Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth

Abstract

PurposeTo describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank. MethodsEnrollment in the biobank is open to all adult UCHealth patients. Participants who provided a sample that was genotyped and signed the proper consent were eligible to receive results. Genetic data were generated using a custom genotyping array and confirmed via Sanger sequencing. We used 2 models for returning results and conducted interviews with participants to assess satisfaction with our process, follow-up care, and family communication. ResultsAs of July 2022, 73,313 participants had provided a sample and proper consent. Of these, 10,489 samples were genotyped, 137 (1.3%) had initial results, and 62 were confirmed and eligible for return. We returned results to 51 participants, 33% for cardiac risk, 31% cancer, 15% familial hypercholesterolemia, and 21% for other conditions (11 participants refused or did not respond). Less than half of participants had a relevant family history. The majority of participants were glad to receive results and satisfied with our process. ConclusionAlthough array-based genotyping has known limitations that reduce its accuracy, we were able to identify persons with underlying genetic risk who were previously unaware. It is important to establish a process for returning results that follows clinical guidelines, protects participant autonomy, and is amenable to all participants.