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Subject: NIH PROGRAM EXPLORES THE USE OF GENOMIC SEQUENCING IN NEWBORN
HEALTHCARE

U.S. Department of Health and Human Services NATIONAL INSTITUTES OF HEALTH
NIH News National Human Genome Research Institute
(NHGRI)<http://www.nhgri.nih.gov/>
Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD)<http://www.nichd.nih.gov/>
Embargoed for Release: Wednesday, September 4, 2013, 10 a.m. EDT

CONTACT: Steven Benowitz, NHGRI Communications, 301-451-8325,
<e-mail:[log in to unmask]>, Robert Bock, NICHD Communications,
301-496-5133, <e-mail:[log in to unmask]> 

NIH PROGRAM EXPLORES THE USE OF GENOMIC SEQUENCING IN NEWBORN HEALTHCARE 

Can sequencing of newborns' genomes provide useful medical information
beyond what current newborn screening already provides? Pilot projects to
examine this important question are being funded by the Eunice Kennedy
Shriver National Institute of Child Health and Human Development (NICHD) and
the National Human Genome Research Institute (NHGRI), both parts of the
National Institutes of Health. Awards of $5 million to four grantees have
been made in fiscal year 2013 under the Genomic Sequencing and Newborn
Screening Disorders research program. The program will be funded at $25
million over five years, as funds are made available. 

"Genomic sequencing has potential to diagnose a vast array of disorders and
conditions at the very start of life," said Alan E. Guttmacher, M.D.,
director of NICHD.  "But the ability to decipher an individual's genetic
code rapidly also brings with it a host of clinical and ethical issues,
which is why it is important that this program explores the trio of
technical, clinical, and ethical aspects of genomics research in the newborn
period." 

The awards will fund studies on the potential for genome and exome
sequencing to expand and improve newborn health care. Genomic sequencing
examines the complete DNA blueprint of the cells, and exome sequencing is a
strategy to selectively sequence exons, the short stretches of DNA within
our genomes that code for proteins.  

"We are at a point now where powerful new genome sequencing technologies are
making it faster and more affordable than ever to access genomic information
about patients," said Eric D. Green, M.D., Ph.D., director of NHGRI. "This
initiative will help us better understand how we can appropriately use this
information to improve health and prevent disease in infants and children." 

Programs currently screen almost all of the more than 4 million infants born
in the United States each year. Until now, the testing of DNA has not been a
first-line newborn screening method, but has been used to confirm the
screening results of some disorders, such as cystic fibrosis. 

Each of the new awards will consist of three parts:  Genomic sequencing and
analysis; research related to patient care; and the ethical, legal and
social implications of using genomic information in the newborn period.
Teams of researchers will work to further the understanding of disorders
that appear in newborns and to improve treatments for these diseases using
genomic information.  The four grantees are:

Brigham and Women's Hospital, Boston
Principal Investigators: Robert Green, M.D., and Alan Beggs, Ph.D.

This research project will accelerate the use of genomics in pediatric
medicine by creating and safely testing new methods for using information
obtained from genomic sequencing in the care of newborns. It will test a new
approach to newborn screening, in which genomic data is available as a
resource for parents and doctors throughout infancy and childhood to inform
health care.  A genetic counselor will provide the genomic sequencing
information and newborn screening results to the families. Parents will then
be asked about the impact of receiving genomic sequencing results and if the
information was useful to them. Researchers will try to determine if the
parents respond to receiving the genomic sequencing results differently if
their newborns are sick and if they respond differently to receiving genomic
sequencing results as compared to current newborn screening results.
Investigators will also develop a process for reporting results of genomic
sequencing to the newborns' doctors and investigate how they act on these
results. 

Children's Mercy Hospital, Kansas City, Mo. 
Principal Investigator: Stephen Kingsmore, M.D.

Many newborns require care in a neonatal intensive care unit (NICU), and
this group of newborns has a high rate of disability and death. Given the
severity of illness, these newborns may have the most to gain from fast
genetic diagnosis through the use of genomic sequencing. The researchers
will examine the benefits and risks of using rapid genomic sequencing
technology in this NICU population.  They also aim to reduce the turnaround
time for conducting and receiving genomic sequencing results to 50 hours,
which is comparable to other newborn screening tests. The researchers will
test if their methods increase the number of diagnoses or decrease the time
it takes to reach a diagnosis in NICU newborns. They will also study if
genomic sequencing changes the clinical care of newborns in the NICU.
Additionally, the investigators are interested in doctor and parent
perspectives and will try to determine if parents' perception of the
benefits and risks associated with the results of sequencing change over
time.  

University of California, San Francisco Principal Investigator: Robert
Nussbaum, M.D.

This pilot project will explore the potential of exome sequencing as a
method of newborn screening for disorders currently screened for and others
that are not currently screened for, but where newborns may benefit from
screening. The researchers will examine the value of additional information
that exome sequencing provides to existing newborn screening that may lead
to improved care and treatment. Additionally, the researchers will explore
parents' interest in receiving information beyond that typically available
from newborn screening tests. The research team also intends to develop a
participant protection framework for conducting genomic sequencing during
infancy and will explore legal issues related to using genome analysis in
newborn screening programs. Together, these studies have the potential to
provide public health benefit for newborns and research-based information
for policy makers. 

University of North Carolina at Chapel Hill Principal Investigators: Cynthia
Powell, M.D., M.S., and Jonathan Berg, M.D., Ph.D.

In this pilot project, researchers will identify, confront and overcome the
challenges that must be met in order to implement genomic sequencing
technology to a diverse newborn population. The researchers will sequence
the exomes of healthy infants and infants with known conditions such as
phenylketonuria, cystic fibrosis or other disorders involving metabolism.
Their goal is to help identify the best ways to return results to doctors
and parents. The investigators will the explore the ethical, legal and
social issues involved in helping doctors and parents make informed
decisions, and develop best practices for returning results to parents after
testing. The researchers will also develop a tool to help parents understand
what the results mean and examine extra challenges that doctors may face as
this new technology is used. This study will place a special emphasis on
including multicultural families.   

"These pilot studies build upon the nation's very successful public health
newborn screening programs that reach almost all infants born in the United
States," said Dr. Guttmacher. "We will carefully evaluate the use of genomic
data in newborns, including how best to deliver genomic information to
parents and healthcare providers, to see how we can improve our care of
children, who are, of course, our future."

The following numbers represent the newly funded grants: 1U19HD077693-01;
1U19HD077632-01; 1U19HD077627-01; and 1U19HD077671-01. 

Participation is voluntary for those research studies that involve returning
results of DNA sequencing to families and physicians, and requires that
families provide informed consent. Other research focuses on the analysis of
de-identified data, which may be useful in developing and improving
screening tests.  

NHGRI is one of the 27 institutes and centers at the National Institutes of
Health. The NHGRI Extramural Research Program supports grants for research
and training and career development at sites nationwide. Additional
information about NHGRI can be found at <http://www.genome.gov>.
 
About the Eunice Kennedy Shriver National Institute of Child Health and
Human Development (NICHD): The NICHD sponsors research on development,
before and after birth; maternal, child, and family health; reproductive
biology and population issues; and medical rehabilitation. For more
information, visit the Institute's website at <http://www.nichd.nih.gov/>.

About the National Institutes of Health (NIH): NIH, the nation's medical
research agency, includes 27 Institutes and Centers and is a component of
the U.S. Department of Health and Human Services. NIH is the primary federal
agency conducting and supporting basic, clinical, and translational medical
research, and is investigating the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and its programs,
visit <www.nih.gov>.

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This NIH News Release is available online at:
<http://www.nih.gov/news/health/sep2013/nhgri-04.htm>.

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