Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.

ABSTRACT: To inform the process of returning results in genome sequencing studies, we conducted a quantitative and qualitative assessment of challenges encountered during the Return of Actionable Variants Empiric (RAVE) study conducted at Mayo Clinic. Participants (n = 2535, mean age 63 ± 7, 57% female) were sequenced for 68 clinically actionable genes and 14 single nucleotide variants. Of 122 actionable results detected, 118 were returnable; results were returned by a genetic counselor-86 in-person and 12 by phone. Challenges in returning actionable results were encountered in a significant proportion (38%) of the cohort and were related to sequencing and participant contact. Sequencing related challenges (n = 14), affecting 13 participants, included reports revised based on clinical

SUBMITTER: Kochan DC 

PROVIDER: S-EPMC7198538 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature