Integrating clinical genetics in cardiology: Current practices and recommendations for education

Courtney L. Scherr*, Kerstin Kalke, Sanjana Ramesh, Hoda Fakhari, Lisa M. Dellefave-Castillo, Maureen E. Smith, Callie Kalny, Elizabeth M. McNally, Laura J. Rasmussen-Torvik

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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 languageEnglish (US)
Pages (from-to)1054-1061
Number of pages8
JournalGenetics in Medicine
Issue number5
StatePublished - May 2022


  • Cardiology
  • Clinical practice
  • Genetics

ASJC Scopus subject areas

  • Genetics(clinical)


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