National Institutes of Health Launches Newborn Genomic Sequencing Study

The National Institutes of Health (NIH) awarded $5 million to four grantees in fiscal year 2013 under the Genomic Sequencing and Newborn Screening Disorders research program. The five-year research program will involve reading the entire genetic scripts of up to 2,000 newborns, which could someday lead to vast troves of electronic medical records describing each person’s health in voluminous detail.


The grants were awarded to Brigham and Women’s Hospital in Boston, Children’s Mercy Hospital in Kansas City, Missouri, the University of California in San Francisco, and the University of North Carolina at Chapel Hill. Each grant award consists 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.

Ethical Concerns

As early as 2014, the grantee institutions will start recruiting newborns and their families. Participation is voluntary, and requires that families provide informed consent for those research studies that involve returning results of DNA sequencing to families and physicians. Other research, which may be useful in developing and improving screening tests, focuses on the analysis of de-identified data. Results for babies whose DNA is sequenced will be returned to the parents and the pediatrician. These babies will be followed over time, to see how the information affects medical decision-making and whether it has any psychological impact on the family.

As with any medical study, the Genomic Sequencing and Newborn Screening Disorders research program presents questions of health, efficiency, privacy, and ethics. Having access to genomic information may affect future medical treatment or parenting decisions such as diet. A child whose genomic analysis identifies a likely genetic disorder, inherited disease, or adverse drug reaction, may child get faster or better medical treatment than other patients. In Boston, the study will be randomized: half of the participating infants will be healthy, while the other half will be from the neonatal intensive care unit.

Genomic Sequencing

Although babies born in the U.S. are routinely screened for numerous disorders, analyzing the whole genome can help doctors diagnose and understand babies’ conditions, particularly when previously unknown diseases strike. Researchers aim to sequence the babies’ entire genomes in as few as 50 hours, which is similar to the amount of time needed for routine pinprick blood tests that detect inherited diseases and metabolic, blood, and endocrine disorders. 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; exome sequencing is a strategy to selectively sequence exons, the short stretches of DNA within our genomes that code for proteins.