Trepanier Angela, Ahrens Mary, McKinnon Wendy, Peters June, Stopfer Jill, Grumet Sherry Campbell, Manley Susan, Culver Julie O, Acton Ronald, Larsen-Haidle Joy, Correia Lori Ann, Bennett Robin, Pettersen Barbara, Ferlita Terri Diamond, Costalas Josephine Wagner, Hunt Katherine, Donlon Susan, Skrzynia Cecile, Farrell Carolyn, Callif-Daley Faith, Vockley Catherine Walsh
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Wayne State University, Detroit, Michigan, USA.
J Genet Couns. 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77.
These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through 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 Cancer Genetic 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. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. 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描述了通过癌症风险评估(无论是否进行基因检测)来识别高危个体所带来的医学、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癌症遗传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。关键组成部分包括接诊(病史和家族史)、心理社会评估(风险认知评估)、癌症风险评估(风险的确定和告知)、遗传性癌症综合征的分子检测(法规、知情同意和咨询过程)以及后续考虑因素。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。