Referral for Genetic Counseling
This patient should be referred for genetic counseling based on having a first-degree relative (cousin is actually second-degree, but the mother's diagnosis at age 50 qualifies) with ovarian cancer. 1, 2, 3
Why Genetic Counseling is the Correct Next Step
Having a first-degree relative with ovarian cancer at any age is one of the strongest family history criteria requiring genetic counseling referral, with no additional affected relatives or age restrictions needed. 3 The National Cancer Society and American College of Obstetricians and Gynecologists recommend referring women with one first-degree relative with ovarian, fallopian tube, or primary peritoneal cancer at any age. 2 This represents a clear indication that supersedes the need for screening tests.
Why Screening Tests Are Contraindicated
Transvaginal ultrasound and CA-125 screening are explicitly not recommended, even in women with family history, as they do not reduce mortality and cause significant harm. 1, 2 The US Preventive Services Task Force gives a Grade D recommendation against ovarian cancer screening in all women, including those with family history. 1, 3
Key harms of screening include:
- High false-positive rates: 300-350 women recalled per 10,000 screened, with 20-65 women undergoing unnecessary surgery annually 1
- Poor positive predictive value: Only 1-2% of positive screening tests represent actual cancer 1
- No mortality benefit: Screening does not reduce ovarian cancer deaths 1, 4
- Approximately 10% of screened women receive false-positive results, leading to a 20:1 ratio of surgeries to screen-detected cancers 3
Impact on Mortality and Quality of Life
Genetic counseling can identify BRCA1/BRCA2 or Lynch syndrome mutations, which fundamentally changes management:
- Risk-reducing salpingo-oophorectomy (RRSO) dramatically reduces ovarian cancer mortality when performed at appropriate ages (35-40 for BRCA1, 40-45 for BRCA2) 3
- BRCA mutation carriers require enhanced breast cancer surveillance with MRI and mammography starting at age 25-30, which improves early detection and survival 3
- Approximately 10% of ovarian cancer cases have an identifiable genetic mutation 5, and 5-16% of women with ovarian cancer are BRCA carriers 6
Optimal Testing Strategy
Initial genetic testing should ideally be performed on the affected family member (the cousin with ovarian cancer) who has the highest likelihood of carrying a mutation. 3 If the cousin tests positive, this patient can then undergo targeted testing for that specific familial mutation, which is faster and less expensive. 3
Common Pitfall to Avoid
Do not order CA-125 or transvaginal ultrasound as these screening tests cause harm without benefit. 1, 2, 3 Risk-reducing surgery after genetic counseling and testing, not screening, is the evidence-based approach for mutation carriers. 3