基因諮商的倫理與規範【本期企劃】 試閱
Ethical Implications of Genomic Counseling
由於基因體醫學的發展迅速,近來有所謂「基因諮商」的新名詞出現,然其與傳統上「遺傳諮詢」的倫理原則基本上幾無差別,惟基因諮商所涵蓋的範圍更廣,預測未來罹患某些疾病之機率計算更複雜,健康風險溝通更不容易,相關之倫理準則或法律規範則顯闕如。因應目前高密度基因晶片及次世代基因定序之進展,本文針對游離胎兒DNA染色體異常母血篩檢、未成年人基因檢測與新生兒篩檢、二次結果之告知、擴展性帶因者篩檢等新增議題的倫理或規範作探討。
Rapid advance in genomic medicine has expanded its scope beyond traditional maternal and child health programs and rare genetic disorders. Precision medicine based on genetic susceptibility and big data analysis of common disorders will transform clinical practice in the near future. Although the basic ethical principle such as informed consent, respect for autonomy and confidentiality, non-discrimination, continue to apply in the process of counseling, the evolution of genetic counseling to genomic counseling presents new challenges in interpreting genetic information, and conveying disease risk and prevention. In this article, we will emphasized the issues of non-invasive prenatal screening using cell free fetal DNA, genetic testing on children and adolescents, disclosure of secondary findings and expanded carrier screening.
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