Are Genetic Testing Guidelines a Tool or an Obstacle?

Guidelines intended to identify patients with genetic pathogenic variants have, once again, proven insufficient in predicting inherited cancer mutations.

A new paper published in JAMA Oncology found that universal genetic testing detected more clinically actionable variants than a guideline-based approach, resulting in significant changes in treatment for 30% of patients with pathogenic variants. At least half of these patients would not have been discovered if guidelines had restricted genetic testing.

For us, these findings were familiar. The latest research further validates what we discovered in December of 2018 -- that nearly half of breast cancer patients with a genetic mutation are being missed by current testing guidelines.

Nearly two years later, we have more supporting evidence to answer the pressing question: Are genetic testing guidelines a tool or an obstacle? One research paper after another, findings point to 'obstacle.'

The underdiagnosis of hereditary cancer can no longer be ignored.

It’s time to adapt testing guidelines to better serve cancer patients, empowering them with DNA insights and delivering better care.