精準醫療分子檢測實驗室列冊登錄現況調查   全文下載

Survey on the Registration of Laboratory Developed Test and Service for Precision Medicine Molecular Testing

隨著醫學科技進步，民眾對醫療服務的需求，不再侷限於傳統的疾病治療方式，已拓展至個人化精準醫療，並走向精準健康，而個人化檢測服務需求亦隨之蓬勃發展，更甚發展至臨床服務；相較於傳統檢驗，精準醫療分子檢測相對複雜、分析範圍更廣，且高度精密儀器經常需要透過複雜的統計模型運算數據，伴隨而來的風險也相對提高，因此，檢測品質管理也必須與時俱進。為提升臺灣精準醫療分子檢測實驗室開發檢測與服務的品質，衛生福利部食品藥物管理署於107年12月17日公告制訂「精準醫療分子檢測實驗室檢測與服務指引」，並辦理精準醫療分子檢測實驗室列冊登錄作業。本研究調查108年至110年度精準醫療分子檢測實驗室列冊登錄相關案件，探討實驗室所提供之檢測項目，其技術項目分類以次世代定序為大宗（佔49.5 %），其服務範圍分類以體細胞突變或生殖細胞突變為主（各佔37.5 %），並分析實地查核觀察事項所載之缺失態樣，其中「技術要求」相關缺失最常見，其次是「品質要求」及「人員及設備要求」，顯示相關實驗室的品質管理系統逐漸成型。

With the advancement of medical technology, the public demand for medical services is no longer limited to traditional disease treatment, but has begun to expand to personalized precision medicine and toward precision health, so the demand for personalized testing services has also flourished. Compared with traditional testing, precision medicine molecular testing is relatively complex with a wider range of analytical scopes and highly sophisticated instruments are often needed to process data through complex statistical models. The associated risks thus increased accordingly. Therefore, quality management system of laboratory must also keep pace with the times. In order to improve the quality of Taiwan’s precision medicine molecular testing laboratory testing and services, the Food and Drug Administration of the Ministry of Health and Welfare announced the “Guidelines for Registration and Monitoring of Laboratory Developed Test and Service for Precision Medicine Molecular Testing” on December 17, 2017, and conducted the registration of precision medicine molecular testing ever since. This study surveyed the cases related to the registration of precision medicine molecular testing laboratories from 2019 to 2021, and reviewed the testing items provided by the laboratories. The classification of technology is dominated by next-generation sequencing (49.5%), and its service area is mainly classified as somatic mutation or germline mutation, each accounting for 37.5%. It is found via on-site inspections that the most common nonconformity cases were related to “skills requirements”, “quality requirements” and “personnel and equipment requirements”, indicating that the quality management systems of relevant laboratories are taking shape.