Rapid genetic counseling and testing in newly diagnosed breast cancer Surgical and psychosocial implications

Genetic counseling and testing for breast cancer have traditionally been offered to eligible patients after completion of their primary treatment. Women with hereditary breast cancer, caused by a germline mutation in the BRCA1 or BRCA2 gene, have an increased risk of contralateral breast cancer and may opt for additional risk-reducing surgery. Rapid genetic counseling and testing (RGCT) shortly after breast cancer diagnosis can provide information about the possible hereditary nature of the cancer before the start of primary treatment.
This thesis describes the results of a randomized clinical trial on the impact of offering RGCT to newly diagnosed breast cancer patients. Women in the intervention group were offered RGCT; women in the control group were offered usual care. Patients who were offered RGCT and received their DNA test results before primary surgery were more likely to undergo a bilateral mastectomy than women who were offered usual care (22% versus 9%). Up to 12 months after diagnosis, we did not observe any significant differences over time between the two groups on psychosocial measures such as anxiety, depression or health-related quality of life. The majority of professionals (71%) agreed that RGCT should be offered routinely to high risk women. Together, these results support the feasibility, potential benefit, and limited psychosocial risks associated with RGCT.