Impact of predictive genetic testing for BRCA 1/2 in a clinical cohort: three years on

Background: this prospective multi-centre UK study assesses the impact of predictive genetic testing for breast/ovarian cancer predisposition genes (BRCA1 and BRCA2) in a UK clinical cohort. Methods: assessments at baseline (pre-genetic testing) and up to three years following the test result. Participants were recruited from nine UK clinical genetics centres between 1997 and 2000. Outcome Measures: self-reported uptake of risk management options, general mental health, cancer related concern and problems with insurance. 193/285 (70 per cent response rate) participants completed both baseline and threeyear follow-up assessments. Findings: in the three years post-testing male and female gene carriers engaged in more risk management activities than non-carriers. Female carriers reported high rates of risk reducing surgery; 43 per cent underwent oophorectomy and 34 per cent mastectomy. Eighty-nine per cent of female carriers had mammograms compared with 47 per cent of non-carriers. Twenty-two per cent of male carriers had colorectal screening and 44 per cent prostate screening compared with five per cent and 19 per cent of non-carriers respectively. Seven per cent of gene carriers and 0.8 per cent of non-carriers were diagnosed with cancer. Carriers and non-carriers did not differ in levels of generalised or cancer specific distress. Forty per cent of female gene carriers reported difficulties with insurance. Discussion: the results clarify issues that arise following predictive genetic testing as part of routine clinical practice. Carrier status appears to have no longer term negative impact on mental health. However, there is a need to clarify risk management among female non-carriers and reasons for insurance difficulties. Experiences of individuals tested for BRCA1/2 are clearly of relevance to health psychology.