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Are Genetic Tests for Atherosclerosis Ready for Routine Clinical Use?
Nina P Paynter1, Paul M Ridker2, Daniel I Chasman2
1From the Division of Preventive Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA. npaynter@partners.org.
Circulation Research
|February 20, 2016
Summary
Genetic testing shows promise for diagnosing familial hypercholesterolemia and guiding treatment, but its role in cardiovascular risk prediction and pharmacogenetics is still evolving for clinical practice.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Clinical Practice
Background:
- Atherosclerosis management is evolving with genetic insights.
- Genetic information is being evaluated for integration into clinical practice.
- Familial hypercholesterolemia, cardiovascular risk prediction, and pharmacogenetics are key areas of focus.
Purpose of the Study:
- To review the current evaluation of genetic information for clinical application in atherosclerosis.
- To assess the utility of genetic testing in diagnosis, risk prediction, and pharmacogenetics.
- To outline future directions for genetic data in cardiovascular care.
Main Methods:
- Literature review of current research and clinical guidelines.
- Analysis of the evidence supporting genetic testing in specific cardiovascular contexts.
- Evaluation of the potential impact of genetic information on patient care.
Main Results:
- Genetic testing is highly valuable for diagnosing familial hypercholesterolemia and guiding treatment, including use of PCSK9 inhibitors.
- Current evidence does not support incorporating genetic information into standard cardiovascular risk prediction scores.
- Pharmacogenetics offers utility for certain therapies, with future applications dependent on drug development.
Conclusions:
- Genetic testing is poised to expand for familial hypercholesterolemia diagnosis and treatment guidance.
- Further research is needed to validate genetic markers for cardiovascular risk prediction.
- The clinical utility of pharmacogenetics in cardiovascular medicine will depend on future therapeutic advancements.
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