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Agency for Healthcare Research Quality

Agency News and Notes

AHRQ report indicates that gene-based tests need better monitoring

A new report on genetic testing from the Agency for Healthcare Research and Quality (AHRQ) calls for the creation of improved public health surveillance databases and health information technologies to monitor the use of gene-based tests and their impact on patient outcomes. Funded by the Centers for Disease Control and Prevention, the report, titled Infrastructure to Monitor Utilization and Outcomes of Gene-based Applications: An Assessment, found current public health monitoring systems lack the capability to monitor the use or outcomes of gene-based tests and treatments.

Report authors identified several limitations of existing databases and potential solutions to overcome these limitations. Researchers agreed that the development of gene-based tests is outpacing the evaluation of their accuracy and clinical utility. Gene-based tests may, in some cases, help make early diagnosis of a disease, improve risk prediction, and target therapies for both traditional gene-based disorders as well as common chronic diseases. However, since all tests and treatments are not expected to have the same amount of benefit, experts said it is important to distinguish beneficial tests and treatments from those that have little or no benefit or that may even harm the public.

Many gene-based tests are only recommended for people with certain risk factors. For example, the U.S. Preventive Services Task Force (Task Force) recommends primary care physicians should refer only high-risk women for genetic counseling and testing to detect gene mutations associated with breast or ovarian cancers. The Task Force recommends that women who do not have a family history of either breast or ovarian cancer and are unlikely to test positive for the mutations should not be referred for testing, as there are potential harms involved in genetic testing, including false-positive test results. Also, the Task Force recommends against routine genetic screening in the general population for hereditary hemochromatosis, a genetic disease that causes the body to absorb and store too much iron.

Better monitoring capabilities would help identify which gene-based tests improve patient outcomes and are cost-effective, researchers found. By 2009, the world market for gene-based testing is expected to reach $12.5 billion. More than 1,000 gene-based tests are now available to consumers via their clinicians, and many more are expected to become available in the near future. Some of these tests are marketed directly to consumers.

The Federal Trade Commission has issued a consumer alert on at-home genetic testing and urges consumers to be skeptical of claims made by companies that are marketing these tests directly to consumers.

AHRQ recommends patients consult with their clinicians to evaluate their risk factors and determine their need for genetic testing. The report is available online at

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