Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.

ABSTRACT: The increasing availability of exome sequencing to the general ("healthy") population raises questions about the implications of genomic testing for individuals without suspected Mendelian diseases. Little is known about this population's motivations for undergoing exome sequencing, their expectations, reactions, and perceptions of utility. In order to address these questions, we conducted in-depth semi-structured interviews with 12 participants recruited from a longitudinal multi-omics profiling study that included exome sequencing. Participants were interviewed after receiving exome results, which included Mendelian disease-associated pathogenic and likely pathogenic variants, pharmacogenetic variants, and risk assessments for multifactorial diseases such as type 2 diabetes. The primary

SUBMITTER: Rego S 

PROVIDER: S-EPMC6456364 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature