Genetic testing: psychological aspects and implications.

As the number of genes associated with inherited disease continues to grow, researchers and practitioners in behavioral medicine will encounter complex psychological issues faced by individuals at risk for these diseases. A review of the literature concerning prenatal, carrier, and predictive genetic testing suggests that the severity of psychological risks posed by research-based genetic testing is not great. However, subgroups of individuals with particular psychological traits may be more vulnerable to adverse effects. Available data do not provide evidence that genetic testing promotes changes in health-related behaviors. Thus, although there may be less of a role for mental health professionals in the psychological counseling of genetic testing participants, there is a need for research and practice to facilitate health protective behaviors in response to genetic risk information. The number of inherited disorders and risk factors that can be detected through genetic testing is increasing rapidly, and genetic testing may soon become a common component of routine medical care. Is behavioral medicine ready? For the first time, a sophisticated understanding of gene-environment interactions as manifested in the interactions among an individual’s genetic predispositions, behavior, and environment seems within reach. Rather than diminishing the role of behavioral science, advances in molecular medicine highlight the centrality of behavior both in disease etiology and in the translation of science into practice. The subset of psychological issues and processes that are most salient within the clinical genetics context has evolved alongside advances in biotechnology. Prenatal testing and carrier testing were among the first services offered, affording an opportunity for individuals to learn whether they had transmitted an altered gene to their offspring. As these tests provided information about the risk to the fetus, the focus of counseling tended to be on reproductive decision making. More recently, genetic testing is being applied to detect personal susceptibility to disease, shifting the focus of counseling to personal risk reduction. The hope is that awareness of genetic risk will enhance informed medical decision making by physicians and patients alike. However, there may also be psychological and social risks of genetic testing that should be considered, regardless of the potential medical benefits provided by testing. It is in this consideration of the entire breadth of the potential costs and benefits that psychologists can play a critical role. Both researchers and clinicians can assist patients, families, physicians, and policymakers as they grapple with the complex task of integrating genetic information into their professional practice and everyday lives. In this article, we review the behavioral science literature concerning genetic testing in the following three primary domains: prenatal testing, carrier testing, and predictive testing. Although it is impossible to provide an exhaustive review of this vast literature, several studies are described to illustrate issues of relevance to the field of clinical psychology. The greatest attention has been devoted to predictive testing, because this research area is the most active and has generated a relatively greater number of controlled quantitative studies. Within each domain, we consider the following questions, based on available data: (a) What factors have been shown to influence whether a person decides to have a genetic test? (b) What are the psychological and behavioral outcomes of genetic testing? (c) What interventions have been used to enhance the outcomes of testing? The final section of the article considers emerging themes, future research needs, and the implications for training and practice.