BabySeq Project researchers reported that genomic sequencing could find even healthy newborns who are at risk of developing childhood-onset conditions.
The projects are organized by the Eliminate Cancer Initiative, the National Brain Tumor Society, and the Pediatric Brain Tumor Foundation.
Two thirds of families who attended enrollment sessions signed up, but those who did not voiced concerns about privacy, discrimination, and return of results.
The SCN3A gene, which encodes a voltage-gate sodium channel in the brain, also controls oral motor development, including swallowing, tongue movement, and speech.
Under a collaboration with GeneDx, Boston Children's has rapidly sequenced the exomes of 20 NICU babies and have arrived at a likely diagnosis in around 85 percent.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests.
Research teams documented mosaic mutations during brain development, as well as rising somatic mutations in aging brains or brains affected by neurodegenerative disease.
The project has identified carrier variants in 109 infants so far — a total of 232 variants in 166 genes — according to a presentation at ASHG today.
The one-year partnership will focus on identifying patients with abnormal pain conditions and validating the genetic findings as potential targets for drugs.
The World Health Organization has announced the members of its gene-editing committee, according to NPR.
DARPA is working on developing algorithms that gauge the credibility of research findings, Wired reports.
The American Society of Breast Surgeons recommends all women diagnosed with breast cancer be offered genetic testing, the Washington Post says.
In Science this week: comparison of modern, historical rabbit exomes uncovers parallel evolution after myxoma virus exposure; and more.