Missed therapeutic and prevention opportunities in women with BRCA‐mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature

Abstract

Answer questions and earn CME/CNE Fifteen percent of women with epithelial ovarian cancer have inherited mutations in the BRCA breast cancer susceptibility genes. Knowledge of her BRCA status has value both for the woman and for her family. A therapeutic benefit exists for the woman with cancer, because a new family of oral drugs, the poly ADP-ribose polymerase (PARP) inhibitors, has recently been approved, and these drugs have the greatest efficacy in women who carry the mutation. For her family, there is the potential to prevent ovarian cancer in those carrying the mutation by using risk-reducing surgery. Such surgery significantly reduces the chance of developing this, for the most part, incurable cancer. Despite these potential benefits, referral rates for genetic counseling and subsequent BRCA testing are low, ranging from 10% to 30%, indicating that these therapeutic and prevention opportunities are being missed. The authors have reviewed the relevant available literature. Topics discussed are BRCA and its relation to ovarian cancer, the rates of referral for genetic counseling/BRCA testing, reasons for these low rates, potential strategies to improve on those rates, lack of effectiveness of current screening strategies, the pros and cons of risk-reducing surgery, other prevention options, and the role and value of PARP inhibitors. CA Cancer J Clin 2017;67:493-506. © 2017 American Cancer Society.

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

“…There is limited awareness of BRCA testing among clinicians/practitioners and the population per se. Low referral rates for genetic counselling and subsequent BRCA testing have been reported by others too, which further highlights the missed therapeutic and prevention opportunities 44. Understanding reasons for differences observed is important and requires further research.…”

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

“…National criteria for hereditary breast and ovarian cancer genetic testing do not exist in Canada and each province follows their own formal or informal criteria (see online supplementary file 1). A recent review article by BRCA TtoT members identified process issues, geographic access and lack of physician knowledge as major barriers to genetic testing 26. Current under-referral practices prevent opportunities for personalised treatment of ovarian cancer as well as cancer risk reduction in at-risk relatives.…”

Surgical treatment of young women with breast cancer: Public vs private hospitals

“…31,32 Since stage at presentation can determine surgical management and overall survival, it is crucial to address factors that contribute to women presenting at advanced stages. 33 Interestingly, in our study, only 21 36 There is a hardship program that provides free genetic counseling to those without insurance at BH, yet the process to obtain testing may take several weeks, and results are not often available prior to surgery.…”

“…It should also be noted that only 60% of patients at both institutions underwent genetic testing. This could be due to personal preference, health literacy gaps, or lack of insurance coverage . There is a hardship program that provides free genetic counseling to those without insurance at BH, yet the process to obtain testing may take several weeks, and results are not often available prior to surgery.…”