遺傳檢測與諮詢的倫理議題與執業準則－罹病傾向之遺傳檢測：以BRCA檢驗為例

The Ethical Issues and Practice Guidelines for Genetic Testing and Counseling-Pre-dispositional Genetic Testing Focusing on BRCA Testing

蔡甫昌(Daniel Fu-Chang Tsai) ； 朱怡康(I-Kang Chu) ； 黃天祥(Tien-Shang Huang)

《Journal of Medical Education》 11卷1期 (2007/03) Pp. 69-88

https://doi.org/10.6145/jme.200703_11(1).0008

摘要

本文以BRCA檢驗為例，探討有關「罹病傾向之遺傳檢測與諮詢」所涉臨床情境、倫理議題與專業準則。作者首先呈現有關BRCA檢驗之基本醫學事實，並針對常見之臨床醫療決定與倫理問題進行分析，包括「乳癌基因檢驗對病患及家屬的利益」、「遺傳檢測諮詢的重要性」、「告知親屬遺傳資訊」、「孩童是否適合做BRCA基因檢驗」、「BRCA基因檢驗是否適用於產前診斷」、「可否不將檢驗結果納入病歷」。在回顧、歸納世界主流醫學團體與專業醫學會之報告書與執業倫理指引對上述議題之看法與建議之後，本文試擬出本土之「BRCA檢測與諮詢臨床執業倫理準則」(ethical guidelines for clinical practice)」，本準則已於臺大醫院內部進行討論修訂，之後將送國內相關專業醫學會作進一步之討論與確認。本研究期望透過廣泛之文獻回顧與倫理分析，為國內發展中之遺傳檢驗與諮詢服務，提供專業倫理之反思並建立實務工作之執業標準。

關鍵字

遺傳檢測 ； 遺傳諮詢 ； BRCA ； 倫理準則

並列摘要

This paper, using the example of BRCA genetic testing, examines clinical situations, ethical issues and professional guidelines that are of concern when carrying out pre-dispositional genetic testing and counseling. The authors firstly present basic medical knowledge about BRCA testing, then analyze the commonly encountered clinical decisions and ethical problems. These include ”the benefit of testing for the BRCA gene for the patient and the family”, ”the importance of genetic counseling”, ”informing the relatives”, ”should children be tested?”, ”should BRCA testing be carried out during the antenatal period?” and ”should the result not be included in the medical chart?”. After reviewing a range of ethics reports and practice guidelines produced by a number of major professional bodies throughout the world regarding the above issues, the authors propose a set of indigenous ethical guidelines for BRCA genetic testing and counseling. The guidelines have been discussed and revised by geneticists and ethicists from National Taiwan University Hospital and will be sent to the relevant professional body for review and recognition. It is hoped that through this research we can help readers to reflect on professional ethics and from these thoughts help to establish practice guidelines for BRCA genetic testing.

並列關鍵字

genetic testing ； genetic coumseling ； BRCA ； ethics guideline

參考文獻

(1987).The cancer and steroid hormone study of the centers for disease control and the National Institute of Child and Human Development: the reduction in risk of ovarian cancer associated with oral contraceptive use.N Engl J Med.316,650-655.

(1997).(American Cancer Society: Recommendations for Early Breast Cancer Detection).

(1999).(Human Genetics Society of Australasia: Guidelines for the Practice of Genetic Counseling).

(1998).The American Society of Human Genetics: Professional disclosure of familial genetic information.Am J Hum Genet.62,474-483.

(1998).The President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Biobehavioral Research: Screening and Counseling for Genetic Conditions: The Ethical, Social, and Legal Implications of Genetics Screening, Counseling and Education Programs.Washington, DC:US Government Printing Office.