2020-05-012024-05-17https://scholars.lib.ntu.edu.tw/handle/123456789/690411摘要：本計畫長程目標為建立一個符合世界級規範並包含「基礎/轉譯醫學-功能性基因體學研究」與「臨床應用-精準醫療檢測」的核心實驗室。過去一期計畫本實驗室執行成效簡述如下。學術提升方面：論文發表計5篇。另參與由中研院主持之國際癌症登月計畫，專責肺癌與乳癌的檢體製備與基因體定序，研究成果正於細胞雜誌複審中，並提出兩項暫時性專利。促進經濟方面：至今年一月底服務收入約一千六百萬元，共執行五件跨年度產學合作案，產業界投資金額約兩千兩百萬。包括 (1)國內首例肺癌第三代標靶藥物液態活檢的EGFR T790M體外檢驗試劑，食藥署複審中(2)發展數位化PCR提供癌症臨床試驗所需的c-Met 基因檢測(3) 針對Off-label use，臨床試驗階段或是未申請台灣藥證的腫瘤起始基因與國內廠商合作開發數位化PCR檢測方法(4)分別與阿斯特捷利康，羅氏醫療診斷進行開發癌症免疫治療的基因檢測(5)與台廠合作申請科技部「加速中部地區生醫產業創新計畫」。社會貢獻方面：(1)提供全台肺癌標靶治療之BRAF基因與ALK融合基因檢測(2)針對實體瘤、復發或抗藥性癌症，提供臨床醫師具醫學認證之二代測序多基因檢測報告(3)提供肺癌標靶治療所需之RET 融合基因二代測序檢測(4)擔任衛福部食藥署ISO17025評審員與LDTS實驗室查核員，協助LDTS指引與精準醫療分子檢測確效指引遺傳疾病草案的完善與生技公司LDTS列冊查核，並參與2020年衛福部「精準醫療分子檢測實驗室間能力試驗或比對機制之研析」，負責舉辦，製備，提供，評估基因檢測能力試驗。另在美國NCI協助下進行兩年期的「甲狀腺球蛋白質譜定量」技轉，同時爭取經濟部工業合作計畫引進美國亞利桑納大學蛋白晶片製程，希望開展在癌症蛋白標誌的檢測技術。在第二年延續計畫裡，我們將持續三個重點以達到本計畫的長程目標(1)先進與完善的功能性基因體研究平台建置：持續優化以 10X Genomics為主的單細胞研究平台、長片段單分子RNA與DNA次世代定序系統及與數位化 PCR 技術平台。(2)提供客製化醫學基因檢驗報告：包括次世代定序及、數位化 PCR 技術在基因檢測及液態活檢上的應用及核酸質譜在單一核苷酸多型性檢測上的應用(3) 完善台灣生技產業價值鏈: 訓練生技產業人才，推動產業升級，藉由多角化產學合作策略，開發健保資料庫與人工智慧應用，補足台灣生技醫藥產業技術缺口。<br> Abstract: The long-term goal of the project is to build a world-class core laboratory for "Basic and Translation Medicine-Functional Genomics Research" and "Clinical Application-Precision Medicine". The past performance in Academic improvement: 5 research papers have been published. Our laboratory participates in the International Cancer Moonshot Project hosted by the Academia Sinica, specializing in the genome sequencing of lung and breast cancer. The current research results are reviewed in the Cell Journal, and two temporary patents have been filed. Economic promotion: The service income of the last period was about 16 million NTD as of the end of January. 5 industry-academia cooperation cases (inter-annual) were operated, and the investment from the industry was about 22 million. Including (1) Developing the first domestic EGFR T790M in vitro test reagent for liquid biopsy of the third-generation TKI for lung cancer (TFDA reviewing) (2) Development of digital PCR to provide c-Met gene detection for cancer clinical trials. (3) Developing the digital PCR gene detection methods with domestic manufacturers for tumor driver genes that are off-label use and are still in clinical trials or have not applied for a drug certificate in Taiwan. (4) Carrying out genetic testing, evaluation and development of cancer immunotherapy with AstraZeneca and Roche Medical Diagnostics, respectively. (5) Cooperate with Taiwan Biotech Company to jointly propose the "Accelerate Innovation Plan for Central Taiwan Biomedical Industry (MOST)". Social contributions: (1) Provide gene test of BRAF and ALK fusion genes for TKIs of lung cancer in Taiwan. (2) For patients with solid tumors, relapses or drug-resistant cancers, providing ISO15189 certified NGS reports to assist clinicians in treatment. (3) Provide NGS of RET fusion genes required for lung cancer TKI. (4) Principal investigator is acting as an ISO17025 and LDTS (laboratory developed test) reviewer of the TFDA, assisting in the improvement of the LDTS guidelines, draft for genetic disease molecular testing validation and the biotech company listing for LDTS review. PI also participated in “Research and Analysis of Proficiency Tests or Comparison Mechanisms in Molecular Testing Laboratories for Precision Medicine” program (MOHW), responsible for hosting, preparing, providing, and evaluating of proficiency tests. In addition, with the assistance of the U.S. NCI, a two-year thyroid globulin protein spectroscopy tech transfer plan was pursued. Meanwhile the Industrial Cooperation Plan (MOEA) was introduced. A technology transfer of “high-throughput protein chip manufacturing process” from University of Arizona is reviewing for detection of protein markers in cancer. In the second-year plan, we will focus on 3 key parts to achieve the long-term goals. (1) Establishing advanced and comprehensive genomics platforms and providing total solution: continuously optimize single-cell research platforms based on 10X Genomics, NGS such as long-segment single-molecule RNA and DNA sequencing System and Digital PCR technology platform. (2) Providing medical-certified gene testing report and LDT/IVD experience for collaboration: including NGS, Digital PCR technology for genetic testing and liquid biopsy, DNA mass spectrometry in SNP detection application. (3) Completing Biotech value chain by education, international/ industrial-academic collaborations, and promotions.基礎/轉譯醫學-功能性基因體學研究臨床應用-精準醫療檢測基因檢測體外檢驗試劑產學合作Basic and Translation Medicine-Functional Genomics ResearchClinical Application-Precision MedicineGene TestingIn vitro Diagnosticindustrial-academic collaboration