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abstract:
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
BACKGROUND
Guidelines
recommend genetic counseling and testing for women who have a pedigree
suggestive of an inherited susceptibility for ovarian cancer. The
authors evaluated the effect of referral to genetic counseling on
genetic testing and prophylactic oophorectomy in a randomized controlled
trial.
METHODS
Data
from an electronic mammography reporting system identified 12,919 women
with a pedigree that included breast cancer, of whom 625 were
identified who had a 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 years, and 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 < .005), respectively. 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 (P < .05).
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