The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer

The present study investigated: (1) perception of genetic risk and, (2) the psychological effects of genetic counselling in women with a family histor y of breast cancer. Using a prospective design, with assessment pre- and po st-genetic counselling at clinics and by postal follow-up at 1, 6 and 12 mo nths, attenders at four South London genetic clinics were assessed. Partici pants included 282 women with a family history of breast cancer. Outcome wa s measured in terms of mental hearth, cancer-specific distress and risk per ception. High revels of cancer-specific distress were found pre-genetic cou nselling, with 28% of participants reporting that they worried about breast cancer 'frequently or constantly' and 18% that worry about breast cancer w as 'a severe or definite problem'. Following genetic counselling, revels of cancer-specific distress were unchanged. General mental health remained un changed over time (33% psychiatric cases detected pre-genetic counselling, 27% at 12 months after genetic counselling). Prior to their genetics consultation, participants showed poor knowledge of their lifetime risk of breast cancer since there was no association betwee n their perceived lifetime risk (when they were asked to express this as a 1 in x odds ratio) and their actual risk, when the latter was calculated by the geneticist at the clinic using the CASH model. In contrast, women were more accurate about their risk of breast cancer pre-genetic counselling wh en this was assessed in broad categorical terms (i.e. very much lower/very much higher than the average woman) with a significant association between this rating and the subsequently calculated CASH risk figure (P = 0.001), G enetic counselling produced a modest shift in the accuracy of perceived lif etime risk, expressed as an odds ratio, which was maintained at 12 months' follow-up. A significant minority failed to benefit from genetic counsellin g; 77 women continued to over-estimate their risk and maintain high levels of cancer-related worry. Most clinic attenders were inaccurate in their estimates of the population risk of breast cancer with only 24% able to give the correct figure prior t o genetic counselling and 36% over-estimating this risk. There was some imp rovement following genetic counselling with 62% able to give the correct fi gure, but this information was poorly retained and this figure had dropped to 34% by the 1-year follow-up. The study showed that women attending for g enetic counselling are worried about breast cancer, with 34% indicating tha t they had initiated the referral to the genetic clinic themselves. This an xiety is not alleviated by genetic counselling, although women reported tha t it was less of a problem at follow-up. Women who continue to over-estimat e their risk and worry about breast cancer are likely to go on seeking unne cessary screening if they are not reassured.