Brain K, Sivell S, Bennert K, Howell L, France L, Jordan S, Rogers M T, Gray J, Sampson J
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Clin Genet. 2005 Sep;68(3):255-61. doi: 10.1111/j.1399-0004.2005.00491.x.
Most UK genetics centres offering predictive testing for hereditary non-polyposis colorectal cancer (HNPCC) use an extended counselling protocol originally developed for Huntington's disease. Shortened counselling may be more appropriate in the context of treatable genetic conditions such as HNPCC. Twenty-six high-risk individuals were randomized to extended genetic counselling (two sessions of education and reflection held 1 month apart) or shortened genetic counselling (a single educational session) prior to HNPCC testing. Prospective questionnaires, interviews and transcripts of counselling sessions were analysed. Participants were unsure what to expect prior to genetic counselling and had already decided to undergo genetic testing. There was no evidence of psychological harm caused by shortened genetic counselling, with a high level of satisfaction with the counselling received in both groups. Reflective counselling occurred in both groups but was framed in terms of practical action and information. Participants expressed differing preferences for the level of information received. This exploratory study indicates that shortened genetic counselling may be an appropriate means of supporting decisions already made by individuals about HNPCC testing. However, participants would benefit from preparatory information to help them reflect on issues not previously considered, which can then be explored more fully as part of a tailored counselling approach.
大多数为遗传性非息肉病性结直肠癌（HNPCC）提供预测性检测的英国遗传学中心，采用的是最初为亨廷顿舞蹈症制定的扩展咨询方案。对于像HNPCC这样可治疗的遗传疾病，缩短咨询可能更为合适。26名高危个体在进行HNPCC检测前，被随机分为接受扩展遗传咨询（相隔1个月进行两次教育和反思课程）或缩短遗传咨询（单次教育课程）。对前瞻性问卷、访谈以及咨询课程的文字记录进行了分析。参与者在接受遗传咨询前不确定会发生什么，且已决定接受基因检测。没有证据表明缩短遗传咨询会造成心理伤害，两组对所接受的咨询满意度都很高。两组都有反思性咨询，但都是围绕实际行动和信息展开。参与者对所获信息的程度表达了不同偏好。这项探索性研究表明，缩短遗传咨询可能是支持个体已做出的关于HNPCC检测决定的一种合适方式。然而，参与者会从准备性信息中受益，以帮助他们思考之前未考虑过的问题，这些问题随后可作为量身定制咨询方法的一部分得到更充分的探讨。
