蔡甫昌2006-07-262018-07-112006-07-262018-07-112003http://ntur.lib.ntu.edu.tw//handle/246246/25671隨著現代基因科技的快速進展，遺傳疾病的診斷(diagnosis)─包括篩檢 （genetic screening）與檢驗(testing)─已經在現代醫療執業與醫病互動過程 中扮演越來越重要的角色，「遺傳諮商(genetic counseling)」也在歐美先進 國家逐漸發展成一門醫學專業有年。遺傳診斷一方面使個人及家屬得以掌握 切身相關的基因及健康資訊，另一方面也帶來許多棘手的問題，例如檢驗結 果的告知(information disclosure)、遺傳資訊的獲得（access to the information）、遺傳資訊與生殖權利(reproductive right)的交互影響、醫護人 員、病患或其親屬如何根據檢驗結果做出相關後續醫療抉擇… 等，這些臨床 倫理問題不僅關乎病人及家屬的權益，也考驗著一個社會中醫療專業其「人 性化照顧」與對「醫療人權」重視的成熟度，更是社會整體醫療保健政策不 能忽略的問題。 基因診斷技術的應用可以隨施行檢驗的對象、時機、目的之不同而分為 婚前診斷、孕前診斷、產前診斷、新生兒診斷、帶原者檢驗、職場上的應用 等，它們引起的倫理問題則有所大小與異同。檢驗疾病的性質與結果更是與 遺傳諮商過程中，醫病雙方可能面臨的倫理難題息息相關(例如唐氏症、唇 顎裂與杭廷頓舞蹈症遺傳檢驗的陽性結果，可能對醫病雙方之意義大有不 同)。本研究原訂三年完成，主要目標及工作在於： (1) 探討應用遺傳診斷技術的各種醫療情境中，醫病互動之過程中可能 遭遇的各種醫學倫理問題，將以文獻回顧與專家會議的方式進行，期能清晰 地呈現議題。 (2) 進一步界定、定義出這些問題在倫理學與哲學上的爭議焦點，對例 如胎兒生命權、生殖自主(reproductive freedom)、錯誤的生命(wrongful life) 等概念進行分析與討論。 (3) 應用生命倫理方法的理論「原則主義」，來嘗試建立其相因應之「遺 傳諮商的倫理原則與規則」，同時參考、彙整國外主要醫學與生命倫理專業 團體有關遺傳諮商的倫理守則。 (4) 將此發展為「機構性執業倫理準則(Institutional ethical practice guidelines)」，回歸應用於實際遺傳諮商情境中，並以臺大醫院院內之臨床 醫護人員之遺傳諮商服務機會與經驗來測試其適用性，並檢討改進之。同時 建立「機構倫理」之擬定經驗與建置模式。 (5) 同時建立「生命倫理理論」與「臨床倫理」、「理論」與「實務」 之間的「反思平衡(reflective equilibrium)」操作模式。 本報告係對第一年研究成果進行報告，亦即就前述第(1)、(2)項工作及其 成果做說明。The rapid development of genetic technology has created many new facets of modern medical practice which urged the medical profession to move beyond its traditional ways of medical service providing. The medical information acquired from genetic diagnosis is by no means easy to handle for both health care providers and patients, and the application of such information involves a variety of ethical, legal and psychosocial issues, of which the implication and impact should be carefully examined. Genetic counseling has therefore become a crucial process in the performing, the disclosing, and subsequent disposition of a genetic diagnosis. It will therefore, for pragmatic reasons, be beneficial to provide clearly delineated ethical principles and rules in accordance with specific clinical ethical dilemmas in assisting the process of genetic counseling. This research is designed to be completed in three years. In the first year, we: (1) Investigate, define, and categorize the commonly encountered ethical problems in the process of performing genetic diagnosis and genetic counseling, specifically in the Taiwanese context, through literature review, focus group interview, and expert meetings. (2) Articulate the fundamental ethical and philosophical debates of these problems, and explore into these ethical concepts such as ‘the fetus’ right to life’, ‘confidentiality of genetic information’, ‘patients’ autonomy’ and etc. So far we have taken a stepwise approach and finished the works as follows: 1.Literature review on topics concerning genetic counseling ethics, ethical guidelines of genetic services, genetic testing/screening ethics, directive/ nondirective genetic counseling, wrongful life, and confidentiality of genetic information. We intend to delineate a framework and classification of the ethical issues arising from genetic counseling firstly through reference review. 2.As a pilot study, we have interviewed 10 medical professionals who specialize in and practice genetic medicine in the field of obstetrician/gynecology, pediatrics, neurology, genomic medicine, internal medicine, psychiatry, and nursing with an open-ended questionnaire to verify the ethical-legal issues encountered in their daily genetic practice. With such information we can vindicate the primary, major and specific ethical issues and dilemmas confronting Taiwanese medical practitioners and consultants. 3.Exploring the philosophical questions of “the wrongfulness of wrongful life” and “genetic enhancement”. 4.Setting up the paradigm cases concerning ethics in genetic counseling using a scenario-approach. Next step, we will continue establishing scenarios and classic cases, analyzing the moral issues involved, exploring the corresponding ethical principles and rules, and discussing and recommending the resolving strategies. At the same time, we will continue reviewing and translating the reports and guidelines on genetic counseling from the world principal medical associations and advisory committees on bioethics, including WHO, ASHG, AMA, BMA, CMA, etc.application/pdf413406 bytesapplication/pdfzh-TW國立臺灣大學醫學院社會醫學科遺傳診斷遺傳檢驗遺傳篩檢遺傳諮商基因治療生命倫理原則主義墮胎genetic diagnosisgenetic screeninggenetic testinggenetic counselinggene therapybioethicsprinciplismabortionjournal articlehttp://ntur.lib.ntu.edu.tw/bitstream/246246/25671/1/913112H002004.pdf