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Assessing Genetic Risks: Implications for Health and Social Policy
able. In the rare instance where parents would be considered negligent for refusing an indicated test, established legal procedures should be used to obtain necessary parental authorization.
Newborn screening programs should include provision for counseling of all parents who are informed that the child is affected with a genetic disorder, including those for whom the diagnosis in the child proves to be false in later testing.
Since some existing programs may not have been subject to careful evaluation, the committee recommends that ongoing programs be reviewed periodically, preferably by a body independent of the program or laboratory performing the testing, such as a broadly representative state commission or advisory council (see Chapter 9). The evaluation should include technical issues such as the sensitivity and specificity of the tests, quality control procedures, and evidence that early detection actually improves outcome. Furthermore, once tests are instituted, newborn screening laboratories should have strict standards for quality control and proficiency testing (see Chapter 3 for further discussion). Detailed statutory requirements for specific tests may be unduly inflexible; the committee recommends that the states would be better served by an advisory mechanism that is authorized to add, eliminate, or modify existing programs, and to provide guidance for standards.
The committee recommends that stored newborn blood spots should be made available for additional research only if identifiers have been removed; as with other research involving human subjects, such research proposals should be reviewed by an appropriate institutional review board. If identifiable information is to be disclosed beyond the immediate purpose of an approved service program, informed consent of the infant's parent or guardian should be obtained prior to use of the specimen (see Chapter 8 for further discussion).
Carrier Testing and Screening
Determination of carrier status involves decisions concerning significant reproductive issues (i.e., abortion, medically assisted conception, adoption, sterilization, etc.). There was consensus among committee members that pregnancy is not the preferred time for carrier screening because reproductive options are limited. Because of the significant anxiety that may be raised by learning of carrier status for the first time during pregnancy, testing to determine carrier status before pregnancy is optimal. Carrier testing and screening must be voluntary and must be preceded by education and counseling. High standards of explicit informed consent must be met, with attention to ensuring that a couple is told, in easily understood terms, the medical and social choices available to them should one or both of them be determined to be carriers. Some members of the committee realized that much of carrier screening would be pushed back into pregnancy because of inertia, lack of education, and the difficult logistics of