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

Abstract

Background-The discovery of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has improved our ability to counsel women at increased risk of developing breast and ovarian cancer. The objective of our study was 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 BRCA1/2 result. This is the first study to report on a large group of women who have received positive BRCA1/2 mutation results. Methods-Questionnaires were distributed to 105 women who had received preand post-test genetic counselling for a positive BRCA1/2 result at the University of Toronto or at McGill University in Montreal, Canada between the years 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 desire for a support group, and overall client satisfaction. Results-Seventy nine female carriers were surveyed. The majority of the respondents (77%) were satisfied with the information they received during the genetic counselling process. Women with a previous diagnosis of cancer indicated that they needed more information relating to cancer treatment compared to women without cancer (p=0.05). Nineteen percent of the women felt they needed more support than was received. Fifty eight percent of the women reported that their screening practices had changed since they received their result. Young women (below the age of 50) and women with no previous diagnosis of cancer were most likely to have changed their screening practices. Nearly two thirds of the respondents said they had considered prophylactic surgery of the breasts or ovaries. Twenty eight percent of the women had prophylactic mastectomy and 54% had undergone prophylactic oophorectomy. Women with an educational level of high school or more were more likely to have undergone prophylactic bilateral mastectomy than those with less education (p=0.07) but were less likely to undergo prophylactic oophorectomy (p=0.0007). The discovery of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 makes it possible to counsel a subgroup of women at increased risk of developing breast and ovarian cancer. 1 2 These advances prompted the establishment of cancer genetics clinics in North America and western Europe, which provide genetic counselling and molecular testing to at risk subjects. The estimated risk of developing breast cancer associated with a BRCA1 or BRCA2 mutation is 56% to 80% up to the age of 70 and the risk of developing ovarian cancer ranges from 16% to 40% by the age of 70. 3 4 To date, little is known about the impact of genetic testing on women who receive a result indicating that they carry one of the high risk mutations. Areas of interest include surveillance behaviour, information needs, psychological adjustment and distress, and emotional responses. Based on experience from other adult onset ...

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer

“…24 Having difficulties in deciding about, and coping with the impact of, riskreducing surgeries was a common theme, underscoring findings from related studies demonstrating high levels of unmet information needs in this area. 25,26 Before discussing the clinical implications of the findings, the limitations of the study should be mentioned. As with all qualitative studies, statistically valid generalisations cannot be undertaken, nor can causal relationships be established; however, we have also undertaken a quantitative comparison of women with and without a family history, the results of which will be reported separately.…”

Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information

“…21,22 When different coping strategies are used, the informed individual may feel coerced to act on the information and undergo testing. 22,32 Where those who had communicated discovered that family members had felt coerced by them to undergo testing, they reported feeling remorseful. 22 Familial experiences with cancer Experience with breast cancer within a family may also play a role in communication of HBOC risk.…”

Patient compliance based on genetic medicine: a literature review

“…In a study by Metcalfe et al (2000), 58 % of carriers reported that screening behavior increased since receiving a test result, especially in women less than 59 years old and in women with no previous clinical diagnosis of cancer. Lerman et al (2000) surveyed 216 females at risk for breast cancer (84 BRCA1/2 carriers, 83 noncarriers, and 49 test decliners).…”