罕見疾病（先天代謝疾病）新生兒篩檢政策之探討⎯⎯篩檢原則與父母醫療決定權之衡平 Newborn Baby Screening for Rare Disease: Children’s Best Interest and the Parental Right of Decision

• Main Author: 劉兆菊 Chao-Chu Liu
• Format: Article
• Language: zho
• Published: National Chiao Tung University 2008-12-01
• Series: Kējì Fǎxué Pínglùn
• Subjects: 新生兒篩檢; 罕見疾病; 串聯質譜儀; 醫療決定權; 子女之最佳利益; 篩檢原則; 告知後同意; newborn baby screening; rare disease; tandem mass spectrometery; medical decision right; children’s best benefit; screening principle; informed consent
• Online Access: http://www-old.itl.nctu.edu.tw/tlr_n/papers/ch_paper/5_2/5_2_6.pdf

在生命孕育的奇妙過程當中，小寶貝的健康，是每位父母最大的盼望。人體內三萬多個基因藉由DNA 的複製代代相傳，其中倘有基因發生變異，就可能在生命傳承時，把有缺陷的基因帶給子女，造成遺傳性的罕見疾病的產生。自2001 年7 月1 日起，行政院衛生署積極推動「第二代新生兒篩檢」，透過Tandem Mass 串聯質譜儀來分析人體各種代謝產物，只要一滴血，就可以發現26 種代謝異常疾病。由於新生兒篩檢的受試者是新生兒，須賴其父母作成意思表示。然而，新生兒先天代謝疾病之篩檢屬於遺傳篩檢的一種，所得知之資訊關係到整個家庭、家族成員，當篩檢出結果發覺無有效之醫學介入，此際，新生兒無法直接受益於篩檢之結果，但其資訊將助益於家庭成員就其健康及生涯規劃之選擇及安排時，父母親是否有權為相關的篩檢做同意？本文將以篩檢是否符合成本效益及是否存在有效之醫學介入等情事，以針對父母的決定權行使及限制之範疇為進一步之探討。再者，罕見疾病因其遺傳性與長期病程等特性，主管機關及民間社團可透過講座、團體互動及實務操作，提供病友及家屬更多元的專業知識，讓照顧的技巧、生活的品質因此而獲得具體的改善。 In the wonderful course of pregnancy, baby’s health is each parent’s greatest hope. More than 30,000 genes are passed down from one generation to another by the replication of DNA in the human body. If there are abnormal genes occurred or copied in the course of replication, it may bring defective genes to children and cause genetic rare disease. Since July 1st., 2001, the National Health Administration of the Executive Yuan proactively promotes “the second generation’s screening for newborn baby”, which analyzes various metabolism in human body through Tandem Mass Spectrometery. With only one drop of blood, this test can detect as many as 26 different kinds of metabolic disorder. Because the tested party is newborn babies, their parents’ prior consent is indispensable for this screening. Do parents have the right to agree such screening? This article will focus on exploring whether the benefit of the screening could meet the cost and whether medical treatment according to the screening outcome would be effective so as to assess the parents’ right of prior consent and its proper limit. Moreover, rare disease has genetic and long-term characters. Related authority and non-government organization can play an important role in offering various professional knowledge to patients and their family through lecture, group interaction and practice to improve their care skill and life quality.