Genetic Counseling for Ovarian Cancer Risk Assessment

Introduction to Genetic Counseling

The American Academy of Family Physicians recommends referral for genetic counseling to assess ovarian cancer risk and determine if BRCA or Lynch syndrome testing is appropriate for women with a family history of ovarian cancer 1, 2, 3

The US Preventive Services Task Force (USPSTF) explicitly recommends against routine ovarian cancer screening, even in women with a family history, due to no mortality benefit and significant harms, including high false-positive rates and unnecessary surgeries 1, 2, 3, 4
Screening with CA-125 and transvaginal ultrasound leads to high false-positive rates, with 300-350 women recalled per 10,000 screened, and 20-65 women per 10,000 undergoing unnecessary surgery annually 4
The positive predictive value of screening tests is poor, with only 1-2% of positive screening tests representing actual cancer 4, 5

The American College of Obstetricians and Gynecologists (ACOG) recommends referral for genetic counseling for women with two or more first- or second-degree relatives with ovarian cancer 1
Referral is also recommended for women with a combination of breast and ovarian cancer in the family 1
For Ashkenazi Jewish women, referral is recommended if there is one first-degree relative or two second-degree relatives on the same side with breast or ovarian cancer 6

Genetic counseling can calculate lifetime ovarian cancer risk and determine if BRCA1/BRCA2 or Lynch syndrome testing is indicated 7, 4
If a mutation is found, management changes entirely, with consideration of risk-reducing bilateral salpingo-oophorectomy 4, 5

The American Cancer Society recommends discussing proven risk-reduction strategies, including oral contraceptive use, which reduces ovarian cancer risk by approximately 50% 5
Pregnancy and breastfeeding are also protective against ovarian cancer 1, 6
Bilateral tubal ligation reduces ovarian cancer risk 1, 6