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Precision Cardiovascular Medicine: State of Genetic Testing
John R Giudicessi1, Iftikhar J Kullo2, Michael J Ackerman3
1Department of Internal Medicine, Internal Medicine Residency Program, Clinician-Investigator Training Program, Mayo Clinic, Rochester, MN.
Mayo Clinic Proceedings
|April 8, 2017
Summary
Genomic medicine advances cardiovascular care, but challenges remain in implementing genetic testing for complex heart diseases. This review guides genetic testing and discusses current cardiovascular genetic and pharmacogenomic applications.
Area of Science:
- Cardiovascular Medicine
- Genomics
- Precision Medicine
Background:
- Human genome sequencing has exponentially increased understanding of genetic variation in cardiovascular disease (CVD).
- Genomics offers promise for precision medicine in cardiovascular care, attracting clinical and research interest.
- Implementing genomics in CVD management faces challenges due to complex diseases and unfamiliarity with genomic terminology.
Purpose of the Study:
- To provide a practical approach to initiating and interpreting genetic testing for cardiovascular disorders.
- To review the current landscape of cardiovascular genetic and pharmacogenomic testing.
- To contextualize testing within existing professional and regulatory guidelines.
Main Methods:
- Review of scientific literature on cardiovascular genomics and pharmacogenomics.
- Analysis of current society and regulatory agency recommendations.
- Synthesis of practical guidance for genetic test interpretation and application.
Main Results:
- Significant advancements in understanding genetic determinants of CVD susceptibility, prognosis, and treatment response.
- Growing attention to genomics for personalized cardiovascular care.
- Persistent challenges in translating genomic knowledge into routine clinical practice for complex CVDs.
Conclusions:
- Genetic and pharmacogenomic testing are increasingly relevant for individualizing cardiovascular disease management.
- A practical framework for genetic testing is crucial for clinical adoption.
- Adherence to guidelines is essential for the effective implementation of genomic medicine in cardiology.
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