Federal Neglect: Regulation of Genetic Testing; Government Needs to Ensure That Genetic Tests Provide Useful Medical Information and That the Test Results Are Reliable
Javitt, Gail H., Hudson, Kathy, Issues in Science and Technology
U.S. consumers generally take for granted that the government assesses the safety and effectiveness of drugs and other medical products before they are made available commercially. But for genetic tests, this generally is not the case. At the same time, the number and type of genetic tests continue to increase, and tests for more than 900 genetic diseases are now available clinically. Genetic testing is playing a growing role in health care delivery and is providing information that can be the basis for profound life decisions, such as whether to undergo prophylactic mastectomy, terminate a pregnancy, or take a particular drug or dosage of a drug. Current gaps in the oversight of genetic tests, and of the laboratories that offer them, thus represent a real threat to public health.
Currently, the government exercises only limited oversight of the analytic validity of genetic tests (whether they accurately identify a particular mutation) and virtually no oversight of the clinical validity of genetic tests (whether they provide information relevant to health and disease in a patient). To the extent that oversight exists, it is distributed among several agencies, with little interagency coordination. As a result, no clear regulatory mechanism exists to guide the transition of tests from research to clinical practice, or to ensure that tests offered to patients are analytically or clinically valid. In order to protect consumers, and to help advance the potential benefits offered by genetic testing, government action is urgently needed.
Most genetic tests are not sold as stand-alone products but as services by clinical laboratories. Clinical laboratories are regulated under the Clinical Laboratory Improvement Act (CLIA), as amended in 1988. CLIA was enacted to strengthen federal oversight of clinical laboratories and to ensure accurate and reliable test results after Congress found widespread poor quality of laboratory services.
CLIA, which is administered by the Centers for Medicare & Medicaid Services (CMS), imposes basic requirements that address personnel qualifications, quality-control standards, and documentation and validation of tests and procedures. For most "high-complexity" tests, meaning those that require a high degree of skill to perform or interpret, CLIA requires periodic "proficiency testing," in which the laboratory must demonstrate its ability to accurately perform the test and interpret the results. Genetic tests are high-complexity tests, but CMS has not created a genetic testing "specialty" for molecular and biological tests, and therefore specific proficiency testing for these genetics tests is not mandated under CLIA. This means that laboratories must determine their proficiency for themselves. Some labs do so by using proficiency-testing programs established by professional organizations; however, the use of these programs is not required under CLIA, and these organizations provide proficiency-testing programs for only a small subset of genetic
As early as 1995, the National Institutes of Health (NIH) and the Department of Energy jointly convened a government task force to review genetic testing in the United States and make recommendations to ensure the development of safe and effective genetic tests. Since that time, government advisory bodies have urged CMS to strengthen CLIA oversight for genetic tests by, among other things, establishing a specialty area for genetic testing. However, although the government announced in 2000 that it would establish a genetics specialty area, no standards have yet been issued.
Test kits and home brews
A genetic test can be performed using either a "test kit" or a "home brew." Test kits, as their name implies, contain the reagents needed to perform the test, instructions on test performance, and information regarding what mutations are detected. Kit manufacturers sell these tests to laboratories, which use them to perform the tests. …