The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has been partnering with the Society of Toxicology for the past few years to promote mutual missions and areas of interest, recently announced grant awards to more than four separate institutions that will be involved in research to determine whether sequencing of newborns’ genomes provides useful medical information beyond that of current newborn screening. This research is being funded by 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, 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.
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. Participation is voluntary for those research studies that involve returning results of DNA sequencing to families and physicians, and families are required to provide informed consent. Other research focuses on the analysis of de-identified data, which may be useful in developing and improving screening tests.
The four grantees are as follows: Brigham and Women’s Hospital and Boston Children’s Hospital, Boston; Children’s Mercy Hospital, Kansas City, Missouri; University of California, San Francisco; and the University of North Carolina at Chapel Hill.
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 NICHD website.