Psychosocial research in the context of cancer genetic testing helps to define psychological outcomes, interpersonal and familial effects, and cultural and community responses. It also identifies behavioral factors that encourage or impede screening and other health behaviors. It can enhance decision-making about risk-reduction interventions, evaluate psychosocial interventions to reduce distress and/or other negative sequelae related to risk notification and genetic testing, provide data to help resolve ethical concerns, and predict the interest in testing of various groups.
Research in these areas is limited by few randomized controlled trials, and many reports are based on uncontrolled studies of selected high-risk populations. Research is likely to expand considerably with access to larger populations of at-risk individuals.
There have been a number of descriptions of cancer genetics programs that provide genetic susceptibility testing.[1,2,3,4,5,6,7,8,9] The development of such programs was encouraged by federal funding of multidisciplinary research programs that offered intensive genetic counseling for hereditary cancer syndromes, psychological assessment and back-up, and physician involvement.
Interest in and Uptake of Genetic Testing
Decisions about whether to pursue breast cancer genetic testing involve complex biologic, behavioral, and social elements. There are vast differences in interest in and actual uptake rates of testing reported in the literature. In a systematic review of 40 peer-reviewed primary clinical studies published between 1990 and May 2002, it was reported that sampling frame and other methodological variables contributed to the wide variability. On average, interest in genetic testing was 66% (range 20%–96%), while actual uptake of genetic testing was 59% (range, 25%–96%) (odds ratio [OR], 1.27; 95% confidence interval [CI], 1.16–1.39). In multivariate analysis, personal and family history of cancer, study recruitment and setting were all associated with testing uptake. A more recent study also found that having a personal history of breast cancer and having at least some college education predicted uptake of BRCA testing. Researchers in Ontario, Canada, surveyed 416 women diagnosed with epithelial ovarian cancer or fallopian tube cancer between 2002 and 2004. Although genetic testing is freely available in Canada to women diagnosed with ovarian cancer or fallopian tube cancer, only 80 of 416 women surveyed (19%) had undergone clinical genetic testing. The researchers concluded that uptake of genetic testing may rise with increased public awareness directed at both physicians and patients. In a study of over 1,500 family members from 60 kindreds with a 25% or higher risk of carrying the family mutation, attendance at a family informational session doubled rates of mutation testing compared to non-attendees (75% vs. 34%). Those who opted for mutation testing included persons who had previously provided a blood sample for research genetic testing and persons who had not previously donated a blood sample.