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遗传性乳腺癌和卵巢癌的风险评估与遗传咨询:美国国家遗传咨询师协会的建议

Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

作者信息

Berliner Janice L, Fay Angela Musial

机构信息

Saint Barnabas Medical Center, 94 Old Short Hills Rd, Livingston, NJ 07039, USA.

出版信息

J Genet Couns. 2007 Jun;16(3):241-60. doi: 10.1007/s10897-007-9090-7. Epub 2007 May 17.

Abstract

These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without genetic susceptibility testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment as well as the professional expertise of genetic counselors with significant experience in education and counseling regarding hereditary breast and ovarian cancer. Critical components of the process include the ascertainment of medical and family histories, determination and communication of cancer risk, assessment of risk perception, education regarding the genetics of HBOC, discussion of molecular testing for HBOC if appropriate (including benefits, risks and limitations) and any necessary follow-up. These recommendations do not dictate an exclusive course of management or guarantee a specific outcome. Moreover, they do not replace the professional judgment of a health care provider based on the clinical situation of a client.

摘要

这些癌症遗传咨询建议描述了通过癌症风险评估(无论是否进行基因易感性检测)来识别遗传性乳腺癌和卵巢癌(HBOC)高危个体所涉及的医学、心理社会和伦理问题。它们由美国国家遗传咨询师协会家族性癌症风险咨询特别兴趣小组实践问题小组委员会的成员制定。本文件中的信息来源于对当前癌症遗传风险评估文献的广泛综述,以及在遗传性乳腺癌和卵巢癌教育与咨询方面具有丰富经验的遗传咨询师的专业知识。该过程的关键组成部分包括确定医学和家族病史、确定并告知癌症风险、评估风险认知、开展关于HBOC遗传学的教育、酌情讨论HBOC的分子检测(包括益处、风险和局限性)以及任何必要的后续跟进。这些建议并不规定唯一的管理方案,也不能保证特定的结果。此外,它们不能取代医疗服务提供者根据客户临床情况做出的专业判断。

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