本文探討大規模人口遺傳疾病篩檢的倫理議題與國家政策，介紹常見的人口基因篩檢或遺傳疾病篩檢、說明其基本原則，分析大規模人口遺傳疾病篩檢的倫理議題(包括實務層面與理論層面)，並以美、英及法等國為例介紹其國家政策，本文期能作為我國發展相關臨床作業指引及國家政策之參考。

This paper investigates the ethical issues and national policy in population-based genetic screening.Common types and principles of population based genetic screening are first introduced. The ethical issues of population-based genetic screening which include practical and theoretical perspectives are analyzed. The national policies of the US, UK and France are summarized and presented. It is hoped that this paper can provide important references for Taiwan’s developing future clinical practice guidelines and national policies.