The Testing Process

Requests for testing can arise from a variety of circumstances and for a number of reasons. For example, although genetic test results can be used to guide individual healthcare and reproductive decisions, genetic testing often is sought to fulfill familial, domestic, or vocational responsibilities (Burgess and d'Agincourt-Canning). For this reason healthcare professionals must be adept at presenting and discussing the potential ramifications of testing in light of the at-risk individual's reason for requesting testing. Genetics practice also calls for pretest and posttest counseling and formal informed consent procedures to ensure that people deciding whether to undergo genetic testing are informed about the risks and potential harms, benefits, and limitations of the test, as well as alternatives and treatment options (National Advisory Council for Human Genome Research; Holtzman and Watson).

At the beginning of the twenty-first century, the volume of genetic testing was not great and the vast majority of testing occurred in genetic centers or in consultation with highly trained geneticists and genetics counselors. As the number of tests increases, the demand for testing may outstrip the capacity of genetics-trained individuals to respond. This scenario suggests that it is likely that more and more testing decisions will be made by physicians with little formal training or experience in genetics. Some question the ability of physicians to perform this function and continue to recommend referrals to health professionals with specific training in genetics to ensure proper counseling, informed consent, and correct interpretation of test results (Giardello et al.).

A related issue is the fear that physicians will be more likely to take a directive approach to decisions about testing. This approach is antithetical to the concept of the value-neutral nondirective counseling that is a main tenet of all genetic counseling. Historically, this commitment to nondirective counseling can be understood as a moral stance designed to disassociate modern genetics from the eugenics movements of the first half of the twentieth century, which often advocated forced sterilization for individuals deemed to be genetically abnormal (Paul).

Philosophically, nondirective counseling also reflects the centrality of respect for autonomy (the right to self-determination or self-governance) in modern bioethics. Because decisions about genetic testing often involve reproduction and/or an individual's most personal desires and fears, the genetics community has adopted the view that the role of the genetics professional is to help an individual make a decision about testing that is consistent with that person's most strongly held values. Genetic counselors in training are taught specifically not to let their own opinions and attitudes influence the information that is given to people or recommendations for a course of action.

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