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NIH Program Explores the Use of Genomic Sequencing in Newborn Healthcare

Published: Wednesday, September 04, 2013
Last Updated: Wednesday, September 04, 2013
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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.”


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