Researchers and physicians from across the country have formed a new consortium dubbed NSIGHT (Newborn Sequencing in Genomic Medicine and Public Health) to explore the implications, challenges, and opportunities associated with the possible use of genomic sequence information of newborns. Initial work from the NSIGHT consortium was published recently in Pediatrics through an eponymously titled article “Newborn Sequencing in Genomic Medicine and Public Health.”
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?
NSIGHT was developed to address these questions. Moreover, the consortium will look to 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?” asked lead study investigator Jonathan Berg, M.D., Ph.D., associate professor of genetics at the UNC School of Medicine. “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.”
A classic example is Huntington's disease. Is it the right of the parent to know that their child harbors the genetic lesion that underpins this terrible disease, even though manifestations are unlikely to develop until adulthood? What about an untreatable neurodegenerative disease that will present during childhood? What if early intervention might help, but the disease might not present until the child is an adult?
“Technology is forcing this decision-making process on us,” Dr. Berg noted. The cost of genome sequencing has plummeted in recent years, meaning the national public health system and the broader medical community need to figure out how to address these kinds of issues, and soon. Through the NIH-funded NSIGHT consortium, researchers and doctors are laying the groundwork.
Lead NSIGHT institutions are spearheading 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.
Currently, NSIGHT members are consulting with parents and soon-to-be parents to learn about their concerns and their personal decision-making processes regarding genome sequencing for various purposes, including finding health information that could be clinically useful immediately.
“We're learning when the best time is to approach parents,” Dr. Berg stated. “Clearly, immediately after birth we can't just say to a new mom and dad, 'we'd like to talk to you for a few hours about your thoughts on sequencing your child's entire genome.' We're learning what kinds of decision aids and other resources parents need, such as genetic counseling. We're wrestling with how to implement this in practice when we already have a shortage of genetic counselors in the United States. We can't have every single couple sit down with a genetic counselor, but we could have them go through an online decision aid.”
“The bottom line is this,” Dr. Berg concluded. “We hope that the information we get from these studies will help us make recommendations for how to best roll out some form of newborn genomic screening in the future.”