| Autor: |
Jan T. Lowery, Lisen Axell, Lisa Ku, Emily B. Todd, Dave Kao, Nick Rafaels, Matt R.G. Taylor, Elizabeth Kudron, Stephen Wicks, Jean Jirikowic, Elise Shalowitz, Kristy R. Crooks |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Genetics in Medicine Open, Vol 2, Iss , Pp 101852- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2949-7744 |
| DOI: |
10.1016/j.gimo.2024.101852 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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