Abstract
Purpose: Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing. Methods: Qualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts. Results: Participants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts’ importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result. Conclusion: Participants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1054-1061 |
| Number of pages | 8 |
| Journal | Genetics in Medicine |
| Volume | 24 |
| Issue number | 5 |
| DOIs | |
| State | Published - May 2022 |
Funding
This project was funded, in part, by the American Heart Association Cardiac Death Strategically Focused Research Network (grants 19SFRN32830054 and 19SFRN34850101 ), a Strategically Focused Research Network grant from the American Heart Association, United States . Research Electronic Data Capture is supported at Feinberg School of Medicine by the Northwestern University Clinical and Translational Science Institute. Research reported in this publication was supported, in part, by the National Institutes of Health’s National Center for Advancing Translational Sciences , grant number UL1TR001422 . The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Courtney L. Scherr, Laura J. Rasmussen-Torvik, Maureen E. Smith, Lisa M. Dellefave-Castillo, and Elizabeth M. McNally’s work has been funded by the American Heart Association and the National Institutes of Health. The funders played no role in the design of the study or in interpretation of findings. Courtney L. Scherr, Maureen E. Smith, and Laura J. Rasmussen-Torvik have received compensation from National Institutes of Health grant review panels. Maureen E. Smith has received compensation from the Journal of Genetic Counseling as a section editor and funding from Geisinger Heath System as a grant consultant. Sanjana Ramesh is a consultant for the digital health startup, Renalis, and owns stock in the company. Elizabeth M. McNally has consulted for AstraZeneca, Avidity Biosciences, Amgen Inc, Cytokinetics, 4D Molecular Therapeutics, Janssen, Pfizer Inc, PepGen Inc, Stealth BioTherapeutics Inc, Tenaya, and Invitae Corporation and is the founder of Ikaika Therapeutics, LLC. All the aforementioned activities are unrelated to the content of this manuscript. Kerstin Kalke and Hoda Fakhari declare no conflicts of interest. This project was funded, in part, by the American Heart Association Cardiac Death Strategically Focused Research Network (grants 19SFRN32830054 and 19SFRN34850101), a Strategically Focused Research Network grant from the American Heart Association, United States. Research Electronic Data Capture is supported at Feinberg School of Medicine by the Northwestern University Clinical and Translational Science Institute. Research reported in this publication was supported, in part, by the National Institutes of Health's National Center for Advancing Translational Sciences, grant number UL1TR001422. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. C.L.S.: Conceptualization, Formal Analysis, Investigation, Methodology, Project Administration, Resources, Supervision, Writing-original draft, Writing-review and editing, K.K.: Data Curation, Formal Analysis, Project Administration, Investigation, Writing-original draft, Writing-review and editing, S.R.: Investigation, Writing-original draft, Writing-review and editing, H.F.: Formal Analysis, Writing-review and editing, L.M.D.-C.: Conceptualization, Resources, Writing-review and editing, M.E.S.: Conceptualization, Resources, Writing-review and editing, E.M.M.: Resources, Writing-review and editing, L.J.R.-T.: Conceptualization, Resources, Writing-review and editing, This study received approval from the Northwestern University Institutional Review Board (STU00210365). All participants provided electronic informed consent before completing the demographic survey and interview. Transcripts from the interviews were de-identified before the analysis, but initials of the institution were retained when mentioned for accuracy of interpretation. This study was conducted in accordance with the Helsinki Declaration.
Keywords
- Cardiology
- Clinical practice
- Genetics
ASJC Scopus subject areas
- Genetics(clinical)