Missing Opportunities to Prevent Ovarian Cancer
Approximately 1 in 5 women diagnosed with ovarian cancer have an inherited mutation in a gene that helps explain why ovarian cancer was developed. About two-thirds of the time, the mutation will be found in a BRCA gene. About one-third of the time, a mutation will be found in another gene.
Genetic testing for women with ovarian cancer can help guide treatment options, provide information about other cancer risks and related recommendations to reduce those risks, and also provide valuable information for family members.
Cancer patients are often not offered appropriate genetic testing.
A recent study of women receiving healthcare through federally funded clinics in the southeastern United States found that only 8% of women who met Medicare eligibility criteria for BRCA testing actually had genetic testing done.
Out of 718 women (62% black, 33% white) diagnosed with breast or ovarian cancer, 92 women (12.8%) met Medicare criteria. Yet only 8 of these women (8.7%) were tested.
Did some of these women decline genetic testing? Perhaps. But for about half of these women (48 out of 92), medical records were reviewed. A need for genetics services was documented in less than 10% of cases; in no cases was a referral to genetic counseling documented.
Back to basics.
Despite all the advances in genetics, including excitement over CRISPR and genetic risk scores, we’re still not doing a great job with the basics: identifying individuals who have relatively common, single gene disorders that confer a significant increase in risk and whose medical management could be modified to significantly reduce these risks.
Two of the three single gene disorders identified by the CDC as Public Health Genomics priorities confer an increased risk for ovarian cancer: Hereditary Breast and Ovarian Cancer (HBOC) and Lynch syndrome.
Identifying a mutation in the family can help to sort out not only who is at an increased risk for ovarian and possibly other cancers, but who is at an average risk for cancers, in spite of the family history.
Isn’t clinical genetic testing prohibitively expensive?
All women with a personal diagnosis of ovarian cancer or a first- or second-degree relative with ovarian cancer meet NCCN guidelines for HBOC genetic testing. Although Medicare will only cover test for individuals who have a personal diagnosis of cancer, most commercial insurances in the United States do follow NCCN guidelines and will cover genetic testing for patients with a family history of ovarian cancer. For patients whose insurance does not cover genetic testing, some laboratories offer high quality clinical testing offer relatively low-cost out-of-pocket options (ex. $250). Other laboratories offer financial assistance (aka free testing) to uninsured patients who meet certain medical and financial criteria.
For women at high risk for ovarian cancer, related to a mutation in a BRCA gene or another gene (ex. Lynch syndrome genes, RAD51C, RAD51D, or BRIP1), the recommendation is to remove both ovaries and fallopian tubes. Timing for this depends on the gene in which a mutation is found as well as family history.
To hear a patient’s story of her family history of ovarian cancer, her genetic counseling and testing experience, and her decision to have her ovaries and fallopian tubes removed, listen to our most recent Patient Stories podcast!
- Be an advocate for yourself. If your physician hasn’t asked you about your cancer family history or talked to you about genetic counseling or testing options–be proactive, ask! Or take the initiative to schedule a genetic counseling appointment on your own.
For Healthcare Providers
- If your practice is looking for support to make sure you are offering genetic testing to all appropriate patients, check out our healthcare provider support packages.
References & Further Reading:
“BRCA Testing in Medically Underserved Women in Southeastern United States.” The Asco Post. August 17, 2018.