Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing for women recently diagnosed with breast cancer

摘要

Purpose: Women with breast cancer, who are found to be BRCA1/2 mutation carriers, have a high risk of ovarian cancer and metachronous breast cancer. Treatment-focused genetic testing (TFGT), offered around the time of diagnosis, allows genetic test results to inform surgical treatment decisions. However, concern has been raised that offering TFGT at this time may overly increase psychological burden. This study aimed to qualitatively explore women’s attitudes and experiences of TFGT. Methods: Women who had been diagnosed with breast cancer at age 50 years or less, undertook a semi-structured telephone interview (n=26). The sample included women who had been offered TFGT, based on family history and/or other risk criteria (n=14), and women who had been diagnosed within the past 6-12 months, and had not been offered TFGT (n=12). Interviews explored women’s attitudes towards TFGT, perceived benefits and disadvantages, implications of TFGT, and impact on surgical decision-making. Interviews were transcribed verbatim and thematically analyzed. Results: Women expressed positive attitudes towards TFGT and felt it was highly relevant to their surgical decision-making. They did not feel that an offer of TFGT shortly after, or at the time of diagnosis, added undue psychological burden. The majority of women interviewed felt that TFGT should be incorporated into standard clinical care.Conclusions: TFGT is viewed favourably by women newly diagnosed with breast cancer who perceive the advantages of TFGT to outweigh the disadvantages. Future randomised controlled trials are needed to examine the long term impact of TFGT. We conclude that an offer of TFGT is not ‘too much, too soon’.