蔡甫昌2006-07-262018-07-112006-07-262018-07-112004http://ntur.lib.ntu.edu.tw//handle/246246/25674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。 本報告主要針對第二年研究成果進行報告。The meaning and impact of genetic information derived from the process of genetic testing are frequently different from that of other kinds of medical laboratory tests. Such results constantly concern individuals as well as the family, and are relevant to current and future diseases that many of them have no effective cure. Genetic counseling hence is very important in the process of performing genetic testing, disclosing the result to the patients or families, and the subsequent disposition of such outcomes. 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 two years, we have 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 have delineated, tentatively, a framework and classification of the ethical issues arising from genetic counseling firstly through extensive study. 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, nursing, and genetic counseling with an open-ended questionnaire to verify the ethical-legal issues encountered in their daily genetic practice as well as the current situation of genetic practice and counseling in Taiwan. With such information we have vindicated the primary, major, and specific ethical issues and dilemmas confronting Taiwanese medical practitioners and genetic counselors. 3. We have explored into the philosophical questions concerning “the wrongfulness of wrongful life” and “genetic enhancement”. We also focused on examining the works of the leading British philosopher and bioethicist, John Harris, and his theories and arguments on genetic testing, genetic screening, the moral status of human embryos and fetus, gender selection, human sources, etc., with a view to deepen our reflection on the fundamental philosophical themes that are closely relevant to the ethical dilemmas arising from genetic counseling and medical decisions confronting patients, families, and genetic practitioners. 4. Based on the result of our interviews, we have developed about 25 paradigmatic cases concerning ethics in genetic counseling. “A scenario-approach to genetic counseling ethics” using classic, common and typical cases is now under construction. 5. We also have collected reports and guidelines of genetic counseling published by world major professional associations. Many of them are translated or summarized. These ethical guidelines are useful for our developing concrete and indigenous ethical guidelines and rules. In the final year, 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. We will draft guidelines or recommendations on genetic testing and counseling. This case based ethical principles and rules will be discussed and revised with genetic professionals and counselors to establish institutional ethical guidelines for genetic testing and counseling.application/pdf319190 bytesapplication/pdfzh-TW國立臺灣大學醫學院社會醫學科genetic diagnosisgenetic screeninggenetic testinggenetic counselinggene therapybioethicsprinciplismpabortion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[SDGs]SDG3journal articlehttp://ntur.lib.ntu.edu.tw/bitstream/246246/25674/1/923112H002006.pdf