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Working Group: Topics




Completed Topics


Topic: Use of Genomic Profiling to Assess Risk for Cardiovascular Disease and Identify Individualized Prevention Strategies

EGAPP Recommendation: View Working Group Recommendation external link 

Additional Evidence Article: View Association between 9p21 genomic markers and heart disease: a meta-analysis external link and complete article pending

Evidence Report: Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies-A targeted evidence-based review external link

Supplementary Evidence Report:: N/A

Other products: Pending


Key Questions:


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


  • 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. 


Links to organizations are provided solely as a service to our users. These links do not constitute an endorsement of these organizations or their programs by EGAPP, and none should be inferred. EGAPP is not responsible for the content of the individual organization Web pages found at these links.



Page last updated: May 15, 2013
Page last reviewed: May 15, 2013
Content Source: OPHG Staff