Riley Bronson D, Culver Julie O, Skrzynia Cécile, Senter Leigha A, Peters June A, Costalas Josephine W, Callif-Daley Faith, Grumet Sherry C, Hunt Katherine S, Nagy Rebecca S, McKinnon Wendy C, Petrucelli Nancie M, Bennett Robin L, Trepanier Angela M
Southeast Nebraska Cancer Center, Lincoln, NE, USA.
J Genet Couns. 2012 Apr;21(2):151-61. doi: 10.1007/s10897-011-9462-x. Epub 2011 Dec 2.
Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic 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 and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.
这些癌症遗传咨询建议是在2004年首次发布的基础上更新而来，阐述了通过进行或不进行基因检测的癌症遗传风险评估，为高危个体提供咨询所涉及的医学、心理社会和伦理方面的影响。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关于癌症遗传风险评估和咨询的文献的广泛回顾，以及专门从事癌症遗传学的遗传咨询师的个人专业知识。这些建议旨在提供有关遗传性癌症疾病的遗传咨询和风险评估过程的信息，而非关于个别综合征的具体信息。基本组成部分包括接诊、癌症风险评估、遗传性癌症综合征的基因检测、知情同意、基因检测结果的披露以及心理社会评估。这些建议不应被理解为规定了唯一的管理方案，使用这些建议也不能保证特定的结果。这些建议并不取代医疗保健提供者基于客户临床情况的专业判断。
