choose not to reproduce or to selectively abort affected fetuses, and their decisions will coincide with public health objectives. The weighing of risks and harms is complicated since general benefits to society from reducing the societal burden of disease may compete with the particular harms to the individual of losing autonomy and self-determination in areas as deeply personal and defining as genetics and reproduction. As a society, we have decided that such a health trade-off is socially acceptable for certain infectious diseases that pose an imminent threat to health, often to large numbers of people. However, as a society, we have also reached a consensus that such a trade-off is not appropriate for genetic disorders; thus, most compulsory sterilization laws enacted earlier in the twentieth century were subsequently repealed (Andrews, 1987).
Principles of informed consent in the provision of genetic testing services, whether experimental or routine, include (1) fair explanation of the procedures to be followed and their purposes, including identification of any that are experimental; (2) description of risks and benefits to be reasonably expected, including the risks and benefits of future treatment; (3) disclosure of appropriate alternative procedures that might be advantageous to the participant; (4) information on what future decisions participants might be asked to make, including the possibility of abortion; (5) offer to answer inquiries; (6) instruction that the participant may refuse the test; and (7) documentation of the consent (see further discussion in Chapter 8).
In theory, informed consent has been accepted as an essential component of the doctor-patient relationship, but in general medical practice, physicians frequently fail to communicate elements essential for informed participation by patients (Wu and Pearlman, 1992). Few health care providers have been trained in the psychosocial skills needed to work effectively with patients in the informed consent process (Johnson et al., 1992), which may be associated with a historical reluctance by practicing physicians to factor patients' goals and values into decisions regarding their health care (Hollander, 1992).
In 1975, the National Academy of Sciences emphasized the need for obtaining consent by pointing to the nature of the hazards that have been experienced in genetic screening programs, including stigmatization, loss of employment or insurance, and family discord (NAS, 1975). In addition, the 1975 committee stressed that persons being screened or tested should be made fully aware of the limitations of the particular test, such as the risk of false positive or false negative findings and what can be done to minimize that risk. These concerns will become especially relevant as more tests are offered that have lowered sensitivity or specificity, such as those for non-Mendelian multifactorial diseases. The Alliance of Genetic Support Groups (1993) worked with a variety of professional and consumer organizations to develop informed consent guidelines for research involving genetic testing; these have now been released by the Alliance.2 This joint