精準醫療法制政策與法律議題初探──以美國監理實務為中心

Policies and Legal Aspects of Precision Medicine: Focusing on the U.S. Regulation

近年來基因檢測技術之進展，尤其是以次世代基因定序技術（NGS）為基礎之基因檢測，讓以往昂貴且曠日廢時的基因檢測，能夠快速、廣泛、且深入地針對單一基因、單一或多個外顯子、甚或是全基因組進行定序，進而在臨床上用於多種診斷目的，包括疾病風險預測、診療、以及特定疾病之療法選擇。次世代基因定序檢測在研究與臨床上的導入，讓愈來愈多的基因變異被確認，當中包括可能是特定個人或特定家族所獨有的罕見基因變異。此等基因變異的臨床意義，即與個人化醫療（Personalized Medicine）及精準醫療（Precision Medicine）的未來密切相關。本文以美國實務為觀察對象，研析精準醫療於推動過程中之法制政策與規範議題，包括政策面之規劃、分子檢測、次世代基因定序技術、以及隱私保護與資訊安全相關議題，期能拋磚引玉並俾益於我國完備精準醫療法規環境，進一步推動生技產業發展並增進國人健康福祉。 According to the Precision Medicine Initiative, precision medicine is ''an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.'' U.S. Food and Drug Administration (FDA) believes that advances in genetic testing, such as NGS, can enable rapid, broad, and deep sequencing of a portion of a gene, an entire exome(s), or a whole genome and may be used clinically for a variety of diagnostic purposes, including risk prediction, diagnosis, and treatment selection for a disease or condition. This article focuses upon the latest trends and developments of the U.S. policies on precision medicine and FDA's non-binding regulatory guidance, including Discussion Paper on Laboratory Developed Tests (LDTs), and three copies of (draft) guidance: Infectious Disease Next Generation Sequencing-Based Diagnostic Devices: Microbial Identification and Detection of Antimicrobial Resistance and Virulence Markers, Considerations for Design, Development, and Analytical Validation of NGS-Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases, and Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based IVDs. As to privacy protection and data security, this article introduces the White House's Precision Medicine Initiative: Privacy and Trust Principles, and Precision Medicine Initiative: Data Security Policy Principles and Framework and its Implementation Guide. Through the lens of these regulatory practice, this article generalizes some conclusions and shows possible direction for the Government of Taiwan and the industry.