Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing.
Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing.
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在美国促进安全有效的基因检测。
DOI：
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
Watson Ms
中科院分区：
文献类型：
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作者：
Holtzman Na;Watson Ms
尽管取得了显著进展，但基因检测的风险和益处仍有许多未知之处。目前还没有有效的干预措施来改善大多数遗传性疾病的结果;阴性检测结果可能不排除未来疾病的发生，阳性检测结果并不一定意味着疾病将不可避免地发展。鉴于这种不确定性，美国国家卫生研究院和能源部的人类基因组研究的伦理、法律的和社会影响工作组成立了基因检测工作组。该工作组由基因检测领域15个主要利益攸关方和5个参与检测的政府机构的代表组成，负责审查美国的基因检测，并提出建议，以确保开发安全有效的基因检测。在促进安全和有效的基因检测在美国，该工作组的成员提出了他们的研究结论。它们开始描述了基因检测的一般原则，包括知情同意、儿童检测、保密和歧视。它们说明了确保新的基因检测的安全性和有效性的方法和政策，包括开发检测的标准和确保遵守这些标准的方法。然后，他们讨论了如何确保进行基因检测的实验室的质量，包括实验室工作人员的作用和监测实验室工作的方法。他们展示了遗传学领域以外的医疗保健专业人员如何更好地理解基因检测的用途，并为这些专业人员的教育和培训提供了建议。最后，他们提供了对罕见遗传性遗传疾病的检测。工作组成员：Neil A. Holtzman，医学博士，M.P.H. * Michael S.沃森博士，F.A.C.M. G * Patricia A.巴尔 * 大卫R.医学博士考克斯，M.P.H. * 杰西卡·G戴维斯医学博士* 斯蒂芬岛古德曼医学博士理学硕士 * 韦恩W。Grody，医学博士，博士* 亚瑟湖Levin，医学博士* J.亚历山大洛登，医学博士，博士* 帕特里夏·D Murphy博士* Patricia J. Numan，医学博士* 维多利亚O. Odesina，R. N.，Sc.M.，M.S. * Nancy Press，博士* 凯瑟琳A.施耐德，公共卫生硕士。* 大卫B。歌手 * 史蒂文·古特曼，医学博士，* Muin J. Khoury，医学博士，博士* 大卫拉尼尔，医学博士* 琳达河* Jane S. Lin-Fu，医学博士
Despite remarkable progress, much remains unknown about the risks and benefits of genetic testing. No effective interventions are yet available to improve the outcome of most inherited diseases; negative test results might not rule out future occurrence of disease, and positive test results do not necessarily mean the disease will inevitably develop. In view of this uncertainty, the Working Group on Ethical, Legal, and Social Implications of Human Genome Research at the National Institutes of Health and Department of Energy created the Task Force on Genetic Testing. Comprising representatives of fifteen major stakeholders in genetic testing and five government agencies involved with testing, the task force was charged with reviewing genetic testing in the United States and making recommendations to ensure the development of safe and effective genetic tests. In Promoting Safe and Effective Genetic Testing in the United States the members of this task force present the conclusions of their study. They begin by describing general principles involved in genetic testing, including informed consent, testing of children, confidentiality, and discrimination. They describe methods and policies to ensure the safety and effectiveness of new genetic tests, including criteria for developing tests and ways of ensuring compliance with those criteria. They then discuss how to ensure the quality of laboratories that perform genetic tests, including the role of laboratory personnel and methods of monitoring laboratory performance. They show how health care professionals outside the field of genetics can better understand the uses of genetic testing, and offer suggestions for changes in these professionals' education and training. Finally, they offer a look at testing for rare inherited genetic disorders. Members of the Task Force: Neil A. Holtzman, M.D., M.P.H. * Michael S. Watson, Ph.D., F.A.C.M.G. * Patricia A. Barr * David R. Cox, M.D., M.P.H. * Jessica G. Davis, M.D. * Stephen I. Goodman, M.D., M.Sc. * Wayne W. Grody, M.D., Ph.D. * Arthur L. Levin, M.D. * J. Alexander Lowden, M.D., Ph.D. * Patricia D. Murphy, Ph.D. * Patricia J. Numan, M.D. * Victoria O. Odesina, R.N., Sc.M., M.S. * Nancy Press, Ph.D. * Katherine A. Schneider, M.P.H. * David B. Singer * Steven Gutman, M.D., * Muin J. Khoury, M.D., Ph.D. * David Lanier, M.D. * Linda R. Lebovic * Jane S. Lin-Fu, M.D.