genetic disease tests, quality control for test performance itself currently is not monitored by any federal or state agency.

The Clinical Laboratory Improvement Amendments (CLIA) were passed by Congress in 1988 to establish “quality standards for all laboratory testing to ensure the accuracy, reliability and timeliness of patient tests.” The Centers for Medicare and Medicaid Services regulates all laboratory testing (except research testing) performed on humans in the United States through CLIA regulations, but CLIA’s mandate extends only to examining the physical conditions and quality control procedures of the laboratory and not to the actual performance of tests (although proficiency testing is required for many standard tests).

If the genetic test involves using a commercially available kit, FDA regulates the kit as a device and must approve the manufacturer’s claims regarding the composition and performance of the kit before it can be marketed. If the test is considered a “home brew,” no matter how complicated, to date neither FDA nor CLIA has opted to regulate its performance and accuracy.

In order for academic and commercial laboratories to be able to deliver an HD test result to an individual, the laboratory must be CLIA certified. As noted above, this does not mean that CLIA certifies the accuracy of specific test results, only that the laboratories in which the tests are conducted meet CLIA requirements. Many laboratories, most particularly academic laboratories that are not CLIA certified, conduct the HD test for research purposes only and these test results cannot, by law, be given to individuals, nor should they be entered into the medical record.

Gene Patents and Diagnostics

Currently, more than 1,000 genetic diseases can be diagnosed through available tests. Although some of the associated genes are free of patents, most are not. The cases of the BRCA, CD, and HD genes represent the range of situations that might apply to such genes. In a number of instances, as with HD patents, the patent holder does not enforce patent claims to prohibit testing. In some other instances, patent holders offer nonexclusive licenses for reasonable fees, making the patented tests generally available. (Following litigation, this is now the case with the CD patent.). Some gene patents, however, have been licensed exclusively, and licensees (or the original patent holders, such as Myriad) either enforce their patent rights to prevent others from performing genetic testing, or present prohibitively expensive terms under which others may perform genetic testing. Anecdotally, there are instances in which hospital laboratories performing tests on genes covered by patents have continued to offer the test until subjected to very strong pressure from the patent holder or exclusive licensee. In numerous other cases, however, hospitals have stopped offering these tests or have decided against developing genetic tests due to fear of litigation (Henry et al., 2002; Merz and Cho, 1998). (Also see further discussion in Chapter 3.)



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