Ontology highlight
ABSTRACT: Importance
A critical bottleneck in clinical genomics is the mismatch between large volumes of results and the availability of knowledgeable professionals to return them.Objective
To test whether a web-based platform is noninferior to a genetic counselor for educating patients about their carrier results from exome sequencing.Design, setting, and participants
A randomized noninferiority trial conducted in a longitudinal sequencing cohort at the National Institutes of Health from February 5, 2014, to December 16, 2016, was used to compare the web-based platform with a genetic counselor. Among the 571 eligible participants, 1 to 7 heterozygous variants were identified in genes that cause a phenotype that is recessively inherited. Surveys were administered after cohort
SUBMITTER: Biesecker BB
PROVIDER: S-EPMC5885925 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature