‘We Arguably Saved Their Lives’: Newborn DNA-Sequencing Reveals Elevated Cancer Risks for Parents

June 5, 2023

(STAT News) – In a study published Monday in the American Journal of Human Genetics, researchers from Mass General Brigham and Boston Children’s Hospital reported that of the first 159 infants to undergo screening through genomic sequencing, 17 were discovered to have unanticipated mutations in disease-associated genes.

Over the next three to five years, in the majority of the 17 infants’ families, these discoveries prompted parents and other relatives to get additional testing that led to uncovering the cause of diseases running through their family trees. In three cases, mothers who learned they carried a gene that drastically elevated their risks of certain cancers chose to undergo prophylactic surgeries to reduce those risks — a finding that the lead researcher says undercuts ethical objections to informing families of genetic findings even when they aren’t immediately actionable for the newborn. (Read More)