Researchers from Tempus partnered with MD Anderson Cancer Center and the Dana-Farber Cancer Institute to study the value of germline testing in patients with advanced cancer. 

Recent studies have found that 12-17% of cancer patients carry pathogenic germline variants (genetic alterations) that translate to cancer predisposition. Despite this, many cancer patients do not meet guidelines for testing and these germline pathogenic variants go undetected. The identification of pathogenic germline variants is essential not only for optimal care for the cancer patient but also to initiate genetic testing for at-risk family members who may also carry the mutation. This analysis represents the largest real-world data, retrospective analysis, of patients diagnosed with advanced cancer who underwent paired tumor normal matched next generation sequencing in order to identify patients who may have a germline pathogenic variant. This analysis showed that 7.3% of the 34,642 patients had pathogenic or likely pathogenic germline variants in cancers that lack testing guidelines, and would have gone undetected, particularly affecting patients with bladder and lung cancer. This study highlights the value of tumor normal paired sequencing in identifying germline findings in patients, which can inform a more effective care plan, treatment options and risk reducing interventions for the patients and affected family members. 

“In our study, we used a tumor normal matched approach to tumor sequencing, and this multimodal data analysis provided the benefit of uncovering germline variants which were identified in 5-8% of tumors,” said Timothy Yap, MBBS, PhD, FRCP of MD Anderson Cancer Center. “This is especially useful in cancer types lacking testing guidelines, specifically bladder and lung cancer which showed the highest prevalence of germline findings in this group”

This study was presented at the ASCO Annual Meeting in June 2021 and was then published in JAMA Network Open in May 2022.