Impact of Genetic Counseling on Testing and Surgical Prevention in High Risk Women

(Aug 1. 2016) Results of a study reported last month in Cancer show that routine referral of women at high risk for ovarian cancer to genetic counseling promotes genetic testing and prophylactic surgery.

Guidelines recommend genetic counseling and testing for women who have a pedigree suggestive of an inherited susceptibility for ovarian cancer (for example, BRCA1 and 2 genes). The authors evaluated the effect of referral to genetic counseling on genetic testing and prophylactic oophorectomy in a randomized controlled trial.

In this study, 458 women identified as high risk for inherited susceptibility to ovarian cancer using a risk-assessment questionnaire provided informed consent and were randomized 1:1 to intervention consisting of a genetic counseling referral (n = 228) or standard clinical care (n = 230).

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%) women in the intervention arm and and 20 (9%) women in the control arm. Five women in the intervention arm and 2 in the control arm were identified as germline mutation carriers. Ten women in the intervention arm and 3 in the control arm underwent prophylactic bilateral salpingo-oophorectomy.

Routine referral of women at high risk for ovarian cancer to genetic counseling promotes genetic testing and prophylactic surgery. The findings from the current randomized controlled trial demonstrate the value of implementing strategies that target women at high risk for ovarian cancer to ensure they are offered access to recommended care.

Click here to read the full abstract.