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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 presentation ( n  = 3); reports requiring corrections ( n  = 2); mosaicism requiring alternative DNA samples for confirmation ( n  = 3); and variant re-interpretation due to updated informatics pipelines ( n  = 6). Participant contact related challenges ( n  = 44), affecting 38 participants, included nonresponders ( n  = 20), decedents ( n  = 1), and previously known results ( n  = 23). These results should be helpful to investigators preparing for return of results in large-scale genomic sequencing projects.

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