BRCA Testing of Women with Ovarian Cancer: Which Strategy Is Best?

About 10% of women with ovarian cancer carry BRCA mutations. Investigators developed a simulation model to estimate costs and benefits of BRCA testing in women with ovarian cancer (index cases) using one of four strategies:

1. No BRCA testing (reference strategy)

2. Testing only those index cases who were of Ashkenazi Jewish ancestry, had personal histories of breast cancer, or had family histories of breast or ovarian cancer (Society of Gynecologic Oncologists [SGO] recommendation)

3. Testing only if index cancer was serous (the most common form of ovarian cancer)

4. Testing all index cases

The model was based on the assumption that, if index cases tested positive, first-degree relatives (FDRs) could be tested and, if positive, could undergo prophylactic procedures. Projections were made for two scenarios: the "ideal," in which all FDRs of mutation-positive index cases were tested and all who were positive underwent prophylactic surgery; and the "realistic," in which 50% of FDRs of mutation-positive cases were tested and 70% who were positive underwent prophylactic surgery.

In the ideal scenario, strategies 2 (i.e., SGO-based), 3, and 4 were associated with approximate costs of US$20,000, $65,000, and $74,000 per life-year gained, respectively, compared with no testing. In the realistic scenario, strategies 2, 3, and 4 were associated with approximate costs of $32,000, $128,000, and $148,000 per life-year gained, respectively, compared with no testing. The authors concluded that testing ovarian cancer cases according to the SGO strategy represents a cost-effective approach to lowering rates of future breast and ovarian cancers among FDRs and that more-inclusive testing approaches could prevent more cases (albeit at substantially higher costs).

Comment: More women are learning about familial breast and ovarian cancer and the availability of BRCA testing. When a woman without a history of cancer informs her clinician about a first-degree relative who has ovarian or breast cancer, BRCA testing, if appropriate, optimally is performed in the affected relative. If the test is positive, unaffected relatives can be counseled and tested. Unfortunately, when I suggest this strategy to my patients, more often than not the affected relative does not undergo BRCA testing. This might reflect challenges such as testing costs, reluctance to be tested, and limited access to clinicians who are willing to counsel and test. By highlighting the possible benefits and costs associated with BRCA testing, reports such as this one should lead to more candidates being tested appropriately.