教育演講3:轉譯醫學的現況與展望

程 序 表

E3-5
基因體學在癌症體外診斷醫療試劑的研發
Genomics for tumor IVD development
俞松良
台大醫學院醫技系

  There are three kinds of cancer markers used in cancer prevention and treatment including risk assessment marker, prognostic marker and predictive marker. In the past we identified two lung cancer prognostic markers, a 5-gene marker and a 5-microRNA marker, that predict survival of patients with non-small cell lung cancer, NSCLC. Both studies provide the important insight in chemotherapy of lung cancer. On the other hand, we identified 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 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 gene mutation quantification method by DNA mass spectrometry that can detect as low as 1% gene mutations. We found that the pre-treatment T790M mutation was associated with shorter PFS of EGFR TKI therapy in NSCLC patients. To meet clinical requests we established an ISO15189 certificated reference Lab to provide clinical service for clinical trials and translational medicine. We provide well-established gene tests and develop customized assays to support clinical trials and develop companion diagnosis via this ISO15189-certificated reference Lab. On the other hand, we develop comprehensive functional genomics platforms to support the state-of the-art techniques for researchers to strengthen the basis of medical sciences. We provide advanced functional genomics tools including NGS, digital PCR, microarrays, microfluidic station, and other genomic assays. We are establishing a lot of advanced techniques for cut-of-edge studies including detection of gene mutations in circulating DNAs (cfDNAs), purification of single circulating tumor cells (CTCs), single cell sequencing, single molecule sequencing with 10K base-paired, detecting CNVs in FFPE, mutation detection by high sensitive and ultra-high sensitive gene test methods, and loss-of-function screening by TRC shRNA library. This R&D ability is important for developing molecular diagnostic assays to benefit patients and physicians.