Dr. Rao on Testing for Somatic and Germline Mutations

Jianyu Rao, MD, professor and chief of Cytopathology, University of California, Los Angeles, discusses testing for somatic and germline mutations in patients with ovarian cancer.

Rao says that when a patient is diagnosed with ovarian cancer, clinicians often follow a set of algorithms to help approach genetic testing. For example, a group from Johns Hopkins Medicine has developed an algorithm to simultaneously analyze proteins and genes together with the hope of improving early detection. This technique is still relatively new, and physicians are still waiting for evidence as to whether it is clinically useful in this population.

He adds that with a better understanding of BRCA genes, pathologists can move forward with developing noninvasive approaches to treatment. Testing for mismatch repair deficiency is another recommendation for treatment. There are ways pathologists can improve early detection of ovarian cancer as well, Rao concludes.