Use of Genomic Profiling to Assess Risk for Cardiovascular Disease (CVD) and Identify Individualized Prevention Strategies

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.


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 (listed in Table 1 of article) 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.”

EGAPP Recommendation (December 2010)

Evidence Report (December 2010)

Additional Evidence Article (February 2010) 

CDC Summary of EGAPP Recommendation (October 2011)

Key Questions:

  • Question 1 (Overarching Question): Does the use of ‘cardiogenomic profiling’ lead to improved outcomes for the patient/consumer, or is it useful in medical or personal decision making?

  • Question 2: What is known about the analytic validity of tests that identify variations in genes associated with ‘heart’ or cardiovascular health, including the analytic sensitivity and specificity, assay robustness (e.g., failure rates, resistance to changes in variables such as sample quality), and other factors?

  • Question 3: What is the clinical validity of cardiogenomic profiles, including clinical sensitivity and specificity and positive and negative predictive value?

  • Question 3a: What is the strength of association of cardiovascular health outcomes with the presence of specific gene variants (e.g., odds ratios)?

  • Question 3b: How well does this testing alone predict specific cardiovascular outcomes (e.g., MI, stroke)?

  • Question 3c: How well does this testing in combination with other CVD testing (e.g., cholesterol) predict specific cardiovascular outcomes?

  • Question 3d: Do other factors (e.g., race/ethnicity, family history, smoking, diet, exercise level, other conditions) affect the clinical validity of the testing?

  • Question 4: What are the issues relating to the use of cardiogenomic profiles in the designated populations and what is the impact on patient/consumer outcomes?

  • Question 4a: What are the management options for patients/consumers based on cardiogenomic profile results in a medical model vs. a DTC model, and how would they differ from routine health messages?

  • Question 4b: How could the results of cardiogenomic profiling in the general population impact health behaviors or inform decision-making by patients and their healthcare providers that affect outcomes?

  • Question 4c: In what ways could the use of cardiogenomic profiling in the designated populations impact clinical outcomes (e.g., morbidity / mortality)

  • Question 4d: What is known about other contextual issues, such as cost-effectiveness, likelihood of behavioral change, and family history considerations?

Why EGAPP Selected this Topic for Review:

Key Criteria: Prevalence and severity of CVD; testing is offered through both clinical and direct-to-consumer models, each with unique considerations.

Other Considerations: Estimating risk of CVD based on variants in multiple genes, individually and in combination, challenges risk assessment and EGAPP evidence review methods.