Navigating Uncertain Outcomes: Returning Genomic Results in Children with Developmental Delays
Aline Barbosa Negreiros, Marcia G. Ory
Abstract
Massively parallel sequencing methods, including whole exome sequencing (WES) and whole genome sequencing (WGS), can uncover unsolicited findings (UFs) that are unrelated to the primary diagnostic objective. These methods are commonly applied in pediatric cases of developmental delay (DD). However, current guidelines for informed consent and the return of UFs are not fully equipped to address the unique ethical challenges that arise in these cases. Previous empirical research by our group indica
Topics & Concepts
Exome sequencingWhole genome sequencingGenomic sequencingInformed consentExomeDNA sequencingMedicineMassive parallel sequencingGenomicsPsychologyComputer scienceParental consentMEDLINEGenetic testingComputational biologyEmpirical researchGenomeHuman geneticsBiologyGeneticsGenetic diagnosisGenomics and Rare DiseasesPrenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities