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Prior to the completion of the human genome project and establishment of the phrase “personalized medicine”, physicians and scientists forecasted the transformative impact of human genetics upon the understanding and treatment of human disease. Within the field of cardiovascular medicine, the current application of clinical genetic testing is generally limited to inherited arrhythmias, cardiomyopathies, occasional pharmacogenomic profiling for anticoagulation and antiplatelet therapies, and rarely to establish syndromic diagnoses. Even among informed practitioners on the wards and in the clinics, the skeptics among us observe that the rapid proliferation of genome wide association studies (GWAS) which characterize the contribution of common genetic variation to common diseases contrasts sharply with their infrequent application to everyday clinical practice. Some cardiologists may argue that advances in genetic basis of cardiovascular disease do not inform us any more than a family history.1 The authors of the study published in this issue of Heart have endeavored to bridge the divide between our growing knowledge of cardiovascular genomics and the application of genetics to routine clinical practice.2
In a cohort of 460 individuals for whom the first presentation of coronary artery disease was acute coronary syndrome, Labos et al. …
Competing interests EAA is a founder of Personalis Inc., which offers clinical genetic testing.
Provenance and peer review Commissioned; internally peer reviewed.
- Cardiac risk factors and prevention