Abstract

Biomarker Development and Clinical Practice in Precision Medicine

Sung-Liang Yu, Professor, Department of Clinical Laboratory Sciences and Medical Biotechnology, National Taiwan University College of Medicine

Precision medicine is the trend of modern therapy promoted by United States President, Obama, particularly, the APPLLO Oncology Network has officially gone globally in Jul 2016. According to the cancer therapeutic strategies, we developed two lung cancer prognostic markers for chemotherapy, a 5-gene marker and a 5-microRNA marker that predict survival of patients with non-small cell lung, NSCLC and a 6-CNV marker (copy number variation) that can predict overall and disease-free survivals of patients with EGFR-activating mutation treated with EGFR-TKI. Cancer patients largely may benefit from the development of molecular target therapy and companion diagnosis. Patients avoid inappropriate treatment, adverse effects and poor life quality as well as unsatisfied survival by personalized medicine. We developed a quantification method for gene mutation by DNA mass spectrometry that can detect as low as 1% gene mutations. Based on these assays we establish an ISO15189 certificated reference Lab to provide more than 10,000 clinical services for clinical trials and translational medicine. Recently, we identified the YAP1 R331W as an allele predisposed for lung adenocarcinoma with high familial penetrance. The adjusted Odds Ratio is 6.4 after screening for 3,000 individuals. It is the first germline driver mutation found in Asia. In the middle of 2016, we carried out PT test (proficiency test) of cfDNA for T790M detection which is the first time performed in Asia. The genomic approaches are also applied for other diseases, including colorectal, gastric, ovarian cancer and leukemia. Most importantly, how to reduce the cancer incidence is the critical issue we should try to overcome in the near future.