Breast cancer patients' experiences and outcomes of mainstream genetic testing with and without genetic counseling

As demand for breast cancer germline testing has increased, mainstream genetic testing models of care have been implemented to increase access to genetic testing. This study examined patients' experiences of mainstream genetic testing and compared outcomes between patients seen only by their breast specialist and those who also received genetic counseling.

A mixed methods approach using a survey and qualitative interviews examined decision-making, adaption to result, and family communication. Outcomes were compared by receipt of genetic counseling or not. Qualitative data were analyzed deductively.

Sixty-eight participants completed the survey and 20 were interviewed. Most appreciated the mainstream pathway due to an existing relationship with their cancer specialist and avoidance of extra appointments. There were no differences between those who received genetic counseling compared to those who did not regarding decision regret, cancer risk perception, or adaptation to their genetic test result. Participants who had genetic counseling had higher knowledge scores likely due to the lasting impact of their positive genetic test result.

Patients preferred the mainstream model of care, however, genetic counselor involvement was valued by those who received a pathogenic variant due to receiving counseling about the familial implications of their genetic diagnosis.