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

10.6145/jme.200703_11(1).0008

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

遺傳檢測 ； 遺傳諮詢 ； BRCA ； 倫理準則 ； genetic testing ； genetic coumseling ； BRCA ； ethics guideline

Journal of Medical Education

11卷1期（2007 / 03 / 01）

69 - 88

繁體中文

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。

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.

1. (1998).The American Society of Human Genetics: Professional disclosure of familial genetic information.Am J Hum Genet,62,474-483.
2. (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.
3. (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.
4. (1997).American Cancer Society: Recommendations for Early Breast Cancer Detection.
5. Health Insurance Portability and Accountability Act of 1996-Administrative Simplification
6. (1994).Institute of Medicine Committee on Assessing Genetic Risks: Assessing Genetic Risks: Implications for Health and Social Policy.Washington, DC:National Academy Press.
7. (1999).Human Genetics Society of Australasia: Guidelines for the Practice of Genetic Counseling.
8. British Medical Association: Confidentiality and Disclosure of Health Information: Examples of Disclosure in the Public Interest
9. Advisory Committee on Genetic Testing(1998).Report on Genetic Testing for Late Onset Disorders.
10. Advisory Committee on Genetic Testing(2000).Prenatal Genetic Testing: Report for Consultation.
11. Genetic Discrimination
12. Ethical Issues in Genetic Testing for BRCA1 and BRCA2
13. Post-Test Confidentiality
14. American Medical Association(1996).Code of Medical Ethics.E-2.135 Insurance Companies and Genetic Information.
15. American Medical Association(1994).Code of Medical Ethics.E-5.05 Confidentiality.
16. American Society of Clinical Oncology(2003).American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.J Clin Oncol,21,2397-2406.
17. Association of British Insurers(1999).Genetic Testing Code of Practice.
18. British Society for Human Genetics(1998).Statement on Genetics and Life Insurance.
19. Burke W,Daly M,Garber J(1997).Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2 cancer genetics studies consortium.J Am Med Assoc,277,997-1003.
20. Clinical Genetics Society(1994).The Genetic Testing of Children: Report of a Working Party of the Clinical Genetics Society.
21. Cobben JM,Brocker-Vriends AH,Leschot NJ(2002).Prenatal diagnosis for hereditary predisposition to mammary and ovarian carcinoma-defining a position.Ned Tijdschr Geneeskd,146,1461-1465.
22. Council on Scientific Affairs(1999).Mammographic Screening for Asymptomatic Women: Report No. 16..
23. de Wert G(1996).Ethics of predictive DNA-testing for hereditary breast and ovarian cancer.Obstet Gynecol,87,306-309.
24. de Wert G,ter Meulen R,Mordacci R(2003).Ethics and Genetics: A Workbook for Practitioners and Students.NY:Berghahn Books.
25. Early Breast Cancer Trialists'' Collaborative Group(1998).Tamoxifen for early breast cancer: an overview of the randomised trial.Lancet,351,1451-1467.
26. European Society of Human Genetics(2003).Provision of Genetic Services in Europe: Current Practices and Issues.
27. European Society of Human Genetics(2000).Genetic Information and Testing in Insurance and Employment: Technical.Social and Ethical Issues
28. Feuer EJ,Wun LM,Boring CC(1993).The lifetime risk of developing breast cancer.J Natl Cancer Inst,85,892-897.
29. Fisher B,Costantino JP,Wickerham DL(1998).Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 study.J Natl Cancer Inst,90,1371-1388.
30. Hartmann LC,Schaid D,Sellers T(2000).Bilateral prophylactic mastectomy (PM) in BRCA1/2 mutations carriers.Proc Am Assoc Canc Res,41,222-223.
31. Lerman C,Narod S,Schulman K(1996).BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes.J Am Med Assoc,275,1885-1892.
32. Markman M(2004).Genetic discrimination arising from cancer risk assessments: a societal dilemma.Cleve Clin J Med,71,12-18.
33. McKinnon WC,Baty BJ,Bennett RL(1997).Predisposition genetic testing for late-onset disorders in adults: a position paper of the National Society of Genetic Counselors.J Am Med Assoc,278,1217-1220.
34. Meijers-Heijboer H,van Geel B,van Putten WLJ(2001).Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation.N Engl J Med,345,159-164.
35. NIH consensus conference: Ovarian cancer(1995).Screening, treatment and follow-up. NIH consensus development panel on ovarian cancer.J Am Med Assoc,273,491-497.
36. Robson ME(2002).Clinical considerations in the management of individuals at risk for hereditary breast and ovarian cancer.Cancer Control,9,457-465.
37. Schrag D,Kuntz KM,Garber J(2000).Life expectancy gains from cancer prevention strategies for women with breast cancer and BRCA1 and BRCA2 mutations.J Am Med Assoc,283,617-624.
38. the New York State Department of Health: Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines
39. The American Society of Human Genetics(1995).The American College of Medical Genetics: ASHG/ ACMG Report: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.Am J Hum Genet,57,1233-1241.
40. The International Federation of Gynecology and Obstetrics(2003).Ethical aspects of termination of pregnancy following prenatal diagnosis, 1991. In: The International Federation of Gynecology and Obstetrics, ed: Recommendations on Ethical Issues in Obstetrics and Gynecology by the FIGO Committee for the Ethical Aspects of Human Reproduction and Women's Health.London:FIGO.
41. The International Federation of Gynecology and Obstetrics(ed)(2003).Recommendations on Ethical Issues in Obstetrics and Gynecology by the FIGO Committee for the Ethical Aspects of Human Reproduction and Women's Health.London:FIGO.
42. Ursin G,Li C,Pike MC(2000).Shouldwomenwith a family history of breast cancer avoid use of oral contraceptives.Epidemiology,11,615-616.
43. Weber BL,Punzalan C,Eisen A(2000).Ovarian cancer risk reduction after bilateral prophylactic oophorectomy (BPO) in BRCA1 and BRCA2 mutation carriers.Am J Hum Genet,67(2),59.
44. Wertz DC,Fletcher JC,Berg K(2003).Review of Ethical Issues in Medical Genetics: Report of Consultants to WHO.
45. World Health Organization(1997).Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Service.Geneva:World Health Organization.
46. 衛生署癌症登記年報
47. 蘇怡寧(2002)。乳癌之BRCA1/BRCA2之基因分析。台灣醫學，6，706-713。

1. 陳秋慧(2015)。乳癌基因檢測之臨床應用與倫理考量。腫瘤護理雜誌，15(增訂刊)，15-30。
2. 陳俞沛、林建智、林秀娟(2012)。遺傳疾病病患隱私與親屬利益衝突之倫理法制探討。東吳法律學報，24(2)，35-81。
3. 王瑤華(2017)。遺傳疾病對護理的衝擊及挑戰。護理雜誌，64(5)，24-29。