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Assessing Genetic Risks: Implications for Health and Social Policy
and laboratory personnel who have a financial interest in a laboratory providing genetic tests.
This committee also agrees that pilot studies should precede routine testing, and it would emphasize the principle that pilot studies must have prespecified objectives, clear methods, defined end points, and outside evaluation. In the years since the 1975 report, this principle has not always been followed rigorously. In newborn screening, for example, ''pilot studies" imperceptibly became part of routine testing (Holtzman, 1991). Even though pilot studies cannot replicate all aspects of the situation that would ensue if screening were to become routine, pilot programs can be very useful in helping to establish a standard of care. This is especially true as genetic screening becomes incorporated into routine medical practice, which the committee believes will happen increasingly. Medical followup will also become far less of a problem than it has been in past screening programs (organized on a state public health or community-wide basis), except for people without a regular source of medical care (see Chapter 7). However, ensuring adequate patient education and genetic counseling will pose new challenges (see Chapter 4).
Auspices and Settings
The sponsorship of state and local government is essential to provide guidance, facilities, and follow-up. The 1975 study suggested that states or other communities institute commissions with authority to recommend new tests and programs, to monitor those in place, and to ensure standards for education, counseling, follow-up, treatment, and test procedures, thereby mitigating public concern about the many ethical issues that arise.
(summarized from NAS, 1975)
It is in this area that the situation is changing greatly from the time of the earlier recommendations. As already indicated, neither state nor federal government is likely to organize screening, although state health agencies may require private physicians to offer such tests (e.g., the MSAFP screening program in California), and state insurance laws may ensure that charges for genetic tests are reimbursed. But today the concern is no longer that of ensuring that new genetic screening tests will be done, but rather that pretest education and counseling, the offering of tests, their performance, and the counseling and medical interventions that follow positive test results, will be done appropriately. As testing technology becomes more simplified, walk-in testing (e.g., at shopping malls), mail-order kits, and home test kits become real possibilities; because of the importance of