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題名 | 次世代定序基因檢測與諮詢之倫理與準則=The Ethics and Guidelines of Next-generation Sequencing Genetic Testing and Counseling |
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作者 | 蔡甫昌; 莊宇真; 簡穎秀; 李妮鍾; 王洪執佑; 林炫沛; 胡務亮; | 書刊名 | 臺灣醫學 |
卷期 | 24:2 2020.03[民109.03] |
頁次 | 頁125-141 |
分類號 | 410.1619 |
關鍵詞 | 次世代基因定序; 基因檢測; 偶然發現; 意義未明之變異; Next generation sequencing; Genetic testing; Incidental findings; Variant of unknow significance; VUS; |
語文 | 中文(Chinese) |
中文摘要 | 本文探討次世代基因定序(next-generation sequencing, NGS)基因檢測應用之相關倫理議題,分析偶然發現、意義未明之變異、孩童檢測、與親屬通知四類常見主題及其建議措施,進而探討執行次世代基因定序相關知情同意之内容、過程與挑戰,並就此内涵與實務工作需求,設計NGS知情同意與說明書,最後提出次世代定序檢驗及諮詢倫理準則。作者期望透過本文之分析與倫理準則之提供,能有助基因醫學研究人員與醫護人員在面對次世代定序之研究與臨床實務工作時,以及研究倫理委員會委員在進行此類型研究案之審查時,能有較周延之倫理思維與實踐。 |
英文摘要 | This paper explores the ethical issues arising from next-generation sequencing genetic testing which include "incidental finding", "variants of unknown significance", "children testing", and "informing family and relatives" and their recommended actions. The content, process and challenge of informed consent for NGS genetic testing are examined, and consent form and explanation documents for research are developed. Finally, the ethical guidelines for NGS genetic testing and counselling are established. It is hoped that through the analysis of this paper and the proposed ethical guidelines, researchers and health care professionals from medical genetic, as well as the members of research ethics committees can have a useful reference for their research, clinical practice and ethics reviews. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。