Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

ABSTRACT: Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to be addressed for its broader and effective application. The BabySeq Project is a pilot randomized clinical trial that explores the medical, behavioral, and economic impacts of nGS in well newborns and those admitted to a neonatal intensive care unit (NICU). Here we present childhood-onset and actionable adult-onset disease risk, carrier status, and pharmacogenomics findings from nGS of 159 newborns in the BabySeq Project. nGS revealed a risk of childhood-onset disease in 15/159 (9.4%) newborns; none of the disease risks were anticipated based on the infants' known clinical or family histories. nGS also revealed actionable

SUBMITTER: Ceyhan-Birsoy O 

PROVIDER: S-EPMC6323417 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature