Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.

ABSTRACT: Newborn genomic sequencing (NBSeq) to screen for medically important genetic information is of considerable interest but data characterizing the actionability of such findings, and the downstream medical efforts in response to discovery of unanticipated genetic risk variants, are lacking. From a clinical trial of comprehensive exome sequencing in 127 apparently healthy infants and 32 infants in intensive care, we previously identified 17 infants (10.7%) with unanticipated monogenic disease risks (uMDRs). In this analysis, we assessed actionability for each of these uMDRs with a modified ClinGen actionability semiquantitative metric (CASQM) and created radar plots representing degrees of penetrance of the condition, severity of the condition, effectiveness of intervention, and tolerability

SUBMITTER: Green RC 

PROVIDER: S-EPMC10357495 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature