If you were given the option of finding out whether the new addition to the family was at risk of hereditary disease, would you choose to opt-in to genome sequencing?
This is one of the questions centered around a new research program funded by the National Institutes of Health (NIH).
Over the next five years, $25 million will be spent on pilot projects exploring the possibilities -- as well as challenges -- of sequencing every newborn's genome. Four awards will fund studies on the potential genome and exome sequences offer to improve newborn health, research related to patient care, and the ethical, legal and social implications of using genomic information in the newborn period.
"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 the National Institute of Child Health and Human Development (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."
Currently, programs screen millions of infants in the United States, but tests are limited to specific disorders such as cystic fibrosis.
Newborn screening, usually achieved by taking a small sample of blood from the heel, only looks for a a few dozen diseases. However, as sequencing becomes cheaper, researchers believe there is value in looking at infant genome sequencing to further medical knowledge and improve paediatric healthcare.
There will be limits placed on the research for privacy reasons, and the data will not be stored in shared databases that scientists can access offhand, as is the case for many adult-based studies. Returning sequencing results for the children involved in the studies will be voluntary, and it wouldn't make sense to tell parents about risk factors for adult diseases such as Alzheimer's, according to UCSF's Robert Nussbaum.
"For goodness sake, we don't even have a clear idea about what to do about that in adults," Nussbaum says.
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