Deciphering Cardiovascular Genomics and How They Apply to Cardiovascular Disease Prevention

  • Sumeet A. Khetarpal
  • Kiran Musunuru
Part of the Contemporary Cardiology book series (CONCARD)


Genomics, or the study of genomes, is concerned with understanding how the deoxyribonucleic acid (DNA) of which genomes are constituted contributes to making an organism unique. Accordingly, human genomics focuses on how DNA sequences produce individuals’ traits, e.g., skin color and cholesterol levels, and contribute to diseases, e.g., myocardial infarction and diabetes mellitus. The last decade has witnessed a remarkable leap forward in the use of genomics technology to understand human traits and diseases, to the point that new discoveries regarding what makes each person unique are being widely reported in the press and advertised by companies to the lay public. Although currently the clinical utility of genomics is limited, there are high expectations that it will become increasingly employed in practice in the near future. Discussions with patients of the implications of genomics – whether it is in the form of genetic testing for disease risk, pharmacogenomics, or personalized medicine – will be unavoidable for primary care providers. This chapter seeks to (1) explain the basic biology underlying genomics technology; (2) describe the current and potential future uses of genomics to improve patient care, particularly in cardiovascular medicine; and (3) set realistic expectations for the utility of genomics and explore the ethical implications of the technology.


Genome-wide association studies Genomics Pharmacogenomics Polymorphism Risk prediction Whole-exome sequencing 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Sumeet A. Khetarpal
    • 1
  • Kiran Musunuru
    • 1
  1. 1.Departments of Medicine and Genetics, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA

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