Robert GreenGENOMES2PEOPLEWith a goal of eventually enrolling 480 infants from two Boston-area hospitals—half from well baby nurseries and half from neonatal intensive care units (NICUs)—the researchers behind the BabySeq Project have begun to analyze the first sequenced exomes. BabySeq is the first randomized clinical trial studying the effects of at-birth genome sequencing on children and their families. Parents who consent to have their babies’ genomes sequenced also agree to 18 years of follow-up study.
Enrollment has been a challenge, Robert Green of Brigham and Women’s Hospital reported October 19 at the American Society of Human Genetics (ASHG) meeting, held in Vancouver this week. Only around 7 percent of families the researchers approached have agreed to participate. Families who have declined to participate have cited logistical and privacy issues, among other concerns.
To date, Green explained at ASHG, the team has only reported to participating families pathogenic or likely pathogenic variants that show strong evidence of associations with childhood-onset diseases—with one exception. The researchers found a breast and ovarian cancer–associated BRCA2 variant in the exome of a baby boy enrolled in the NICU arm of the study. They brought this finding to their institutional review board (IRB), which agreed that ...
