New Genetic Recommendation on Cardiovascular Disease Released by the EGAPP™ Working Group

This month the independent Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group has released a new evidence-based recommendation on the use of “cardiogenomic profiles” (or “heart health”), which is a type of genetic test. 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.

What do cardiogenomic profiles look for?
This type of test attempts to predict genetic risk for cardiovascular disease, and looks for genetic variants that may be associated with an increased risk of cardiovascular disease.

The EGAPP Working Group evaluated commercially-available cardiogenomic profiles for analytic validity, clinical validity, and clinical utility. They did not find 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, or more specifically, having a heart attack or stroke. The EGAPP Working Group currently discourages 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.

• 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.

The EGAPP Working Group recommendations address the need for reliable, objective information on genetic and genomic tests for chronic diseases that are a major burden in the U.S. population. Health care providers, public health practitioners, policy makers, and consumers can use this information to make more informed decisions about the appropriate use of these tests in clinical and public health practice.

EGAPP Initiative
CDC’s Office of Public Health Genomics (OPHG) launched the in 2004 to establish and test a systematic, evidence-based process for evaluating genetic tests and other applications of genomic technology that are in transition from research to clinical and public health practice. Read frequently asked questions about EGAPP.