精準醫療時代之基因檢測：多基因風險評分（PRS）於臨床應用之倫理與規範考量【本期企劃】 試閱
Genetic Testing in the Era of Precision Medicine: Ethical and Regulatory Considerations for the Clinical Application of Polygenic Risk Scores (PRS)
隨著精準醫療的發展，基因檢測已成為疾病風險評估與臨床決策的重要工具。多基因風險評分（polygenic risk score, PRS）整合大量基因變異資訊，可用以預測個體對於多因性疾病的易感性。然而，PRS於臨床應用上仍面臨倫理、法律與社會挑戰，包括結果解釋的透明度、個資隱私保護、族群公平性以及臨床責任歸屬等議題。本文旨在探討PRS於臨床應用之倫理與規範考量，分析現行國際指引與倫理框架，並提出適合於臺灣的政策建議。研究指出，強化基因資料治理、促進公眾溝通與參與、建立基因諮詢制度與臨床指引，是推動PRS臨床應用的重要關鍵。
With the advancement of precision medicine, genetic testing has become an essential tool for disease risk assessment and clinical decision-making. The Polygenic Risk Score (PRS), which integrates a large number of genetic variants, enables the prediction of an individual’s susceptibility to complex diseases. However, the clinical implementation of PRS continues to face ethical, legal, and social challenges, including issues of interpretive transparency, data privacy, population equity, and clinical accountability. This paper aims to examine the ethical and regulatory considerations surrounding the clinical application of PRS, analyze current international standards and ethical frameworks, and propose policy recommendations tailored to Taiwan’s context. The study highlights that strengthening genomic data governance, enhancing public engagement, and establishing genetic counseling and clinical guidelines are key to promoting the responsible and effective use of PRS in clinical practice.
007-021
