TY - JOUR
T1 - Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
AU - Murdock, David R.
AU - Venner, Eric
AU - Muzny, Donna M.
AU - Metcalf, Ginger A.
AU - Murugan, Mullai
AU - Hadley, Trevor D.
AU - Chander, Varuna
AU - de Vries, Paul S.
AU - Jia, Xiaoming
AU - Hussain, Aliza
AU - Agha, Ali M.
AU - Sabo, Aniko
AU - Li, Shoudong
AU - Meng, Qingchang
AU - Hu, Jianhong
AU - Tian, Xia
AU - Cohen, Michelle
AU - Yi, Victoria
AU - Kovar, Christie L.
AU - Gingras, Marie Claude
AU - Korchina, Viktoriya
AU - Howard, Chad
AU - Riconda, Daniel L.
AU - Pereira, Stacey
AU - Smith, Hadley S.
AU - Huda, Zohra A.
AU - Buentello, Alexandria
AU - Marino, Patricia R.
AU - Leiber, Lee
AU - Balasubramanyam, Ashok
AU - Amos, Christopher I.
AU - Civitello, Andrew B.
AU - Chelu, Mihail G.
AU - Maag, Ronald
AU - McGuire, Amy L.
AU - Boerwinkle, Eric
AU - Wehrens, Xander H.T.
AU - Ballantyne, Christie M.
AU - Gibbs, Richard A.
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
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U2 - 10.1038/s41436-021-01294-8
DO - 10.1038/s41436-021-01294-8
M3 - Article
C2 - 34363016
AN - SCOPUS:85112633780
SN - 1098-3600
VL - 23
SP - 2404
EP - 2414
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 12
ER -