Within the first 24 to 48 hours of life, a few drops of blood are taken from every baby born in Massachusetts to test for rare health conditions that need early treatment.
According to Robert C. Green, a professor at Harvard Medical School, there are several thousand treatable rare conditions that are not currently screened for.
This moment is when Green imagines a comprehensive approach like the BabySeq Project can step in.
BabySeq is an experimental research study that seeks to understand the medical, behavioral, and economic impact of sequencing newborns, the goal being to decode newborns’ genes to scan for potentially life-threatening and genetic diseases.
Newborn health screening “saves the babies’ lives,” Green says. “It’s a public health triumph, but it relies on a very elaborate system for approvals and funding. And we don’t think that system, as it’s currently configured, is going to be flexible enough and nimble enough to keep up with a torrent of rare disease therapies that are being developed.”
Green and Alan H. Beggs, director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital, began the study in 2015 with 325 infants born in Boston’s academic hospitals.
The research team then followed each of the families to understand what they did with the information, how results identifying potential disease risks impacted their decision-making, and how much their follow-up visits cost the hospital. But they weren’t sure they would receive a grant to delve further and study how parents felt after receiving these results.
“It is a very controversial topic,” Green says. “It’s not a topic, even everyone at NIH or anyone who reviews NIH grants is enthusiastic about. Many people feel that it’s too soon or inappropriate or dangerous.”
This past July, the team had a breakthrough. BabySeq — now led by Green and Ingrid A. Holm, professor of pediatrics at Harvard Medical School — received a grant to expand the study to include three locations: Boston, Birmingham, Ala., and New York City. The researchers also plan to recruit more underrepresented minorities who’ve historically been excluded in such research initiatives.
“Part of the rationale against genomic testing has been that certain findings are not actionable,” Green says. He explains that historically the prevailing narrative has assumed sequencing results will cause distress and that results are “not actionable, and all you can do is worry about them.”
When the team investigated this claim, Green says that they saw that the “degree of the distress is simply far less than was anticipated.” There were no persistent negative psychosocial effects on families who received sequencing, even when that sequencing brought potentially bad news.
Despite supportive clinical studies, Kurt D. Christensen, a co-investigator for the study, and his team’s findings come with limitations.
“It’s too short a time period to understand if we’ve done any benefit or harm here,” Christensen admitted. For conditions like cardiomyopathy, long-term impacts can range from preventive procedures to simply being a burden on the wallet due to years of surveillance.
Additionally, expanding screening to the entire population rather than simply families with known histories of genetic diseases raises an entirely new set of questions. As Green mentioned, the current healthcare infrastructure is likely insufficient to handle information from such extensive screening.
BabySeq also runs into ethical issues that have always surrounded the idea of newborn screening. On top of potential partner and self-blame upon receiving negative results, the ability to precisely measure a human’s fitness opens the door to “genetic discrimination” from employers. As a result, the FDA has always taken a conservative approach to authorizing genetic services. “Everybody wondered when they would come down and who they would come down on,” Christensen said. Their research group has scaled back on the aggressiveness of their genetic screening protocols, changing their sequencing methods to faster ones that would not get entangled in the grueling FDA approval processes.
Green recognizes that some parents may find the results of the sequencing upsetting, but he feels the benefits can outweigh the perceived distress, especially since BabySeq identifies disease risk earlier in life than other gene testing projects.
Despite the structural and moral hurdles, newborn genome screening continues to be a rapidly evolving field where projects like BabySeq hold the potential to transform our collective thinking about the benefits of sequencing our babies.
— Staff writer Akila V. Muthukumar can be reached at firstname.lastname@example.org. Follow her on Twitter @akila29m.