Is Population Testing for Hereditary Breast and Ovarian Cancer Worthwhile?

Andrew M. Kaunitz, MD


December 24, 2020

This transcript has been edited for clarity.

Today I'd like to ask: Is population testing for hereditary breast and ovarian cancer worthwhile?

In women with BRCA1 and BRCA2 mutations, lifetime risks for breast and ovarian cancer are high. Risk-reducing surgeries and other interventions can lower cancer risks in this population.

Investigators created a model to compare population testing in unselected women vs referring women with a high-risk family history for genetic counseling and possible testing. With this model, they found that population testing prevented more cancers than did family history–based testing.

Many carriers of hereditary breast and ovarian cancer genes are currently identified only after a diagnosis of malignancy, underscoring the potential benefits of population screening. However, it's not clear that this report has adequately assessed the downstream implications of population testing.

In my practice, if family history suggests that a patient is at elevated risk for breast or ovarian cancer, I refer her to a credentialed genetics counselor with special expertise in hereditary cancers. Once counseled, patients then decide whether or not to proceed with genetic testing, and the counselor works with the patient and her clinicians to determine appropriate responses to the results of genetic testing.

I was not able to identify that the investigators included pretest genetic counseling in their model of population screening. However, if genetic counseling is not performed, the task of interpreting test results falls on the patient and her clinicians.

Women may not be prepared to respond appropriately to the results of genetic testing without expert counseling. Clinicians may likewise feel inadequately prepared to help patients understand and act on test results. Some patients might undergo inappropriate risk-reducing surgeries and other interventions, while others who would benefit from such interventions might fail to pursue them.

The demand for genetics counselors currently has outstripped supply. I acknowledge that population screening for genes associated with breast and ovarian cancer could identify more mutation carriers. However, until we can ensure that women will have access to experts who can help them interpret results of genetic testing, I'll continue with my approach of referring patients with high-risk family histories to a genetic counselor.

Thank you for the honor of your time. I am Andrew Kaunitz.

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