With the expansion of genetic testing, concern about its reliability and validity is greater today than it was in 1975. There are several reasons. First, the proliferation of laboratories and new tests may outpace the establishment of criteria for judging quality and even for deciding when the validity of the test warrants its use clinically. Second, defining what constitutes reasonable specificity and sensitivity is difficult and can be decided only when evidence is available on the performance characteristics of the tests under consideration, and criteria are likely to vary with different types of tests depending on the ratio of benefits to risks. Third, this proliferation of testing sites makes it more difficult to reach all sites with external quality assessment programs, and increases the chance of errors in testing. Fourth, greater concerns surround genetic testing performed to provide reproductive options, given the potential consequences of errors.
Like the earlier committee, we view high laboratory quality and demonstrated safety, quality control, and effectiveness of tests as critical principles with which there can be no compromises. Federal legislation is already in place both for assessing the characteristics of new tests before they are marketed and for assessing the quality of laboratories that are providing clinical services. However, these are not being fully applied to genetic testing. Although centralization of testing facilities could help to maintain standards of testing, that centralization may not be possible as long as companies compete with each other, and in some instances with academic centers, for the testing business. However, centralization is important and attainable for tests for rare disorders, which are less lucrative financially (see Chapter 3).
The proliferation of tests and extension of testing into commercial laboratories have led to new issues in conflicts of interests. A key new issue is the potential for conflict of interest on the part of those who are in a position to recommend tests. Such individuals, including geneticists and primary care physicians, may have a business or financial interest in laboratories or companies that provide testing and/or hold patents on genes from which royalties are generated through the testing process. The committee believes that all such holdings should be publicly disclosed and strongly discouraged. The American Medical Association recently voted overwhelmingly that it is unethical in most cases for a physician to send a patient for tests to a clinic owned by the physician (AMA, 1992). The committee believes that the same disclosure requirement should apply to genetics