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Assessing Genetic Risks: Implications for Health and Social Policy
birth defects; it is concerned about the offering of prenatal diagnosis for trivial reasons. The committee is particularly concerned about the use of prenatal diagnosis for sex selection. It is concerned that—with increasing entrepreneurial pressures in prenatal diagnosis—the use of prenatal diagnosis for selection of fetal sex may become more widespread in the future. The committee believes this issue warrants careful scrutiny over the next three to five years as the availability of genetic testing becomes more widespread, and especially as simpler, safer technologies for prenatal diagnosis are developed (see Chapter 2).
ACOG, ASHG, CORN, and NSGC have issued a variety of policy statements about aspects of prenatal diagnosis. However, the committee believes that issues in genetic testing have moved beyond the domain of professional groups alone. While existing standards may have been adequate for the past, new standards will be needed in the future, particularly to respond to rapid developments in genetic testing methods that are now experimental, such as the use of fetal cells isolated from maternal blood, triple-marker screening, and preimplantation diagnosis. Reproductive genetic decisions raise some of the most deeply personal and troubling issues in genetic testing. The committee recommends that professional groups work together, and develop innovative methods for involving the public, in the development of standards for the use of these technologies.
Predispositional Genetic Testing and Screening
There is at the present time an important "window of opportunity" now to consider all the ramifications of predispositional genetic testing before such testing becomes widespread. For common disorders, the committee believes that tests for predisposition will vary in predictive value both among tests and among disorders; and that the disorders will vary in treatability, thereby affecting the utility of the information to be gained even from highly predictive tests. Genetic testing for very common, high-profile disorders such as heart disease, diabetes mellitus, and cancers will be subject to entrepreneurial pressure to expand testing once such tests are available; this, in turn, may have substantial potential for harm to individuals and families, at least in terms of insurability and employability.
The committee recommends the development of standards for genetic tests designed to detect predispositions to disorders of late onset. Strict guidelines for efficacy will be necessary to prevent the premature introduction of this technology. The development of such standards would be an appropriate early task for the National Advisory Committee on Genetic Testing with a Working Group on Genetic Testing.
The committee believes that population screening for late-onset monogenic diseases should be considered only for treatable or preventable conditions of relatively high frequency. Under such guidelines, population screening should be offered only after appropriate, reliable, sensitive, and specific tests become available. Such tests do not yet exist. Once appropriate tests become avail-