already, Dr. Howell, but
can you discuss the significance of the new pathway in terms of
medical research into treatments for these conditions? What are
some of the new things that are coming down the road that we
may not know about and how that will affect the development of
the new therapies for these conditions?
Dr. Howell. Let me elaborate just briefly on the two
conditions that I quickly passed over and so forth.
Duchenne muscular dystrophy is a condition that many people
are aware of. It affects boys. It is a devastating disease. We
have known about it for a century, and we have actually known
the genetic defect for 20 years; it is a genetic absence of a
protein. But it has been really tough to figure out how to get
that protein back, and there are all sorts of studies going on.
But there is one study going on using antisense
oligonucleotide--a very unfortunate long term--but basically
that is a compound that attaches to the DNA, and where you have
a deletion or an absence of a portion of the DNA, you have
these special compounds that basically jump over these
deletions. It is like a bridge; so you have a part of the gene
here, you have a deletion/a hole, and then you have the rest of
the gene. And so these drugs that are antisense
oligonucleotides have some very encouraging results.
We really would like to be certain of that as we move
ahead. There is a lot of conversation between the people doing
newborn screens to people working on drugs, and that is
encouraging this bill. The FDA would be working with the
committee so the drugs are coming.
If a drug indeed does show great results, and is
lifesaving, it would be very important for that newborn
screening program to be rapidly moving ahead. In other words,
you have a new drug. It is lifesaving. You do not want to sit
and think about it for a long time. You want to move quickly.
And so, I am a big advocate of that, and I think it makes
sense.
And the number, there are similar drugs for spinal muscular
atrophy that are very exciting. Again, spinal muscular atrophy
is the most common fatal neurologic disease of childhood; a
devastating disease. Again, encouraging and exciting results
are out there. And we want to be ready to take care of them
once these drugs hit the market.
Senator Enzi. Thank you for your ability to explain
something very difficult very well.
Dr. Howell. I expect you will be explaining antisense
oligonucleotides now to your colleagues.
[Laughter.]
Senator Enzi. And talking about SCID's. Thank you.
Senator Hagan. I am glad that Senator Enzi is going to be
doing that explanation.
[Laughter.]
Dr. Howell. Well, you are going to be busy talking about
SCID, right?
Senator Hagan. Senator Casey.
Statemenet of Senator Casey
Senator Casey. Thank you, Madam Chair.
I want to thank you for calling this hearing and grateful
that you and Senator Enzi are here with us today to talk about
what is such an important issue, but sometimes an issue we do
not spend enough time on.
I will have a longer statement for the record, and I will
pose a few questions here.
Dr. Howell, some of your testimony reminds me of a story,
but I want to first thank all of our witnesses, especially Mrs.
Mullis, for taking the time to be here, and to being not just
an advocate, but a personal witness to how important newborn
screening is, and how important it is to reauthorize the
legislation.
Dr. Howell, I am sorry I missed your testimony, but we are
lucky to have a copy of all of your testimonies. Dr. Howell,
when you said in the second paragraph of your testimony about
PKU and how a lot of these screening efforts started as long as
50 years ago, you said that,
``Children with an inherited condition known as PKU,
if untreated, have profound developmental delay with an
average IQ of less than 20. This means that such
untreated children, who have a normal life-span, are
unable to speak or care for even simple needs and
require full-time care. They are robbed of many of
life's opportunities.''
That was your testimony, and it just so happens that I have
a little bit of a personal connection here. My father was a
State senator in the early 1960s in Pennsylvania--I know that
now U.S. Senator Hagan was a State senator at one point in her
career--but he saw this information that was available at that
time. This would have been, for him, 1963 or 1964. He had a law
passed in the senate of Pennsylvania which at least led to a
new policy as it relates to children in Pennsylvania. Just a
very inexpensive screening at the time would save a lot of
lives.
I will put in the record his recollection of that. I will
not go into that today, but he passed away more than 13 years
ago. So I want to, as we are paying tribute to our panel and
all those who are great advocates, I want to pay tribute to him
and put a reminder in the record, which I will include in my
statement for the record.
But I wanted to ask about one of the challenges we still
have with all of the Internet access, all of the technology
that is available to folks. We know in just the last couple of
days, we have reports about folks who do not have regular
access to the Internet.
Miss Bonhomme, I wanted to ask you about if we are focused
on Baby's First Test and the work that you are doing that
relies on Internet access to disseminate information, what
steps have been taken to ensure that parents who lack reliable
Internet access, that they can also obtain this information?
Ms. Bonhomme. I thank you for that question, Senator.
While Baby's First Test has a very public, online presence,
we also do a number of locally based, community-based
activities. So we have a series of challenge awards that really
are targeted toward where there are educational gaps, and not
having Internet access or reliable Internet access is a great
gap that a number of our citizens are faced with. So we do
invest in that fashion.
So we will partner with community-based organizations to
make sure that they can disseminate information and we have had
programs who have gone and worked with their local public
library system to make sure that there is information there.
But really, we partner with communities so that they can say,
``We know that there are a lot of moms and families that go to
this particular part of town,'' for whatever reason, oftentimes
it is a library or a church. ``Let us make sure we have
materials there.'' So we really do try to address that issue of
not having a lot of Internet access.
We also work with State public health departments who
oftentimes have access to being able to provide materials in,
let us say, in the bag that goes home with the mom at the
hospital. We partner with them to create materials that will go
in there, so that there is something--either a little postcard
or a handout--that they can refer to when they go home after
the birth of their child.
Senator Casey. I appreciate that. I know my time is running
out, but let me take one more for Dr. Howell while we have a
couple of minutes.
I wanted to ask you about the fact that we have had States
taking action over time; I mentioned what happened 50 years ago
in Pennsylvania. But when States are making decisions about
these issues about screening, what factors that you can
identify, what factors might lead a State not to screen for a
particular illness that the Advisory Committee recommends
screening for?
Can you shed some light on the determinations they make or
what goes into that?
Dr. Howell. Every State has an advisory committee that
advises the State health department on newborn screening and
they basically will look at a recommendation that comes from
the committee.
One of the things that has been extremely gratifying to me
is that since the committee has been established, it has very
broad representation and a tremendous number of experts, public
members, scientists, ethicists, et cetera. When that committee
does a detailed evidence review, one of the things that has
been exciting is the States have looked at that and have
overwhelmingly adopted it, which has been very gratifying.
I might point out that adoption has not been out of the
blue. It has been helped tremendously by advocates, the March
of Dimes being a leading advocate in the State. But
fundamentally, the advocates in the States now have an absolute
criteria to go on.
Virtually all the recommendations have been adopted, but
occasionally, some recommendation will come down and the State
will decide, ``Well, this would be very difficult for us to
do,'' et cetera. But again, I think that even when they
initially decide not to do it, they do move along and do it.
I would like to comment briefly also that when the
committee has recommended the implementation of what I would
call a rather complicated new technology such as Severe
Combined Immunodeficiency, or SCID, where you are looking at a
test that is new, the committee had recommended and the NIH had
funded, a national pilot program.
So you tried it in three or four States, et cetera, and did
a lot of babies to see how it worked: what are the problems out
in the field? That has also been invaluable. If you look today
at what is happening, still States are implementing Severe
Combined Immunodeficiency and States are starting to implement
critical congenital heart disease.
In the State of Florida, for example, Florida is in the
process of implementing the cardiac screening. But again, to
get that going, they need to meet with the various people
around the State and decide exactly what is going to happen
when a baby in Pensacola needs to be followed up. And so, you
have organizational changes and so forth.
But there will always be a committee that will say, ``No,
we are not going to do this,'' and so forth, but that is rare
and it has been the exception.
When the committee was first established, and I had the
privilege of working with it, a number of colleagues,
thoughtful colleagues said,
``I do not know why you are going to waste your time
on that because you are going to sit in Washington, you
are going to make all these wonderful recommendations
with all these very bright people, and the people are
not going to pay any attention to it.''
That did not happen largely because of the advocates that
basically once the data were available, they made it happen.
Senator Casey. I want to thank the panel and the advocates
who are here with us today, and others like you, for bringing
light to a terrible darkness, and we are grateful for the time.
And Madam Chair, thanks for another 3 minutes and 30
seconds.
[The prepared statement of Senator Casey follows:]
Prepared Statement of Senator Casey
Thank you Senator Hagan for holding this hearing today.
Providing the foundation for our children to lead healthy
and productive lives is the most important thing we can do for
our children. More than 1 in 300 newborns have a condition that
is treatable through newborn screening. This means that the
newborn screening system plays a vital role in ensuring that a
multitude of diseases are caught early, when they are easier to
treat. My office has heard from constituents who have
benefited, or whose children have benefited, from newborn
screening. Children's lives have been saved and greatly
improved because medical conditions were promptly identified.
The newborn screening system in our country has developed
over the past 50 years thanks to the vision and hard work of
countless researchers, medical professionals, and patient
advocates. The Newborn Screening Saves Lives Act in 2008 was a
crucial step forward for that system. I am proud to have
cosponsored that legislation, especially in light of how
standardized newborn screening has become since its passage. A
decade ago, the newborn screening system differed significantly
from State to State. Today, as noted by one of this panel's
witnesses, 100 percent of U.S. births were screened for over 30
conditions at the end of 2010. The additional resources and
access to information provided by the Newborn Screening Act
helped make this progress possible.
Although individual States must maintain flexibility to
address their own needs, we must also work to ensure that
children born in different States do not have substantially
unequal access to medical screening. The death of any child is
a tragedy, but there is no death more heartbreaking than one
that could have been prevented by a simple screening test
followed by prompt treatment.
The Advisory Committee on Heritable Disorders in Newborns
and Children provides all States with accurate, scientifically
based recommendations for their newborn screening programs. The
Newborn Screening Act took the important step of codifying this
committee, and the reauthorization bill that Senator Hagan has
introduced will help to improve and streamline the process
under which it considers conditions for the Recommended Uniform
Screening Panel.
I happen to have a personal connection to this subject. My
father was a Pennsylvania State Senator in the early 1960s when
he heard that a test was available to diagnose children with
phenylketonuria, or PKU. I would like to enter into the record
an excerpt from his memoir, detailing his successful efforts to
mandate a State test for PKU:
My first cause as a State senator was helping
children. Shortly after taking office, I heard about a
problem known at the time as PKU. It was an acronym for
the long, clinical name of a birth defect which
prevented an infant from metabolizing certain foods,
including milk. Undetected, the ingestion of such food
would cause normal babies to become [intellectually
disabled]. For some reason the State of Pennsylvania
had no law on its books requiring the simple test
needed to detect the presence of PKU. Once detected, a
simple change in diet could correct the problem. Babies
throughout Pennsylvania who might have been spared were
instead being born with that defect going undetected.
The test cost practically nothing, I learned. So why
weren't we requiring it by law? It did not strike me as
a complex problem. So we passed a simple law--just a
few lines on paper--requiring that Pennsylvania's
babies be given the PKU test. Thirty years later I
still count it as among the best things I ever did. A
simple change in diet can protect a child from a
lifetime of [intellectual disability], thanks to the
passage of that simple law. I remember reading a small
article a few months afterward about the first baby who
had been found in Pennsylvania with PKU since the new
law had taken effect. A healthy, beautiful baby, saved
from [intellectual disability].
We have made too much progress over the past 50 years to
stop now. We must continue to invest in our newborn screening
system, and we must continue to support groundbreaking new
research at institutions such as the NIH. I look forward to
continuing to work with Senator Hagan and the other cosponsors
of the Newborn Screening Saves Lives Act to ensure that we are
building on the success of this program.
Senator Hagan. Any time. Thank you. Thank you, Senator
Casey.
This is a question for Dr. Howse and Miss Bonhomme about
babies born outside of the hospital setting. While most babies
are born in hospitals today, some parents do choose to have
their babies born at home or in other settings. In fact, since
2004, I understand that the rate of births occurring at home
has risen nearly 30 percent in the United States.
These newborns and their families should not miss out on
the lifesaving opportunities presented by screening just
because the provider setting in which they are born is not in
the hospital.
Dr. Howse, can you tell us how the newborn screening system
covers babies that are not born in a hospital and does that
occur?
Ms. Howse. Well, I am going to defer to my Baby's First
Test colleague for the particulars of outreach.
The quick answer to your question is it is really very
unfortunate for any of the babies who are born at home not to
have a link into the hospital so that those tests can be taken
care of. I think in many cases, there is active partnership
between the home birth attendant or the midwife. There is
active partnership with an obstetrician and with a nearby
hospital so the baby can be brought in and be tested. You know,
it is quite important that that happen in the first 48 hours.
The first 24 hours would be even better. So I think the problem
is recognized and there are bridges for outreach and connection
of the baby.
But clearly you put your finger on a potential problem and
that is the babies that are born at home that do not have that
kind of linkage and they go without testing. And it is
something that we need to continue to be very vigilant about.
Thank you.
Senator Hagan. Miss Bonhomme.
Ms. Bonhomme. Great. Thank you for that question.
We have done a lot of work to really try to understand,
yes, most babies are born in the hospital setting, but what
about all the other babies that are born? And we have done a
lot of work with nurse midwives to understand both how do they
do newborn screening and it really does depend on the State.
In some States, the midwife can actually do the filter
paper blood collection, and they will do it, and they are kind
of that link. In other States, the family will go and see the
pediatrician at 48 hours at their very first pediatric visit.
But it does vary by State.
One thing that we have done is really to understand what
are the perspectives of nurse midwives in terms of newborn
screening because that is going to tell us what they are saying
to the families whose babies they are delivering.
We have actually done focus groups with birthing centers
here in Washington, DC to get a better sense of what their
educational needs are. Generally, it is just that they know
that newborn screening is supposed to happen. They know they
are supposed to collect this blood on this filter paper, but
they are not exactly quite sure why, or where the information
goes, and all of that.
It is one reason that Baby's First Test--not only do we
educate parents, but also all those health professionals,
including nurse midwives because they are a very strong link
between families and this public health program.
Senator Hagan. Dr. Howell, if these children are not born
in a hospital setting, and if a midwife does the test, what is
the best time to actually do that test? Can it be done right
after birth?
Dr. Howell. It should be done and we recommend between 24
and 48 hours.
Senator Hagan. But it could be done at like 2 minutes.
Dr. Howell. It should not be done at 2 minutes.
Senator Hagan. That is what I thought.
Dr. Howell. In other words, most States quite properly, if
a test is done within the first 24 hours will require a repeat
because there are so many changes happening that soon after
birth, so that that would be early.
And I think as Jennifer and Natasha have pointed out, many
of the midwives have connections so that the baby might go to a
site within 24 to 48 hour. They should not be delayed because
certain of the conditions that we screen for, notably
galactosemia, you need a very rapid diagnosis and to delay for
a week is much too late. You like to have the data back to the
baby in under a week.
Senator Hagan. Miss Bonhomme, in your example, the midwife
would have to either come back or the child would have to be
taken.
Ms. Bonhomme. Right. And oftentimes, the midwife is already
planning to come back to visit the family. They will do the
delivery, and leave making sure everything is OK. But then the
next day, they will come back, particularly in rural areas to
make sure that everything is still going along as planned.
Because of that, it is pretty easy to be able to fit it
into the already scheduled appointments, if you will, with the
midwife.
Senator Hagan. Thank you. Thank you.
The Newborn Screening Saves Lives Act put into law
significant support for the Nation's newborn screening system
including grants to expand State programs, technical
assistance, and quality assurance for State labs, and then
researched into additional conditions that may be screened by
the States.
Authorization for these programs expires at the end of this
fiscal year, which is next Tuesday. Senator Hatch and I
introduced a bill in July to reauthorize and make important
improvement to this law, which is what we are talking about.
Aside from the changes included in our bill, Dr. Howell,
Dr. Howse, Miss Bonhomme, can any of you describe generally
just a statement or so about why this reauthorization of this
law is so important?
Dr. Howse.
Ms. Howse. Yes, first of all, I thank you very much for
that excellent question.
I really want to underscore the importance of the deadlines
that are in the law, the timelines for the action by the
Secretary's committee because you heard Dr. Howell speak very
eloquently about the successful candidates out of the discovery
pipeline. Those need to be linked very quickly with the process
that is put together by the Secretary's committee so those
recommendations can be quickly evaluated and responded to by
the Secretary, and States can get that information quickly. So
I think that is a very, very important part of the bill.
Then simply to continue the programs that are established.
They are good programs. They are well-formed; they are well-
accepted by States. They allow for the continual improvement of
newborn screening. The various parties accept the way the
program works as a Federal-State partnership. So I think we
should take the program that is well working and continue it in
an uninterrupted fashion.
We are very concerned about the potential for interruption
in a program that has a lot of moving pieces, but the pieces
are a well-connected through the legislation. This is a proven
program. So we are very, very concerned, really. We so
appreciate your effort, and we are just very concerned that the
program continue in an uninterrupted fashion.
Senator Hagan. Dr. Howell.
Dr. Howell. I think several things that we might comment
about is that the States are always very, very squeezed for
funds. I think that the funding for the States to add and
innovate is really very important, and without the legislation
that is not going to happen. The State labs tend to not have
new money, and so they are conditioned to be added, and so that
their resources are tremendously stretched. So this is really
very, very important.
Other things that are in the legislation, that are really
critical to making the whole system work, is that the new
legislation requires that the committee meet at least four
times a year and at least two of those meetings must be in-
person. I think the meetings of this committee are very
essential to be in-person because when they are in-person, it
provides an opportunity for a variety of people, advocates and
other people, to come and talk to the committee, and that makes
a huge difference. So I think that the requirement of meeting
in-person and having four meetings a year to move things along
is really essential.
Again, the research efforts are just so important. There
are so many. For example, some of the conditions that we can
screen for, we do not really have very effective treatments
for, and we will not get those treatments without NIH funding.
It has just got to be there. Again, HRSA is responsible for
supporting this committee, and they need to have the money to
do evidence reviews. So I think that the whole spectrum of
things that are included in this bill are just absolutely
essential.
The United States is unquestionably the world leader in
newborn screening and that is a great thing to brag about, but
it also means that we are saving lives in the United States.
And without this legislation, we cannot continue to be that.
I think that those would be a quick summary of why we
should really urgently pass this legislation.
Senator Hagan. Thank you.
Miss Bonhomme.
Ms. Bonhomme. The issue with going last, everyone has hit
all the key points very nicely, but what I will say is that
while newborn screening is a State program, the funding at the
State level is still limited, and this reauthorization would
really allow the national dialog around newborn screening to
continue.
Oftentimes States do not really have enough money to even
do all the educational efforts that they would want to that
today we have talked about are so important. Being able to have
the reauthorization will allow for the programs, such as Baby's
First Tests, but also the evaluation programs that fall
underneath the law to continue to go further. That is really
key because if there is a disruption in that, we really will be
lost. We will lose data and potentially lose lives around that.
So this reauthorization is really key.
Senator Hagan. Mrs. Mullis, you and your family have
personally experienced the fact that newborn screening does
saves lives. Do you have any comments you want to share on this
reauthorization?
Mrs. Mullis. I would just like to reiterate what the rest
of the panel has said. I feel that it is very urgent so that
the conversation can continue.
I cannot speak enough to how important this is to our
family. We were very fortunate that we were in a place, in a
hospital that had the capability to do this. We are between
Duke and UNC. We have a lot of very good medical professionals
in our area. So the newborn screening was talked about and
shared with us when we first found out about Ethan's original
birth defects, not including his heart.
I just feel very strongly that other families and other
babies should be afforded that same opportunity.
Senator Hagan. Thank you. Thank you.
Let me talk about the financing of newborn screening. I
understand that screening programs, and obviously we have heard
in the testimony it varies from State to State, but I think one
of the questions that parents may have about newborn screening
is whether they will be able to pay for more tests or whether
the baby will not be tested if they do not have health
insurance.
Can the panel, can you explain how most State newborn
screening programs are financed and whether the insurance
status of the parents has any effect on whether the newborns
are screened?
I know that in North Carolina, the screening fee is $19. In
Wyoming, the fee is $70 and in Utah, the fee is $103. The
amount of the fees varies widely from State to State. Are the
newborn screening fees set by each State and are they typically
covered by insurance?
Miss Bonhomme.
Ms. Bonhomme. Sure, I will start with that.
Senator Hagan. Obviously, when you look at these fees
compared to any sort of treatment, we know that the screening
must take place.
Ms. Bonhomme. Correct. Each State determines its own
newborn screening fees. I think a lot of that plays into the
lab and what tests are included.
Now, one thing that we make very clear to parents is even
if they do not have insurance, they will be able to get newborn
screening. That is something that when we were building Baby's
First Test, and asking about information about fees and putting
that on the Web site, every State that I spoke to said,
``Please make it clear that no matter what the dollar
amount we list, we will find a way to cover the newborn
screening for each baby.''
So typically, there are the fees that we mentioned, but
also some States have a fund that comes from different taxes
that help support the newborn screening program.
Dr. Howell. It is a potpourri of funding and it is very
interesting. Some States do not charge anything. For instance,
New York State pays for its entire newborn screening laboratory
out of general funds and a variety of things. But it is the one
program that I can point to that is universal. It is a public
health program and every baby is screened regardless of the
ability to pay.
The way it works in most States that charge a fee is that,
let us say, you are born at a given hospital, the hospital
receives a bill, and they then decide how they get the money.
The patient ordinarily does not, out of his or her own pocket,
pay any of those fees.
Newborn screening is arguably the best bargain in the
United States. It is estimated that it costs a little over $100
to do the initial blood spot and the initial screen, which
means that the total program in the United States costs a
little over $400 million a year.
Now you say, ``That is a lot of money,'' and it is a lot of
money, but it is less than what we spend in 1 week on drugs for
hypercholesterolemia to put things in perspective, so it is an
enormous bargain. And again, all babies will get screened
regardless of their ability to pay, and so that is something.
It probably is the only healthcare item I can think of that you
can say that about. There may be others, but it is certainly
fairly unique.
Senator Hagan. Dr. Howse.
Ms. Howse. Just connecting that to a question that Senator
Casey had asked about why States might not have the full panel
in place or why there might be delays when a new condition is
recommended. Well, part of that does tie to the question of
funding because it costs additional resource to implement a new
test. To add that to the laboratory's responsibility, to make
sure that the followup and specialty services are in place, et
cetera.
But the bottom line is that the burden does not come to the
families. States have a number of methods about how they pay
for newborn screening. Many of them now have special funds that
are a combination of fees and money that is appropriated by the
legislature. I would really commend the States, Senator, for
the manner in which they have determined how they are going to
put together the funding packages to make this program work.
I think that despite enormous pressures that have faced the
States, State legislatures, and Governors, they have gone to
great lengths to make sure that this program is in place, that
it expands properly when new screening conditions are
recommended, and that the burden does not fall to families.
Thank you.
Senator Hagan. Miss Bonhomme, in your testimony, you stated
that parents expressed a desire to learn more about newborn
screening earlier in their pregnancy, but that most parents
actually do not remember getting that information.
What are the basic things that you would advise parents
that are expecting to do during the prenatal period to actually
learn about or to prepare for the newborn screening?
Ms. Bonhomme. What we have heard from parents is that they
do not want to hear about newborn screening after the fact.
They want to feel that they are a part of the health decisions
around their baby even before the baby is here.
So we really do encourage parents to ask their doctors,
either ask their prenatal physician or a prenatal nurse. Also a
number of people speak to the pediatrician before the baby is
born, so really bringing it up in that initial meeting with the
pediatrician to see, ``When will I hear about the newborn
screening results? '' those types of key questions so that they
can start the dialog early.
A lot of times we are all busy, including physicians. But
it really is, if parents know the right questions to ask, they
can put it on the radar of their health professional and start
the dialog early.
Senator Hagan. We talked a little bit about some of the new
technological developments. Originally, it was the development
of the dried blood spot test that allowed us to engage in the
newborn screening in the first place which, to me, is just an
outstanding scientific feat.
But then the development of the tandem mass spectrometry
has allowed us to significantly expand the number of conditions
that can be screened. And then the use of the DNA extraction
and molecular testing has greatly improved the accuracy of
newborn screening, as well as made the screening of these new
conditions possible.
You have covered some of this, but if you could expand on
some of the other new technological developments that you think
are just over the horizon. How will they shape the future of
newborn screening? And as the Secretary's Advisory Committee,
NIH, and the medical community, how they consider the
implications of the new technological advancements like whole
genome sequencing. Will there be formal opportunities for
parents' voices to be heard in those debates?
Dr. Howell. Tandem mass spectroscopy has, of course, been
the hallmark of the technology that has permitted us to expand.
And again, this technology continues to be very useful and
there are other things you can do. In other words, you get
many, many compounds at once.
But I think that the technology that is on the horizon that
will be shaping the future is whole genome, whole exome
sequencing.
Senator Hagan. What was the other one?
Dr. Howell. Whole exome or whole genome, in other words,
with exomes you look at the active part of the gene and when
you do the whole genome, you look at every little base pair.
And so, most of those studies will be looking at the functional
genes or the exome.
The National Institutes of Health has recently awarded four
grants that look at the impact of whole genome, whole exome
sequencing on newborn screening. And you can get out of the
dried blood spot, you can extract a sample of DNA that is
adequate enough to look at the whole exome or the whole genome.
This will be, indeed, an extremely powerful technology as
far as the ability to look at conditions that we currently do
not screen for, because you will be able to look at any gene of
interest, et cetera. I think that that technology will clearly
be a driving force of the future.
Now, the question of will folks have an opportunity? All
four grants that the NIH has recently awarded has a required
section within them on the ethical, legal, and social issues of
this technology. So that all of those grantees--be it at the
University of California San Francisco, Chapel Hill, or
Missouri, et cetera--they will all be having very careful looks
at the ethical, legal, and social aspects of using this
technology in newborn screening.
I think the technology will be extremely important in
helping us understand some of our newborn screening findings.
For example, when we have a baby born with certain conditions
like Krabbe Disease, for example, one of the conditions
screened in New York State, you have a low enzyme activity on
the blood spot. But you cannot predict reliably whether that
baby is going to have a really serious outcome or not so bad.
And by looking at the whole genome, in other words you
basically are looking at the whole environment.
By looking at the whole genome, the whole exome, you are
going to be able to decide, ``Well, goodness. I think this baby
is going to do pretty good.'' Or, ``We have some really serious
problems.''
I think to answer your question, the whole genome, whole
exome sequencing will be the wave of the future. It is just now
in some important pilot studies recently funded jointly by
Child Health and the Genome Institute, and all of those have
big time efforts to look at the implications for the family,
and the community, and the public at large. And I think there
will be tremendous care exerted as such technology advances to
the public.
Senator Hagan. Thank you.
I was pleased to hear that UNC Chapel Hill also got one of
those grants too, to be a part of this study.
Dr. Howell. Yes.
Senator Hagan. Before I became a U.S. Senator, I served on
the ethics committee of a local hospital. And so I have been a
witness to many discussions within family members on issues
concerning many of the ethical concerns in a hospital setting.
So it is something that, I know, will be quite a bit of
research, scientific, and ethical debate.
Dr. Howell. Those are very important debates.
Senator Hagan. They are. They are very, very important.
A question on followup assessment. This bill expands the
scope of the current HRSA grants to ultimately ensure that
followup care for newborns and families occur.
Dr. Howse, Dr. Howell, can you describe what the
appropriate followup care from a nurse or a doctor receiving
the newborn screening results should be, and what the common
gaps are in providing the followup care?
Ms. Howse. I will make a couple of overview comments and
then invite my colleague, Dr. Howell, to speak very
particularly about pediatric care.
The key in newborn screening is that this is a program for
which a test is linked to an effective treatment. That is
really the heart and soul of the program. A test is linked to
an effective treatment. And there is urgency, there is a great
deal of urgency in terms of timely intervention and timely
treatment for those newborns. The key to followup is rapid-fire
notification between the lab, the parents, the hospital, and
the physician of record.
Often there are challenges when a baby is released from the
hospital to make sure that pediatric care is immediately
available to the child. So that is why there is an emphasis in
the bill, because that was sensed as an area that needed to be
strengthened, frankly.
One of the key questions has to do with the parents'
ability to be connected to a primary physician, a pediatrician,
and how that gets managed between the time of release from the
hospital to the parents going back home. Insurance coverage
matters, whether the parents have Medicaid or some other form
of insurance. There have been, frankly, some issues there about
continuity of care. So I do think that is an area that we need
to look at.
From a clinical standpoint, though, I would really invite
Dr. Howell to speak about how that connection gets made and how
vital and important it is.
Dr. Howell. Let me make a couple of comments--the followup
starts with the initial test. And what happens is that the
State laboratory has an abnormal test that they confirm in the
lab and so forth. They contact the primary care person who is
usually a pediatrician or a family practitioner.
The initial problem at that point has been addressed fairly
aggressively because of the following problem. Each of these
conditions is individually rare. So that on Friday afternoon,
if the lab in Raleigh calls a pediatrician in Cary on Friday--
and this always happens on Friday afternoon about 4 o'clock--
and says, ``We have just had an abnormality in a fatty acid
oxidation defect like
Medium-Chain acyl-CoA dehydrogenase.'' And so the pediatrician
or the primary care doctor probably has never heard of this
condition. It would be unusual to have heard of it.
So one of the things that has been done to do this with
regard to the panel, every condition on the panel, the American
College of Medical Genetics has prepared a 1-page document that
is called an ACT sheet, Immediate Action Sheet and it
summarizes the name of the condition. It tells what the
immediate problems are, and what you should do, and it has some
references. And most State labs now are faxing that to the
physician at that point so that when he or she calls the
family, they will have a little bit of information already.
They will know a little bit about it so that they say, ``We
need to repeat this.'' So that is the first, immediate
followup. And then, obviously, depending on the condition, you
need to institute the therapy.
The highly specialized therapy is usually coordinated
through a referral center. For instance, if this baby is born
in Cary, they would either go to Chapel Hill or to Duke, very
likely, for followup. And the diet would be instituted and then
they would be followed up long term with their doctor.
Some conditions require really aggressive, long continuing
treatment such as Pompe Disease where you have to have regular
infusions, and those would also be done.
Now, the other thing that is in this legislation that is
very important is that we have never had a systematic way of
following up data on these children.
Senator Hagan. Right.
Dr. Howell. So we do not know a lot about some of these
conditions except PKU, which had a Federal study.
So one of the things that is very important is that we
really need to get more of these babies into followup programs
so that we enter data on them at 6 months, 1 year so that when
we come back in 10 years, we can say, ``This is what has
happened.'' Or, ``We need to do this,'' so you can develop new
therapies and new modifications.
But basically, the long-term followup is done, usually, by
the primary care doctor and in conjunction with a regional
medical center. And the State laboratories have been very, very
experienced over the years. They know who to call.
For example, they will call. For instance, like this baby
born in Cary that I just brought up, they will also call the
lab or they will call the places at Duke and at Chapel Hill,
and give them a heads up that there is a baby in their region
that will likely be calling, so that they do not drop through
the cracks. And I might point out the States are aggressive in
finding these children.
I began my career at Johns Hopkins near here and the State
patrol would go out and find a baby if the family could not be
located because you need to find them and get them in. And the
States have really been aggressive in discovering these early
sick babies.
Senator Hagan. Thank you for that background. I think that
is very important and it certainly does paint a picture as to
how the followup is actually done.
I think what you have stated too is how important the
provision is in this bill, after 50 years of the screenings,
that we really do need to have these long-term studies done,
and followup on the children that have had abnormal screenings
and, obviously, treatment.
This is an interesting thought. If Ethan had been born
during the height of a hurricane, what would have taken place?
I know that when you look at these natural disasters like
Hurricane Katrina, what does that do to disrupt the newborn
screening program?
The law required the CDC to write a national contingency
plan with instructions for how to react in those instances. Our
bill would require that plan to be updated at least every 5
years because we all know that babies do not stop being born
just because all of a sudden there is a fire, or a hurricane,
or a flood, or a power outage.
So Dr. Howse, do you know how the contingency plan was
helpful when Hurricane Sandy hit up in the northeast last year,
and how the affected States were able to maintain their newborn
screening program?
Ms. Howse. Well, first of all, every State does have a
contingency plan in place, and we did not receive any reports
of interruptions to the newborn screening program in New York
as a result of Hurricane Sandy.
We know that many of the medical facilities, particularly
in New York City, were definitely affected very adversely. But
there seems to have been a very supreme effort made in New York
and New Jersey to make sure that vital medical services
continued uninterrupted.
We know there were many emergency pregnancy labor and
delivery situations that were handled. We know NICU babies were
evacuated often in the arms of their nurses and doctors to be
brought to more safe and secure locations. We also received, in
addition to those kinds of reports, no indications that there
were interruptions in this vital testing and followup. So I
would, again, really commend the health professionals and the
officials responsible.
That being said, no plan survives its first contact with
reality. So I think it is very important for this provision to
continually and regularly update those contingency plans, and
make sure that particularly these babies do not fall between
the cracks when Mother Nature comes to us in such a difficult
way.
Senator Hagan. Miss Bonhomme, do you have any examples of
actually getting out and speaking with parents that have had
deliveries during natural disasters?
Ms. Bonhomme. I have not spoken to any parents directly who
had experience during the disasters, but I was in quite a bit
of contact with the New Jersey Department of Health during that
time.
And really from their experience, the fact that there was
this plan in place, which actually forced different agencies to
speak to each other beforehand and build the relationship
before there was a disaster. When the Hurricane hit, that
newborn screening program in New Jersey was able to pick up the
phone and say, ``Hey, we need help. We need to put this plan
into place.'' And what actually happened in New Jersey is that
there were State troopers that went and picked up the blood
spots from hospitals and brought them to the lab.
And so I think it is the fact that there was a plan in
place and people had met each other before. As you know,
relationships are so important, so that there were these State
troopers who knew what newborn screening was and why it was
really important. I think that is just such a great example of
why having this type of plan in place is so key, and why we
need to keep those efforts going, and make sure that those
plans are updated every 5 years.
Senator Hagan. You know, it is great. I had not even
thought about such a situation, but obviously, children do
continue to be born during these natural disasters. So it
certainly shows the efficacy of planning and then carrying it
out, and building those relationships that you said. That
certainly is very worthwhile.
Before the meeting started, Dr. Howell, you and I were
speaking about how we are at the 50th Anniversary for this
newborn screening in the United States. But what are other
countries doing, looking at what I would call the best
practices happening in the United States?
Can you just share a couple of thoughts before we end our
hearing?
Dr. Howell. I think that there is interest throughout the
world, really, at the current time in newborn screening.
As I mentioned briefly to you in the hall, Europe has been
really interested in trying to harmonize its efforts between
the members of the EU, the European Union, and that is even
more difficult than it is to do between the States.
But in Europe, there is tremendous variation between the
countries. You have countries like Austria and Germany that
have programs that are very similar to ours. The United Kingdom
has a very modest number of conditions on their program and
they are very slowly moving ahead on that, but there is
considerable discussion about trying to move ahead. And in all
circumstances, they are very interested in how the United
States has moved ahead and harmonized that. And so, we are
invited to talk with them.
I think the National Institutes of Health and some other
groups have also sponsored some meetings in the Middle East and
North Africa where newborn screening, for example, is extremely
well developed in oil-rich countries such as Saudi Arabia and
Qatar. But in the more modestly funded countries, they have
very little newborn screening.
It can be particularly beneficial in many countries of
Africa because you have a high degree of first-cousin
marriages. And when you have intermarriage, it dramatically
increases the frequency of rare recessive conditions. So that a
condition here that might occur in 1 in 20,000 in a country
with intermarriage, it might occur in 1 in 5,000.
So I think that there is a great deal of interest in
working with these countries to identify important conditions
that can be identified and treated simply because they also
lack the infrastructure. So there are a lot of discussions
there.
China has a spotted screening program. They, again, are
trying to move ahead in that. Other places like Australia and
New Zealand have fairly well developed programs, but there is a
potpourri around the country.
I think that one of the interesting things is that everyone
is interested in what is happening in the United States, which
is kind of always nice when someone thinks that the United
States is doing something well.
Senator Hagan. I think it is important that newborn
screening does save lives.
I do think it is really important to reiterate, again, that
in 2011, the CDC recognized the advances in newborn screening
as one of the 10 great public achievements in the United States
during the decade of 2001 to 2010.
For all of you here today, I really do, in particular Dr.
Howell, thank you for all the past work that you, and the March
of Dimes, Dr. Howse, have done to make this such a fundamental
important health aspect in our country. Then also knowing, we
have got to build on that. We certainly do need to expand it
and to get this reauthorization done.
I want to thank all of you today for your testimony. The
hearing record, as I stated earlier, will remain open for 10
business days for the other Senators to submit their statements
or questions for the record.
And we will now adjourn this hearing.
[Additional Materials follow.]
ADDITIONAL MATERIALS
Prepared Statement of Marcia Boyle, President and Founder,
Immune Deficiency Foundation
Chairwoman Hagan, Ranking Member Enzi and members of the committee,
thank you for convening this hearing to focus on the importance of
newborn screening. I submit this testimony for the record on behalf of
the Immune Deficiency Foundation (IDF). Founded in 1980, the Immune
Deficiency Foundation (IDF) is the national patient organization
dedicated to improving the diagnosis, treatment and quality of life of
persons with Primary Immunodeficiency (PI) diseases through advocacy,
education, and research. These diseases occur in persons born with an
immune system that is either absent or hampered in its ability to
function. These diseases are caused by hereditary or genetic defects
and can affect anyone, regardless of age or sex. The World Health
Organization recognizes more than 185 primary immunodeficiency
diseases. My comments today will focus on Severe Combined Immune
Deficiency (SCID), one of the rarest and the most devastating of these
diseases.
SCID screening in newborns became possible just a few years ago
with the development of the T-cell receptor excision circles (TREC)
test that can detect SCID using the same dried blood spot filter cards
that are currently collected from all babies to screen for a variety of
inborn conditions. Infants affected by SCID lack T-lymphocytes, the
white blood cells that help resist infections due to a wide array of
viruses, bacteria and fungi. These genetic defects lead to extreme
susceptibility to serious illness. As a result, the condition is fatal
in infancy unless treated, usually with bone marrow transplantation.
Transplants done in the first months of life have the highest success
rate. A survey of more than 150 patients, commissioned by IDF, found
that SCID patients who were diagnosed early and treated by 3.5 months
had a 91 percent survival rate; those treated after 3.5 months had a 76
percent survival rate. If diagnosis is late, even a successful bone
marrow transplant can still leave a patient with persistent health
problems.
IDF was very pleased that Dr. Rebecca Buckley of Duke University
served on the Advisory Committee on Heritable Disorders and Genetic
Diseases in Newborns and Children. Dr. Buckley, Chair of the IDF
Medical Advisory Committee, has spent most of her career addressing
genetic disorders of the immune system and has been a strong proponent
of newborn screening for these types of diseases. She has been a
pioneer in the use of bone marrow transplantation to provide immune
reconstitution to all infants with SCID.
The diagnosis of SCID very early in life is a true pediatric
emergency, and the decision to screen for SCID will literally save the
lives of infants. We are very pleased that this has been recognized at
the Federal level. In May 2010, SCID was added to the Recommended
Uniform Screening Panel. Since that time, we have been working to
ensure that States implement newborn screening for SCID. To date, 16
States and the territory of the Navajo Nation have already implemented
newborn screening for SCID. Based on the screening done in these
States, SCID is estimated to occur in approximately 1 in 40,000 to 1 in
70,000 births. Without newborn screening for SCID, these children have
little chance at an early diagnosis and treatment. Newborn screening
has led to the identification and treatment of dozens of infants with
SCID and many more with other kinds of T-lymphocyte deficiencies in
those States that are screening. Successful screening ensures that
these babies will have the opportunity for early treatment and the
chance of a normal, healthy life because of early detection.
This fall, the Center for Disease Control and Prevention's (CDC)
National Center for Environmental Health, Newborn Screening, and
Molecular Biology Branch publicized that three more States--Georgia,
Oklahoma, and Virginia--will be funded for a total for $1,800,000 under
the ``Program to Support New Implementation of State of Territorial
Public Health Laboratory Capacity of Newborn Bloodspot Screening of
SCID.'' These States will be compensated between $250,000 and $300,000
per year for 2 years, which will help support the implementation of
SCID to their newborn screening panels. CDC previously funded
Wisconsin, Massachusetts, Michigan, and Minnesota to include SCID on
their newborn screening panels and now, all four States maintain active
NBS SCID screening programs. Today, 44 States and the District require
screening of at least 29 of the 31 treatable core conditions.
Newborn screening has a profound impact on children with SCID and
their families. Therefore, IDF urges Congress to pass S. 1417, ``the
Newborn Screening Saves Lives Reauthorization Act of 2013'' introduced
by Chairwoman Hagan and Senator Hatch. Importantly, this legislation
would reauthorize Health Resources and Services Administration (HRSA)
grants to States to expand and improve their screening programs,
educate parents and healthcare providers, and improve followup care for
infants with a condition detected through newborn screening and
continue to support the Advisory Committee on Heritable Disorders in
Newborns and Children, which provides States with a Recommended Uniform
Screen Panel to help ensure every infant is screened for conditions
which have a known treatment. The legislation includes a number of
provisions that will strengthen current efforts, ensure timely review
of new conditions, promote quality assurance and support research in
this area.
As we celebrate the 50th anniversary of Newborn Screenings this
year, on behalf of IDF, we hope Congress will support the facilitation
of a comprehensive newborn screening program in every State to save the
lives of thousands of newborns.
Thank you for your serious consideration of this critical issue.
Response to Questions of Senator Warren by Natasha Bonhomme
Question 1. Newborn screening is carried out on a State level by
public health departments, and their labs are doing some of the
research that leads to new tests. State budgets, and public health
departments' in particular, are under considerable pressure. Can you
tell us about the States' need for Federal funding for screening, and
the impact of funding reductions on public health labs, screening
programs, and our ability to invest in further research?
Answer 1. While newborn screening is run at the State level,
Federal funds are used to maintain the integrity of these programs from
both a laboratory and followup perspective. As State budgets contract,
there is a growing need for Federal support to maintain the basic
functions of the newborn screening programs. The Centers for Disease
Control and Prevention (CDC) assesses the quality of newborn screening
programs. This ensures that State laboratories are compliant with the
Federal Clinical Laboratory Improvement Amendments (CLIA). Without the
support of CDC, States would have to find other ways to meet CLIA
requirements. Even if this were possible, there would be a great deal
of uncertainty regarding the validity of a new assessment process.
Through CDC, Federal funds are also used to help newborn screening
programs improve the quality of tests as well as provide training on
new testing methodologies. Without this work, progress in detecting
treatable conditions would greatly diminish and could lead to negative
outcomes for children who otherwise would have been diagnosed early.
Without the Federal funding, States would not be in a position to
invest in updating their approaches to screening, causing newborn
screen programs to regress.
In recent years, Federal funds have also gone to support the
implementation of and education around conditions newly added to
screening panels. The Health Resources and Services Administration
(HRSA) currently runs the Critical Congenital Heart Disease (CCHD)
Newborn Screening Demonstration Program. This program focuses on
increasing the number of newborns screened for CCHD before discharge
from newborn nurseries. The grantees of this program utilize validated
screening protocols and enhance State newborn screening infrastructure;
as well as create or build upon their State's infrastructure to collect
and utilize information from various hospitals within a health
information network for the detection of CCHD and related patient
followup and outcomes. HRSA also oversees a number of cross-State/
cross-regional programs to encourage sharing of information and support
for public education, including Baby's First Test, the Nation's newborn
screening clearinghouse.
Question 2. As science is rapidly advancing, some parents have
concerns about research on their baby's blood samples. Massachusetts
has a mandatory screening panel, and optional tests that the Department
of Public Health is researching to determine whether there is enough
evidence to require them. Parents must give informed consent before
these optional screens. This strikes a good balance between making sure
that all babies are screened, and making sure that parents are informed
about what is research and what is clinical care. Are there national
efforts underway to better inform parents about research that may take
place with their children's blood samples?
Answer 2. Many States will have an optional or pilot panel.
Typically, newborn screening programs use these panels to determine if
there is strong enough evidence to include certain conditions on their
mandatory panel. Because every State has a different protocol adding
conditions to the required list, the process of consent does vary.
There are national efforts to have State newborn screening programs
share their process so best practices can be developed. Because not
every State at all times has a pilot program or optional list of
conditions running, it is important that educational efforts not only
continue but also expand. This will ensure that parents in all States
are aware of newborn screening and what conditions are included as well
as how the bloodspots potentially may be used in research and quality
control for the State programs.
There are also specific efforts in many States to inform parents
and the public about the different types of research that may take
place with a bloodspot. Particularly, Michigan and Minnesota have done
extensive work on educating the public about how bloodspots are stored
and the potential uses in regards to improving the newborn screening
programs and helping to detect life-threatening conditions. The
National Institutes of Health funded a group from the University of
Utah to better understand what the public, nationwide, knew about this
topic and to determine public options and educational needs around
bloodspot usage and research.
Question 3. Some parents have concerns about the disclosure of
their children's genetic information. It's extremely important that
providers and public health departments are transparent about how
samples are used and stored. Can you tell us how patient information is
protected, and how any genetic information is kept safe?
Answer 3. There is a national push through the work of
organizations such as the Association of Public Health Laboratories, to
encourage all State programs to have and periodically update their
policies on newborn screening information. Baby's First Test works
closely with these entities on having these policies be transparent and
easily accessible to the public. While there are great barriers to
State programs due to budget cuts, there are efforts to build upon
existing infrastructure to keep patient information protected. This
includes protected databases that follow standard procedures for public
health data, limited access to data, and employee training on data
practices and State statutes. All data is kept behind protected
firewalls. Newborn screening programs also comply with their State's
Government Data Practices Act. When research is done, any identifiable
information is removed from the sample in accordance with the Office of
Human Research and Protection guidelines. If for some reason
identifiable information is needed, consent from parents is required
ahead of time.
Response to Question of Senator Warren by R. Rodney Howell, M.D.
Question. Mandatory newborn screening saves lives, however some
parents have concerns with the mandatory nature of newborn screening.
These concerns stem from whether these tests are necessary, cost-
effective, or appropriate for widespread administration. Can you
describe the process and factors considered by the Advisory Committee
to determine whether new tests should be added to the list of
recommended conditions, and the importance of mandatory screening?
Answer. The Advisory Committee (SACHDNC) has developed a lengthy,
rigorous process but fully transparent, process for nominating,
reviewing, and recommending new conditions to the Secretary of Health
and Human Services. Any individual or group can nominate a condition to
be considered for addition to the recommended uniform panel. The
process and the nomination form is described in detail with directions
on the Advisory Committee Web site (http://www.hrsa.gov/
advisorycommittees/mchbadvisory/heritabledisorders/). The nomination
form to be completed by the nominating group includes details about the
affiliation of the nominator and organizations making the nomination.
Section I of the nomination form describes the condition nominated
(type of disorder, screening method, genetic information, case
definition, incidence, timing of clinical onset, and severity of
disease). Only conditions which are very serious (with regards to
morbidity, disability, mortality), and have reliable screening tests
available are considered. Later in this section of the form an outline
of the treatment is required: modality, urgency, benefits,
availability, and potential harms of treatment.
Section II, part A of the nomination form requires evidence of a
validated laboratory test, evidence of widely available confirmatory
testing, and a prospective population-based pilot study. Extensive
laboratory quality information about the screening test is required.
Part B of this section of the form requires information about the
confirmatory testing (validity, type of sample required, is test FDA-
approved, and a list of the CLIA-approved labs in the United States
offering confirmatory testing) Section II, part C requires the detailed
information from the population-based pilot study, including false
positive and negative rates, and number of infants with confirmed
diagnosis).
Section III requires a series of the key references supporting the
nomination.
The nomination form is then sent to HRSA, where it is reviewed to
ensure it is complete, and then sent to the Advisory Committee. The
exact details of how the Advisory Committee handles nominated
conditions has been published in order to ensure transparency of the
process (Committee Report: Method for evaluating conditions nominated
for population-based screening or newborns and children, Calonge, N, et
al. Genetics in Medicine 12:153-159, 2010). Once complete, the
nomination package is studied by the committee's internal nomination
and prioritization workgroup to ensure that it is likely that there is
sufficient information to permit a systematic evidence review of the
natural history and severity of the condition, the analytical and
clinical validity of the screening tests, and the effectiveness of
treatments. If this workgroup feels it is appropriate the nomination is
then moved to an external workgroup for a systematic evidence review.
The external workgroup was established through a competitive
contract through HRSA, and is comprised of an independent group of
experts in evidence review. Since all recommendations by the committee
must be evidence-based, this group conducts a structured, detailed
evidence review of all the issues involved. They have also published
how they do the evidence review, so again that is transparent (An
evidence development process for newborn screening. Perrin, JM, et al.
Genetics in Medicine, 12:131-34, 2010). The current charge to the
Advisory Committee includes cost-effectiveness analysis as one category
of evidence to be considered by the committee. A recent publication by
members of the external workgroup (with the addition of some experts in
cost analysis) has outlined how this information can be gathered
(Decision analysis, economic evaluation, and newborn screening:
challenges and opportunities. Prosser, LA, et al, Genetics in Medicine,
14:703-12, 2012).
After the external workgroup finishes its detailed evidence review
(all of which are published verbatim on the SACHDNC Web site), the
entire committee reviews and discusses all the evidence, asks for input
from the public, and then finally votes on its recommendation. The
committee recommendations are sent to the Secretary of Health and Human
Services who makes the final determination as to its being added to the
Recommended Uniform Screening Panel (the RUSP).
Laws and regulations regarding mandatory newborn screening of
newborns are in force in virtually all States. In all circumstances
States make these rules. Some States have historically had regulations
that required asking permission to perform newborn screening, but from
the information I have these have in general not been observed. The
conditions on the newborn screening panel have been identified as being
very serious, life-threatening, or life-altering conditions. All have
treatments. Since these conditions are inherited in a recessive
fashion, families would not have any way to know that their children
were at risk. And since they are so very serious (some cause profound
retardation, and other sudden death without treatment), it is my strong
feeling that no competent adult could decline a test, minimally
invasive, which could be life saving for their infant.
It is certainly the practice currently that if a newborn screening
test is being performed for a research purpose, permission is asked
from the family. It is interesting that in some recent work where
research studies were being performed on infants in certain hospitals,
the overwhelming majority of parents agreed to the study, although the
condition being studied had, at that time, no treatment. There needs to
be a great effort to better inform parents about newborn screening,
since most at this time are poorly informed. It is most difficult to
include this information at the time of birth since the usual mother
stays only 24 hours in the hospital after birth, and these few post-
partum hours are filled with many activities, and hopefully some rest.
Since the conditions on the recommended uniform screening panel are
individually rare, there are many areas of research needed, such as
long-term outcomes and treatment followup of screened newborns and how
best to obtain informed consent for future newborn screening research.
Response to Questions of Senator Warren by Jennifer L. Howse, Ph.D.
Question 1. Newborn screening is carried out on a State level by
public health departments, and their labs are doing some of the
research that leads to new tests. State budgets and public health
departments' in particular, are under considerable pressure. Can you
tell us about the States' need for Federal funding for screening, and
the impact of funding reductions on public health labs, screening
programs, and our ability to invest in further research?
Answer 1. The March of Dimes recognizes that budget limitations
present many challenges at the State level, and funding cuts can pose
difficult choices for newborn screening programs. For example,
shrinking budgets hinder the ability of States to update their newborn
screening panels with new conditions added to the Recommended Uniform
Screening Panel. Today, 44 States and the District of Columbia require
screening for at least 29 of the 31 treatable core conditions. Federal
funding supports efforts to implement pilot studies that can assist
States to more quickly adopt screening for new conditions. For example,
the Centers for Disease Control and Prevention provided pilot funding
to Minnesota and Michigan to assist with the implementation of severe
combined immunodeficiency (SCID) screening and determine best practices
for other States to implement. While additional Federal resources would
speed implementation of SCID and other conditions in States, reductions
in Federal funding coupled with limitations at the State level could
completely halt the important progress being made.
Cuts to Federal and State funding not only affect the number of
conditions screened, they also affect the quality of the screening
itself. The Centers for Disease Control and Prevention's Newborn
Screening Quality Assurance Program (NSQAP) is a voluntary, non-
regulatory program to assist State health departments and their
laboratories in maintaining and enhancing the quality of test results.
The program provides services to more than 85 domestic newborn
screening laboratories, 31 manufacturers of diagnostic products, and
laboratories in 67 countries. NSQAP has been the only comprehensive
source of essential quality assurance services for dried bloodspot
testing for more than 33 years. In partnership with State laboratories,
NSQAP continues to make improvements in services offered and to meet
the growing and changing needs for newborn screening in the public
health community. Reductions in funding would hamper this progress and
prohibit NSQAP from assisting public health laboratories in developing
and refining screening tests, conducting pilot studies, and
implementing new methods to improve detection of treatable disorders.
Funding cuts would impact the quality of these critical tests that
prevent death and disability.
The March of Dimes would be pleased to provide you with more
information about the impact of budget cuts on specific research
initiatives or related undertakings.
Question 2. As science is rapidly advancing, some parents have
concerns about research on their baby's blood samples. Massachusetts
has a mandatory screening panel, and optional tests that the Department
of Public Health is researching to determine whether there is enough
evidence to require them. Parents must give informed consent before
these optional screens. This strikes a good balance between making sure
that all babies are screened, and making sure that parents are informed
about what is research and what is clinical care. Are there national
efforts underway to better inform parents about research that may take
place with their children's blood samples?
Answer 2. The March of Dimes recognizes that Federal and State
newborn screening laws must strike a careful balance between advancing
public health and protecting individual privacy. Historically, each
State has retained the authority to determine which tests are included
in its newborn screening panel, how those tests are offered to
families, and the operation of systems for storage and future use of
newborn bloodspots. There are no Federal laws or rules about how these
important decisions should be made; however, the U.S. Secretary of
Health and Human Services' Advisory Committee on Heritable Disorders in
Newborns and Children issued a report in July 2011 titled,
``Considerations and recommendations for national guidance regarding
the retention and use of residual dried bloodspot specimens after
newborn screening.'' This report was compiled in order to provide basic
guidance for State policies related to protecting an individual's
privacy and to allow for the important public health uses of the
residual bloodspots.
In addition, the Federal Government supports a comprehensive source
of information about newborn screening, known as Baby's First Test.
This online information clearinghouse is maintained by the non-profit
Genetic Alliance and funded by the Genetic Services Branch of the
Maternal and Child Health Bureau of the Health Resources and Services
Administration (HRSA). The clearinghouse provides current educational
and family support and services information, materials, and resources
about newborn screening at the local, State, and national levels. This
resource is dedicated to educating parents, family members, health
professionals, industry representatives, and other members of the
public about the newborn screening system, including what happens with
the residual bloodspots.
More specifically, Baby's First Test provides parents with detailed
State-specific newborn screening program overviews for all 50 States
and the District of Columbia, including information on all screened
conditions, any ``opt-out'' actions available, and the rules and
procedures in each State that govern the storage and use of dried
bloodspots.
The March of Dimes would be pleased to share further information
with you about any aspect of Federal or State laws or guidelines
related to research on newborn bloodspots.
Question 3. Some parents have concerns about the disclosure of
their children's genetic information. It's extremely important that
providers and public health departments are transparent about how
samples are used and stored. Can you tell us how patient information is
protected, and how any genetic information is kept safe?
Answer 1. The March of Dimes believes in the importance of patient
privacy protections related to the use of newborn screening
information. Each State has laws governing the storage and use of
newborn bloodspots and the associated information. State laws related
to privacy of personal or medical information generally apply to any
unauthorized access to or malicious use of newborn screening
information. Protecting the interests of the infants from whom the
dried bloodspots are obtained is of the utmost importance to State
public health programs, and States continue to refine guidelines for
the use of residual samples.
Most State newborn screening programs routinely use post-screening
residual samples for the purpose of laboratory quality assurance (i.e.,
comparing results of the tests from the screening laboratory with those
of the reference laboratory) and for the development of new screening
methods. This ensures the ongoing accuracy of laboratory equipment and
methods and ensures that results will be correct for all newborns.
Beyond the protections afforded by States, any research undertaken
with newborn bloodspots must be conducted in an ethical manner that
respects and protects the rights of children and their families.
Federal regulations on the protection of human subjects, known as the
Common Rule, apply to all research that is conducted or supported by
any U.S. Federal agency or department. These rules would require
studies that use newborn screening bloodspots be reviewed and approved
by an Institutional Review Board (IRB). Additionally, this research is
governed by protections provided by executive agencies such as the Food
and Drug Administration and laws that govern medical privacy such as
the Health Insurance Portability and Accountability Act (HIPAA).
The March of Dimes would be pleased to supply you with further
information on privacy laws in any specific State or region, or
examples of laws that deal with certain aspects of the permissible uses
of newborn screening bloodspots.
[Whereupon, at 11:28 a.m., the hearing was adjourned.]