Hsiehchen, David2023-06-072023-06-072021-052021-05-01May 2021https://hdl.handle.net/2152.5/10079BACKGROUND: Medical management of advanced cancers is increasingly guided by predictive biomarkers. Tumor mutation testing using commercial assays examining select gene panels is now incorporated in the standard work-up of advanced cancers. With some exceptions, existing and emerging biomarkers remain inadequate clinical tools for many patients, and anecdotal evidence and small phase trials have driven much of the enthusiasm for biomarker-driven treatments. The purpose of this study is to assess predictive clinical factors of successful gene mutation testing and to determine whether tumor mutation testing directly impacts clinical practice. METHODS: All submitted test requests from UT Southwestern faculty to Foundation One were abstracted for test success and mutation results. Patients were cross-referenced in the EPIC electronic health record information. To evaluate practice changes and patient outcomes after one-year of follow-up, we collected data from the first 100 patients that underwent next generation sequencing testing (excluding PD-L1 testing) in 2020. RESULTS: Among the 100 patients studied, the typical patient was close to older age (mean age 58.7 years), female (56%), Caucasian (52%), insured (71%), and with stage 3 or 4 cancer (79%). The most common tumor types were breast (20%), colorectal (18%), and myelodysplastic syndrome (9%). 20% of patients (20/100) were found to have an actionable mutation and 2 patients were enrolled in clinical trials due to Foundation Medicine testing. Among the 20 patients with an actionable mutation, 5 of them (25%) had a change in therapy. All of these patients responded to the change in therapy with stable disease, and while three of them started the therapy within a month of the Foundation testing resulting, the other two waited 5 and 11 months. The fifth patient was actually found to not have disease but was placed on a maintenance therapy as a result of the testing. CONCLUSIONS: While precision medicine offers the promise of better understanding genomic drivers of disease, it is unclear if the benefits of such an approach outweigh the risk on a population level and if resulting changes in patient care are superior as compared investigator-chosen therapies. Medical oncologists should continue to apply intelligent and judicious use of Foundation Medicine testing.application/pdfenGenetic TestingGenomicsMedical OncologyNeoplasmsThesis2023-06-071381370390