UNC clinical geneticists are part of a national consortium of researchers studying the ins and outs of genome sequencing for newborn health screenings and beyond.

When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests. Most of the time, you never hear about the results because your child is fortunate enough to not have a rare disease, such as cystic fibrosis or sickle cell disease or any of the dozens of conditions for which most states screen. You, as a parent, may not even remember hearing about newborn screening.

Newborn screening is mandatory in most states, unless parents refuse for religious or other reasons. Screening is generally accepted because screening is only performed for a small number of conditions where measures are available to save the baby’s life or mitigate the harms of such conditions, if found early enough. However, now that scientists have developed methods for sequencing the entire genome, what would happen if states began incorporating genome sequencing to find out more about baby’s health? How would that work? What should parents learn about their baby’s genome? What shouldn’t they?

To study these questions, through funding from the National Institutes of Health (NIH), researchers and doctors across the country have formed a consortium called NSIGHT, which includes four NIH grants spanning multiple institutions:

• UNC School of Medicine
• UCSF School of Medicine
• Brigham and Women’s Hospital/ Boston Children’s Hospital and Baylor College of Medicine
• UCSD Rady Children’s Institute for Genomic Medicine and Children's Mercy Kansas City

This consortium will work with parents and conduct genomic sequencing on newborns to develop evidence that may support guidelines for how this new technology could be effectively and appropriately incorporated into newborn screening or the care of newborns.

“Where is the boundary of parental responsibility to learn important health information about their child versus delving too far into genetic information that could take away from that child’s ability to make decisions for themselves?” said Jonathan Berg, MD, PhD, associate professor of genetics at the UNC School of Medicine and corresponding author of a paper about the consortium’s work, published in the journal Pediatrics. “This is one of the main bioethics questions of our time: how much should we protect a child’s capacity to make decisions about what information to learn, or not to learn, about themselves when they become adults? Some people think this concern is an old, quaint notion that is being made obsolete by technology. And some people believe fervently that it could infringe on the child’s autonomy or potentially even harm the child if parents learned or intervened too much.”

The lead NSIGHT institutions are spearheading the four studies across the country to address three clinical scenarios:

• Diagnostic: using genome sequencing to find the specific genetic causes of congenital anomalies or unexplained illnesses in babies admitted to neonatal intensive care units.
• Preventative: using genome sequencing to screen healthy newborns for preventable or treatable conditions that genetic sequencing could detect or help confirm.
• Predictive: using genome sequencing to explore the entire genome of the child, as a resource for health care throughout the course of the child’s life.