Universal Germline Screening in Cancer

A recent JAMA Oncology study conducted by Mayo Clinic researchers has found that universal multigene panel screening of patients with solid tumor cancers resulted in increased detection of high-risk heritable variants compared to current targeted testing guidelines. Heritable genetic variants contribute to the risk of developing many types of cancers, and identifying these germline mutations can influence prevention, screening, diagnosis, and treatment of the disease. 

To determine whether universal genetic testing in cancer patients can identify more patients with inherited cancer variants than current testing guidelines, the researchers measured the frequency of germline mutations in 2,984 newly diagnosed solid tumor cancer patients via germline sequencing using an 83-gene next-generation sequencing panel. 

The results indicated that 1 in 8 patients had a high-risk germline variant, of which about half would not have been detected via current targeted testing guidelines. The multigene panel results also led to clinical management changes for almost 30 percent of the patients tested. Without long-term follow up, it’s unclear whether germline testing will affect patient outcomes, such as cancer-related morbidity and mortality. 

However, the results demonstrate that many people newly diagnosed with cancer did not know that they had a hereditary predisposition for the disease, suggesting that current germline testing guidelines are too restrictive. This restricted access means that some people with genetic predispositions for cancer go undiagnosed and undertreated.