Too much, too soon? Patients and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40

Abstract

Recent research suggests that women who develop breast cancer between the ages of 30-34 may have specific tumour characteristics: Those with high grade, oestrogen receptor negative, human epidermal growth factor receptor 2 (HER-2) negative tumours have between a 10% and 27% chance of being a BRCA1 gene carrier. Carriers of BRCA1 and BRCA2 mutations have an increased risk of contralateral breast cancer and cancer of the ovary. Furthermore, recent research indicates that prophylactic mastectomy and/or oophorectomy offer a significant risk reduction in the development of breast/ovarian cancer. In the near future, women in the UK may be offered the choice of a genetic test close to the time of diagnosis. This timing not only provides additional dimensions to treatment decisions, but has psycho-social and familial implications as well. This exploratory study investigates, first, whether or not women diagnosed with breast cancer under the age of 40 would want to be offered information about genetic testing close to the time of their diagnosis. Then secondly, it explores whether the health care professionals treating them support this idea. Third, it highlights the reasons for the women and the health professionals perspectives and concerns. We held focus groups of 13 women who had their only, or first, breast cancer under the age of 40 and who were subsequently identified as BRCA1 or BRCA2 mutation carriers, asking them how they felt about this timing. We also interviewed 17 health care professionals involved in various aspect of breast cancer care and cancer genetics. The majority of former breast cancer women and professionals believed that there was already emotional overload in coping with the cancer diagnosis and decisions regarding existing cancer treatment options and that offering genetic testing would add too much additional stress. Some members of both groups, however, thought that offering genetic testing around the time of breast cancer diagnosis would be more important if the results could alter treatment decisions.