The BabySeq Project
August 22, 2023 | Terry Sharrer
“An analysis from the BabySeq Project, which trialed newborn sequencing in apparently healthy and unwell babies, found 17 infants with potentially pathogenic monogenic genetic findings that were all moderately or highly actionable. . . . In three of the infants, the genetic findings prompted the discovery of a subclinical phenotype that hadn’t previously been picked up. In the rest of the group, the genetic findings were pathogenic or likely pathogenic mutations in the genes: TTN, BRCA2, G6PD, SLC7A9, KCNQ4, CD46, VCL, MYBPC3, MSH2, and CYP21A2, increasing the future risk of diseases such as cancer or cardiovascular conditions, among others.” MORE
Image Credit: Genomes2People