Petersen G M, Boyd P A
Department of Epidemiology, Johns Hopkins School of Hygiene and Public Health, Baltimore, Md, USA.
J Natl Cancer Inst Monogr. 1995(17):67-71.
Familial adenomatous polyposis (FAP) is a well-defined, inherited colorectal cancer syndrome due to mutations in the APC gene. Genetic counseling and predictive gene tests for FAP will likely be incorporated as a first step in risk assessment for this condition. Our experience with predictive gene testing for FAP sheds important light on the impact of such tests for families at risk for FAP or colorectal cancer. We counseled and tested 47 adults and 36 minors at risk for FAP. Gene test results changed the risk of FAP for a given individual from a priori 50% to essentially zero or 100%. These individuals and their family members were interviewed before and after disclosures of APC gene test results to examine issues related to patients' knowledge about FAP, risk perception, reasons for seeking gene testing, and anticipated meaning of the results. We found that the gene test is imbued with meaning beyond determination of gene status in families who choose gene testing. The at-risk patient has preformed, well-entrenched conceptions of what having FAP or colorectal cancer entails, and family relationships and identity may be strongly linked with disease or gene status. We have found that genetic testing of minors requires additional counseling considerations and effort to ensure their understanding of FAP and the gene test. Importantly, their understanding of the clinical and social meaning of the gene test result must be elicited. For all patients, the value of counseling includes reduction of uncertainty and adjustment of misperceptions. Genetic counseling guidelines for this emerging clinical service are presented.
家族性腺瘤性息肉病(FAP)是一种明确的遗传性结直肠癌综合征,由APC基因突变引起。FAP的遗传咨询和预测性基因检测可能会作为这种疾病风险评估的第一步被纳入。我们对FAP预测性基因检测的经验为这类检测对有FAP或结直肠癌风险的家庭的影响提供了重要启示。我们为47名成年和36名未成年有FAP风险的人提供了咨询并进行了检测。基因检测结果将特定个体患FAP的风险从先验的50%改变为基本为零或100%。在披露APC基因检测结果前后,对这些个体及其家庭成员进行了访谈,以探讨与患者对FAP的了解、风险认知、寻求基因检测的原因以及结果的预期意义相关的问题。我们发现,对于选择基因检测的家庭来说,基因检测所蕴含的意义超出了基因状态的判定。有风险的患者对患FAP或结直肠癌意味着什么已经有了既定的、根深蒂固的观念,家庭关系和身份可能与疾病或基因状态紧密相连。我们发现,对未成年人进行基因检测需要额外的咨询考量和努力,以确保他们理解FAP和基因检测。重要的是,必须了解他们对基因检测结果临床和社会意义的理解。对于所有患者来说,咨询的价值包括减少不确定性和纠正错误认知。本文提出了针对这项新兴临床服务的遗传咨询指南。