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

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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
Genetics in Medicine ( IF 6.6 ) Pub Date : 2021-08-06 , DOI: 10.1038/s41436-021-01294-8
David R Murdock ₁ , Eric Venner ₁ , Donna M Muzny ₁ , Ginger A Metcalf ₁ , Mullai Murugan ₁ , Trevor D Hadley ₂ , Varuna Chander ₁ , Paul S de Vries ₃ , Xiaoming Jia ₂ , Aliza Hussain ₂ , Ali M Agha ₂ , Aniko Sabo ₁ , Shoudong Li ₁ , Qingchang Meng ₁ , Jianhong Hu ₁ , Xia Tian ₁ , Michelle Cohen ₁ , Victoria Yi ₁ , Christie L Kovar ₁ , Marie-Claude Gingras ₁ , Viktoriya Korchina ₁ , Chad Howard ₄ , Daniel L Riconda ₅ , Stacey Pereira ₆ , Hadley S Smith ₆ , Zohra A Huda ₂ , Alexandria Buentello ₂ , Patricia R Marino ₂ , Lee Leiber ₄ , Ashok Balasubramanyam ₇ , Christopher I Amos ₈ , Andrew B Civitello ₂ , Mihail G Chelu _{2,

9} , Ronald Maag ₂ , Amy L McGuire ₆ , Eric Boerwinkle _{1,

3} , Xander H T Wehrens _{2,

9,

10} , Christie M Ballantyne ₂ , Richard A Gibbs ₁

Affiliation

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Department of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.
Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, The University of Texas Health Science Center at Houston, Houston, USA.
Information Technology, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, TX, USA.
Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.

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.

中文翻译：

门诊心脏病诊所的基因检测显示具有临床管理意义的高发现率

目的

心血管疾病 (CVD) 是美国成年人死亡的主要原因，但基因检测的好处并未被普遍接受。

方法

我们开发了与 CVD 相关的基因“HeartCare”面板，评估高外显率孟德尔疾病、冠状动脉疾病 (CAD) 多基因风险、LPA基因多态性和特定药物遗传学 (PGx) 变异。我们招募了来自贝勒医学院心脏病学诊所的 709 名患者，并在 CAP/CLIA 认证的实验室对样本进行了分析。结果返回给开药医生并上传到电子病历。

结果

值得注意的是，即使在排除 PGx 结果后，32% 的患者的基因发现也具有临床管理意义，其中 9% 的患者被分子诊断为孟德尔疾病。在接受调查的医生中，84% 的医生报告了基于这些结果的医疗管理变化，包括专家转诊、心脏检查和药物变化。LPA多态性和 CAD 的高多基因风险分别在 20% 和 9% 的患者中发现，导致饮食、生活方式和其他变化。大约一半的队列中存在华法林和辛伐他汀药物遗传学变体。