Genetics & Public Policy Center
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Genetic Testing Quality Initiative

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The State of Genetic Testing

Genetic testing has grown dramatically in the past decade, and is increasingly becoming an integral part of health care. Currently, genetic tests for more than 1000 diseases are clinically available, and several hundred more are under development.

Genetic tests can help diagnose genetic conditions and guide treatment decisions, help predict risk of future disease, inform reproductive decision making, and assist medication choices or dosing. Genetic testing can also lead to profound, life-changing decisions, such as the choice to have children or terminate a pregnancy and the choice to undergo preventive surgery such as mastectomy to avoid developing a genetic disease.

The Public’s Beliefs and Expectations Are Not Being Met

Despite the increasingly central role of genetic testing in health care, a key finding from the Center’s analysis is that the future of genetic testing – both within the reproductive context and more broadly – is on shaky footing. The Center’s assessment of public attitudes shows that the public widely believes that the government regulates genetic tests to ensure their quality and, moreover, that the government should play this role. In fact, however, genetic tests are subject to very little governmental oversight when compared to other health care products. There is no formal approval procedure a laboratory has to go through before offering a new genetic test, and government requirements to ensure that genetic testing laboratories are getting the right answers to patients are minimal. Moreover, there is no government requirement that a test must be clinically valid – i.e., actually relate to a particular disease or risk of disease – in order to be sold.

While many laboratories voluntarily follow additional requirements to ensure quality, there are nevertheless gaps in the regulatory system. From a physician and consumer perspective, there is no "seal of approval" to aid in determining whether the laboratory is performing the test properly or whether the test itself provides information that is relevant to clinical decision-making. Additionally, there is no means to ensure that the ordering physician is sufficiently informed to order the right test and correctly interpret its results. Finally, there is no mechanism to track testing over time to determine whether and to what extent errors in testing are occurring and the consequences of such errors.

The inadequate oversight of the quality and delivery of genetic testing can have significant negative consequences; tests may be offered that are not valid, may be performed incorrectly by incompetent laboratories, and may be explained inaccurately by physicians who are not adequately educated to interpret them. This in turn may lead to unnecessary or harmful treatments being undertaken, missed opportunities for early and effective intervention, and the erosion of public trust in genetic testing. Enhanced oversight to ensure high quality genetic testing laboratories, tests with demonstrated clinical validity, and providers trained to interpret them, would avert these harms. At the same time, however, it is important to recognize that there are risks to enhanced oversight, in the form of delayed access to new tests, higher costs for these tests, and decreased innovation. It is vital to strike the right balance in order to protect the public health.

What Is Needed

Three components are needed to ensure the safety and quality of genetic tests: (1) the laboratories that conduct the tests must have quality control and personnel standards in place to prevent mistakes; (2) the tests themselves must be valid and reliable – that is, detect genes that are actually related to disease or disease risk accurately over time; and (3) health care providers must understand when to order the tests, how to in interpret them, and what to do with the results. Once these mechanisms are in place, uses and outcomes also must be evaluated over time in order to pinpoint any problems that may require attention, particularly as new tests enter wider use.

Center Activities

The Center launched in 2005 a new initiative to improve the overall effectiveness, safety, and reliability of genetic testing, and to develop and promote recommendations where appropriate. To read the news release of the new focus, click here.

Last updated 9/2006