An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling

Background-The discovery of the breast and ovarian cancer susceptibility ge nes BRCA1 and BRCA2 has improved our ability to counsel women at increased risk of developing breast and ovarian cancer. The objective of our study wa s to identify the needs of women who have undergone genetic counselling and testing for BRCA1/2 and to determine the impact of receiving a positive BR CA1/2 result. This is the first study to report on a large group of women w ho have received positive BRCA1/2 mutation results. Methods-Questionnaires were distributed to 105 women who had received pre- and post-test genetic counselling for a positive BRCA1/2 result at the Univ ersity of Toronto or at McGill University in Montreal, Canada between the y ears of 1994 and 1998. The questionnaire items included patient motivation for seeking genetic services, information needs, screening and prophylactic surgery practices, satisfaction with access to services and support, the d esire for a support group, and overall client satisfaction. Results-Seventy nine female carriers were surveyed. The majority of the res pondents (77%) were satisfied with the information they received during the genetic counselling process. Women with a previous diagnosis of cancer ind icated that they needed more information relating to cancer treatment compa red to women without cancer (p=0.05). Nineteen percent of the women felt th ey needed more support than was received. Fifty eight percent of the women reported that their screening practices had changed since they received the ir result. Young women (below the age of 50) and women with no previous dia gnosis of cancer were most likely to have changed their screening practices . Nearly two thirds of the respondents said they had considered prophylacti c surgery of the breasts or ovaries. Twenty eight percent of the women had prophylactic mastectomy and 54% had undergone prophylactic oophorectomy. Wo men with an educational level of high school or more were more likely to ha ve undergone prophylactic bilateral mastectomy than those with less educati on (p=0.07) but were less likely to undergo prophylactic oophorectomy (p=0. 0007). Conclusion-These findings have a direct impact on the counselling and risk management of female BRCA mutation carriers. Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision makin g after receiving positive genetic test results.