What is newborn gene sequencing?

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.

genetic sequencing - Newborn baby feet and letters of A, T, C G

The potential of newborn genomic sequencing

“Genomic sequencing has potential to diagnose a vast array of disorders and conditions at the very start of life,” said Alan E Guttmacher, MD, 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, MD, PhD, 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.”

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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.

What is newborn screening?

Newborn screening in the United States is a major public health success that has saved countless lives. Each state runs its own newborn screening program, where almost all newborns are tested for at least 30 (and in some states more than 50) serious-but-treatable conditions that occur during childhood.

Almost all of the current newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers (a measurable substance or characteristic that is indicative of a disease). Currently, the tests used by state newborn screening programs are fast, low cost and accurate in identifying disease before symptoms appear.

How does genomics come into it?

The cost of genome sequencing has now decreased to a price range similar to many other complex medical tests, increasing the possibilities for its clinical application. One potential use for genome sequencing would be to replace or supplement the existing traditional panels of newborn screening tests. Sequencing a newborn’s genome could provide more health information than the current panel of tests, and could potentially be used to guide an individual’s lifetime of medical care, providing early information on both treatable childhood diseases and conditions that occur in adulthood.



Many questions remain to be answered before contemplating a future of routine newborn genome sequencing. Among the questions are:
  • Can DNA sequencing identify the same conditions at birth with as much accuracy and speed as traditional methods?
  • Is having a genome sequence from birth useful for that individual’s clinical care?
  • What if the genome sequence reveals information about untreatable diseases, or even conditions that will not occur until adulthood?
  • What is the risk to newborns that the identification of specific genetic variants, such as a predisposition to a disease, could lead to future discrimination?
  • How might the use of genome sequencing affect public support for newborn screening programs?
  • How feasible would it be for states to perform genome sequencing in addition, or instead of, existing testing programs?
  • Are there additional considerations to collecting and storing newborn genome sequences versus newborn blood specimens?
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Clinicians, scientists, bioethicists and others have debated these issues for several years but, until now, they have been abstract questions.

Thanks to a new research program being funded by the National Institutes of Health, a small number of pilot studies are beginning to carefully examine these questions. The program’s goal is to generate scientific evidence and ethical considerations that healthcare professionals and policy makers can use to formulate future practical applications and policies related to the use of genome sequencing in the newborn period.

Is the government planning to replace newborn screening with newborn genome sequencing?

No. This research effort seeks to determine whether or not genome sequence data could provide additional information that would be of benefit to newborns and their families during the newborn period.

What about the emotional toll on families who receive information about mutations with health consequences?

Studying the ethical, legal, and social implications of receiving genomic information about newborns is an integral component of this research program. While there have been discussions in the abstract about how families will process positive diagnoses, until now these issues have not been studied in depth. There is precedence for this approach.

In the abstract, many experts believed that informing someone that they had an increased risk of developing Alzheimer’s disease (which is untreatable) would cause severe psychological distress. Therefore, NIH funded the REVEAL and REVEAL II studies to explore whether these assumptions were true. Surprisingly, the results of those trials suggested that individuals are not unduly distressed, demonstrating the value of such research.

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It is important that we seek understanding of what, if any, impacts genome sequencing and similar information could have in this possible scenario.



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