While mammograms and physical exams have long been options offered to help women detect breast cancer, people with a family history of the disease could benefit from more proactive choices. Ken Onel, senior vice president of translational genetics with Sema4, spoke with Outsourcing-Pharma about the powerful tools and technology available to help patients, caregivers, and researchers pinpoint and fight the disease.

OSP: Could you please share an overview of how breast cancer detection and diagnostic testing have evolved in recent years?

KO: Advances in imaging, such as tomosynthesis, have helped clinicians detect and diagnose breast cancer earlier than by traditional mammogram alone. The recognition that hereditary cancer testing can save lives and even change the health trajectory of families has led many primary care providers and OB/Gyns to perform testing to identify women at high risk for breast cancer (and other cancers as well).

As a result, these women can be followed closely so that, if they develop breast cancer, it can be caught early when it is most curable.

OSP: Specifically, how has genetic testing helped in detecting and preventing BC in at-risk patients?

KO: About one in eight women will be diagnosed with breast cancer over the course of her life. Women who have what is referred to as a “pathogenic variant” in a gene associated with an inherited predisposition to cancer, such as BRCA1 or BRCA2, may have an increased lifetime risk of being diagnosed with breast cancer as compared to women in the general population. These women can be offered more intensive surveillance for breast cancer, starting at a younger age and using additional imaging modalities. This allows doctors to identify cancers at earlier stages when they are more treatable.