NIH R01 · 2024
Utility of Genomic Sequencing in Community Care Contexts
PROJECT SUMMARY/ABSTRACT Efforts to translate genomic sequencing technologies into clinical care have faced ongoing challenges defining and measuring utility. Evaluation of utility (and disutility) is particularly difficult in the context of efforts to translate genomic sequencing technologies like exome sequencing (ES) and genome sequencing (GS) to the diagnosis of children with undiagnosed genetic conditions, since these conditions are rarely responsive to pharmacological interventions and parents often express a wide variety of reasons for wanting a genomic diagnosis for their child. We hypothesize that previous efforts to identify the effects (positive, negative, and neutral) of ES and…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.