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. 2024 May 18:2:101852.
doi: 10.1016/j.gimo.2024.101852. eCollection 2024.

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

Jan T Lowery  1   2   3 , Lisen Axell  3   4 , Lisa Ku  3   4 , Emily B Todd  1   5 , Dave Kao  1   5 , Nick Rafaels  1 , Matt R G Taylor  6 , Elizabeth Kudron  1 , Stephen Wicks  1   7 , Jean Jirikowic  5 , Elise Shalowitz  1 , Kristy R Crooks  1   8
Affiliations

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

Jan T Lowery et al. Genet Med Open. .

Abstract

Purpose: To describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank.

Methods: Enrollment 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.

Results: As 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.

Conclusion: Although 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.

Keywords: Array-based genotyping; Biobank; Multi-Ethnic Genotyping Array(MEGA); Personalized medicine; Sanger sequencing.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Guiding principles for returning secondary findings to biobank participants.
Figure 2
Figure 2
Process for return of results with telephone-based model.
Figure 3
Figure 3
Process for confirmation of results from Multi-Ethnic Genotyping Array.
See this image and copyright information in PMC

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