The effect of referral for genetic counseling on genetic testing and surgical prevention in women at high risk for ovarian cancer: Results from a randomized controlled trial

Abstract

Background Guidelines recommend genetic counseling and testing for women with a pedigree suggestive of an inherited susceptibility for ovarian cancer. We evaluated the effect of referral to genetic counseling on genetic testing and prophylactic oophorectomy via a randomized controlled trial. Methods Data from an electronic mammography reporting system identified 12,919 women with a pedigree including breast cancer, of whom 625 were identified as high risk for inherited susceptibility to ovarian cancer using a risk assessment questionnaire. Of these, 458 women provided informed consent and were randomized 1:1 to intervention consisting of a genetic counseling referral (n=228) or standard clinical care (n=230). Results Participants were predominantly aged 45 to 65; 30% and 20% reported a personal history of breast cancer or a family history of ovarian cancer, respectively. Eighty-five percent of women in the intervention group participated in a genetic counseling session. Genetic testing was reported by 74 (33%) and 20 (9%) women in the intervention and control arms (p<0.005) respectively. Five women in the intervention arm and two women in the control arm were identified as germline mutation carriers. Ten women in the intervention arm and three women in the control arm underwent prophylactic BSO (p<0.05). Conclusion Routine referral of women at high risk for ovarian cancer to genetic counseling promotes genetic testing and prophylactic surgery. Our findings from a randomized controlled trial demonstrate the value of implementing strategies targeting women at high risk for ovarian cancer to ensure they are offered access to recommended care.

Exploring Predictors of Genetic Counseling and Testing for Hereditary Breast and Ovarian Cancer: Findings from the 2015 U.S. National Health Interview Survey

“…Genetic counseling referrals and genetic testing rates are low even among individuals with cancer diagnoses. Indeed, half or fewer of the breast cancer and ovarian cancer patients have received genetic counseling or testing [18,19,20,21], and many have never discussed genetic testing with their provider [22].…”

Competing Risks for a Diagnosis of Invasive Breast Cancer

“…1 Although we do not have data to directly assess this issue, we believe that our findings are robust; this is an average-risk cohort, and very few women are likely to have received these interventions. [2][3][4][5] This view is supported by 4 observations. First, Pocobelli et al 3 assessed a cohort of 18 390 women, including a subcohort from our analysis, who were 35 years or older and reported a personal or family history consistent with an inherited susceptibility to breast and/or ovarian cancer between 2004 and 2009.…”

Competing Risks for a Diagnosis of Invasive Breast Cancer—Reply

“…1 Although we do not have data to directly assess this issue, we believe that our findings are robust; this is an average-risk cohort, and very few women are likely to have received these interventions. [2][3][4][5] This view is supported by 4 observations. First, Pocobelli et al 3 assessed a cohort of 18 390 women, including a subcohort from our analysis, who were 35 years or older and reported a personal or family history consistent with an inherited susceptibility to breast and/or ovarian cancer between 2004 and 2009.…”

“…In Reply Syn expresses concern that our analysis of the long-term accuracy of breast cancer risk assessment in a cohort of women who underwent breast cancer screening could be inadequate because some women could have undergone risk-reducing surgery or preventive therapy . Although we do not have data to directly assess this issue, we believe that our findings are robust; this is an average-risk cohort, and very few women are likely to have received these interventions . This view is supported by 4 observations.…”