Dr. Perou on Next Generation Sequencing Technology

Charles M. Perou, PhD, professor of genetics, pathology & laboratory medicine, UNC Lineberger Comprehensive Cancer Center, discusses the next generation of sequencing technology and tests for breast cancer.

The clinical application of new sequencing tests hinges upon ongoing clinical trials. Perou describes that conventional trials must first validate the efficacy of new agents, which must be conducted alongside biomarker studies looking at a handful of driver mutations or whole genome sequencing. The goal of these trials is to establish whether specific mutations can predict a response to therapy.

Trials are currently investigating therapeutics that inhibits phosphoinositide 3-kinase (PI3K) activity. A mutation in PI3K occurs in approximately 30-40% of all breast cancer. There are currently multiple PI3K inhibitors in clinical development, but it is still unclear whether having the mutation makes you more sensitive to therapy. Additionally, other markers, such as PTEN, which is downstream from PI3K, could be implicated in the effectiveness of treatment.

Perou notes that research is on the right track, but the clinical application of these new agents may still be multiple years down the road.