Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications

David R. Murdock, Eric Venner, Donna M. Muzny, Ginger A. Metcalf, Mullai Murugan, Trevor D. Hadley, Varuna Chander, Paul S. de Vries, Xiaoming Jia, Aliza Hussain, Ali M. Agha, Aniko Sabo, Shoudong Li, Qingchang Meng, Jianhong Hu, Xia Tian, Michelle Cohen, Victoria Yi, Christie L. Kovar, Marie Claude GingrasViktoriya Korchina, Chad Howard, Daniel L. Riconda, Stacey Pereira, Hadley S. Smith, Zohra A. Huda, Alexandria Buentello, Patricia R. Marino, Lee Leiber, Ashok Balasubramanyam, Christopher I. Amos, Andrew B. Civitello, Mihail G. Chelu, Ronald Maag, Amy L. McGuire, Eric Boerwinkle, Xander H.T. Wehrens, Christie M. Ballantyne, Richard A. Gibbs

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: Cardiovascular disease (CVD) is the leading cause of death in adults in the United States, yet the benefits of genetic testing are not universally accepted. Methods: We developed the “HeartCare” panel of genes associated with CVD, evaluating high-penetrance Mendelian conditions, coronary artery disease (CAD) polygenic risk, LPA gene polymorphisms, and specific pharmacogenetic (PGx) variants. We enrolled 709 individuals from cardiology clinics at Baylor College of Medicine, and samples were analyzed in a CAP/CLIA-certified laboratory. Results were returned to the ordering physician and uploaded to the electronic medical record. Results: Notably, 32% of patients had a genetic finding with clinical management implications, even after excluding PGx results, including 9% who were molecularly diagnosed with a Mendelian condition. Among surveyed physicians, 84% reported medical management changes based on these results, including specialist referrals, cardiac tests, and medication changes. LPA polymorphisms and high polygenic risk of CAD were found in 20% and 9% of patients, respectively, leading to diet, lifestyle, and other changes. Warfarin and simvastatin pharmacogenetic variants were present in roughly half of the cohort. Conclusion: Our results support the use of genetic information in routine cardiovascular health management and provide a roadmap for accompanying research.

Original languageEnglish (US)
JournalGenetics in Medicine
DOIs
StateAccepted/In press - 2021

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

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