Regulation of Genetic Tests Overview of Genetic Testing

As the science of genomics advances, genetic testing is becoming more commonplace in the clinic. Yet most genetic tests are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller. The Food and Drug Administration (FDA) has the authority to regulate genetic tests, but it has to date only regulated the relatively small number of genetic tests sold to laboratories as kits. Whereas the Centers for Medicare and Medicaid Services (CMS) does regulate clinical laboratories, it does not examine whether the tests performed are clinically meaningful. Since the 1990s, expert panels and members of Congress have expressed concern about this regulatory gap and the need for FDA to address it. In response, the FDA in 2010 announced plans to expand its regulation to all genetic tests; this expansion has yet to take place. In the interim, FDA continues to regulate test kits, and has begun to regulate genomics tools in clinical research.

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The term "genetic testing" covers an array of techniques including analysis of human DNA, RNA, or protein.Genetic testsare used as a health care tool to detect gene variants associated with a specific disease or condition, as well as for non-clinical uses such as paternity testing and forensics. In the clinical setting, genetic tests can be performed to determine the genetic cause of a disease, confirm a suspected diagnosis, predict future illness, detect when an individual might pass a genetic mutation to his or her children, and predict response to therapy. They are also performed to screen newborns, fetuses, or embryos used in in vitrofertilization for genetic defects.

The first genetic tests were for the detection of chromosomal abnormalities (seekaryotype) and mutations in single genes causing rare, inherited disorders likecystic fibrosis. In recent years, however, the variety of tests has greatly expanded. There are now tests involving complex analyses of a number of genes to, for example, identify one's risk for chronic diseases such as heart disease and cancer, or to quantify a patient's risk of cancer reoccurrence. There are also many tests to predict the effectiveness of therapeutics and guide their administration. Furthermore, NHGRI is pursuing research to enable the clinical use of multi-gene panels, whole exome sequencing (analysis of all a patient's genes), and whole genome sequencing (analysis of a patient's entire genetic code), to detect, for instance, the cause of an undiagnosed disease or a cancerous tumor.

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Three federal agencies play a role in the regulation of genetic tests: CMS, FDA, and the Federal Trade Commission (FTC). CMS is responsible for regulating all clinical laboratories performing genetic testing, ensuring their compliance with the Clinical Laboratory Improvement Amendments of 1988 (CLIA). The objective of CLIA is to certify the clinical testing quality, including verification of the procedures used and the qualifications of the technicians processing the tests. It also comprises proficiency testing for some tests. More details of CLIA are available in this factsheet

The FDA has the broadest authority in terms of regulating the safety and effectiveness of genetic tests as medical devices under the Federal Food, Drug, and Cosmetic Act. Whether FDA regulates a test is determined by how it comes to market. A test may be marketed as a commercial test "kit," a group of reagents used in the processing of genetic samples that are packaged together and sold to multiple labs. More commonly, a test comes to market as a laboratory-developed test (LDT), where the test is developed and performed by a single laboratory, and where specimen samples are sent to that laboratory to be tested. The FDA regulates only tests sold as kits and, to date, has practiced "enforcement discretion" for LDTs.

The degree of FDA oversight of a genetic test is based on its intended use and the risks posed by an inaccurate test result. The FDA categorizes medical devices, including genetic tests, into three separate classes, ranging from class I, for relatively low risk products, to class III, where tests are subject to the greatest level of scrutiny.A complete list of approved human genetic tests is listed here.

FDA oversight also includes pharmacogenomics, which is the use of genomic information to help predict how an individual might respond to a particular drug, to identify individuals who might experience an adverse reaction to taking a drug, or to assist in selecting the optimal dosage of a drug. Part of the FDA's oversight of marketed drugs is to ensure that manufacturers provide information on drug labels about genetic markers that is relevant for drug safety and effectiveness. A list of approved pharmacogenomic drugs is available here.

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Regulation of Genetic Tests

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