Cardiogenomic Profiles to Predict Risk of Developing Cardiovascular Disease
Cardiogenomic profiles (or “heart health” profiles) are a type of genetic test. These tests attempt to predict risk for cardiovascular disease, and look for genetic variants that may be associated with an increased risk of disease. These tests are being marketed to physicians and the general public as a way to find out a person’s risk of developing cardiovascular disease. Some of these tests can be ordered online and without the involvement of a physician.
Cardiogenomic profiles are being proposed as a means of determining people’s risk for developing cardiovascular disease, or more specifically, having a heart attack or stroke. The EGAPP™ Working Group evaluated available scientific evidence on commercially-available cardiogenomic profiles to see whether this genetic testing is valid and useful for this purpose.
EGAPP™ Recommendation Statement
“The Evaluation of Genomic Applications in Practice and Prevention Working Group (EWG) found insufficient evidence to recommend testing for the 9p21 genetic variant or 57 other variants in 28 genes to assess risk for cardiovascular disease (CVD) in the general population, specifically heart disease and stroke. The EWG found that the magnitude of net health benefit from use of any of these tests alone or in combination is negligible. The EWG discourages clinical use unless further evidence supports improved clinical outcomes. Based on the available evidence, the overall certainty of net health benefit is deemed “Low.””
Summary of Findings on Cardiogenomic Profiles
In 2010, the independent Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group determined that there was not enough evidence to indicate whether cardiogenomic profiles should or should not be used in the general population to determine people’s risk for developing cardiovascular disease. The EGAPP Working Group discouraged the use of these profiles except in research settings. There was no definite demonstration that the tests were useful for medical or personal decision-making.
The EGAPP recommendation statement was based on the following key points:
- Using genomic markers in combination with traditional risk factors was not found to lead to improved outcomes for the treatment of cardiovascular disease.
- Health improvements could theoretically be made with preventive medical or behavior changes (such as screening, change of diet, increase of exercise, weight loss, and smoking cessation), but none of the evidence showed health improvements as a direct result of using these tests.
- Further development and evaluation of these technologies and evidence that supports added value in predicting clinical outcomes from these tests is needed.
The new recommendation is based on a systematic evidence review funded by the Centers for Disease Control and Prevention (CDC). The recommendation and review are published in the December 2010 issue of Genetics in Medicine. Links to these and other CDC-funded evidence reports used by the EGAPP Working Group are available on the EGAPP Working Group Web site.
- Heart Disease Risk Factors, CDC
- Recommendations from the EGAPP Working Group: Genomic profiling to assess cardiovascular risk to improve cardiovascular health, Genetics in Medicine, December 2010
- Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies – A targeted evidence-based review, Genetics in Medicine, December 2010
- Use of Genomic Profiling to Assess Risk for Cardiovascular Disease and Identify Individualized Prevention Strategies, EGAPP
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