Referral for Genetic Counseling is Recommended
This 40-year-old woman with one relative diagnosed with ovarian cancer should be referred for genetic counseling to assess her risk and determine if BRCA or Lynch syndrome testing is appropriate. 1
Why Genetic Counseling, Not Screening Tests
The USPSTF explicitly recommends against routine ovarian cancer screening (Grade D recommendation) even in women with a family history, because: 1
- No mortality benefit: Annual screening with CA-125 and transvaginal ultrasound does not reduce ovarian cancer deaths, even in women with family history 1, 2
- Significant harms outweigh benefits: Screening leads to high false-positive rates (300-350 women recalled per 10,000 screened), with 20-65 women per 10,000 undergoing unnecessary surgery annually 2
- Poor positive predictive value: Only 1-2% of positive screening tests represent actual cancer 2, 3
When to Refer for Genetic Counseling
Referral criteria for genetic counseling include: 1
- Two or more first- or second-degree relatives with ovarian cancer
- A combination of breast and ovarian cancer in the family
- For Ashkenazi Jewish women: one first-degree relative OR two second-degree relatives on the same side with breast or ovarian cancer
Critical Missing Information
The question states "a relative" but doesn't specify:
- First-degree (mother, sister, daughter) vs. second-degree (grandmother, aunt)
- Age at diagnosis of the relative
- Presence of other breast or ovarian cancers in the family
- Ashkenazi Jewish ancestry
Despite having only one known affected relative, referral for genetic counseling is still appropriate because: 2, 3, 4
- 44% of patients with high-grade serous ovarian cancer and germline BRCA mutations do not report a family history 1
- 19% of BRCA mutation carriers have no family history of hereditary breast or ovarian cancer 4
- The genetic counselor can obtain a more detailed three-generation pedigree than typically obtained in primary care 5, 6
Why Not CA-125 or Transvaginal Ultrasound
These tests should NOT be ordered because: 1, 2
- They do not reduce mortality even in high-risk women 1
- Lead to unnecessary surgeries with complications (21 major complications per 100 procedures for false-positives) 3
- One-third of women with false-positives undergo oophorectomy unnecessarily 3
What Genetic Counseling Accomplishes
The genetic counselor will: 1, 2
- Obtain detailed three-generation family history
- Calculate lifetime ovarian cancer risk
- Determine if BRCA1/BRCA2 or Lynch syndrome testing is indicated
- If a mutation is found, management changes entirely with consideration of risk-reducing bilateral salpingo-oophorectomy 2, 3
Risk-Reduction Counseling
While awaiting genetic counseling, discuss proven risk-reduction strategies: 1, 2
- Oral contraceptive use reduces ovarian cancer risk by approximately 50% 3
- Pregnancy and breastfeeding are protective 1
- Bilateral tubal ligation reduces risk 1
Symptom Awareness
Educate about ovarian cancer symptoms (though early-stage disease is usually asymptomatic): 2, 7, 8
- Abdominal or pelvic pain
- Bloating or increased abdominal girth
- Early satiety
- Urinary urgency and frequency
Common Pitfall to Avoid
Do not order CA-125 or transvaginal ultrasound thinking you're "doing something" for the patient. This creates more harm through false-positives, anxiety, and unnecessary surgeries without any mortality benefit. 1, 2, 3 The appropriate action is genetic counseling referral, not screening tests.