Simpson S A, Harding A E
Aberdeen Royal Hospitals NHS Trust, Foresterhill, UK.
J Med Genet. 1993 Dec;30(12):1036-8. doi: 10.1136/jmg.30.12.1036.
The discovery of a mutation responsible for Huntington's disease (HD) offers the possibility of accurate predictive testing, as well as hope for treatment or prevention of this disease. We urge caution in the use of this new test as considerable ethical and counselling problems still exist, and new issues have arisen. The current guidelines for predictive testing should still apply, since it remains vital that subjects and their families have time to come to terms with the diagnosis of HD, and the implications of testing. Mutation analysis may allow the diagnosis of HD in isolated cases, or reverse a test result produced using linkage. Problems will arise as those at 25% risk may now receive a result despite the lack of support of their parent at 50% risk who may not wish to have their own status defined. In addition, couples who seek the exclusion test in pregnancy may find it difficult to investigate the pregnancy without producing information on themselves. Different centres should cooperate in maintaining the confidentiality of family members, ensuring that adequate counselling is given before results are produced which may affect the wider family.
亨廷顿舞蹈症(HD)致病突变的发现为进行准确的预测性检测带来了可能,也为治疗或预防这种疾病带来了希望。鉴于仍然存在大量伦理和咨询问题,且出现了新的问题,我们敦促在使用这项新检测时要谨慎。目前关于预测性检测的指导方针仍应适用,因为让受试者及其家人有时间接受HD诊断以及检测的影响仍然至关重要。突变分析可能有助于在个别病例中诊断HD,或推翻使用连锁分析得出的检测结果。当有25%患病风险的人现在可能会得到检测结果时,问题就会出现,尽管其50%患病风险的父母可能不希望确定自己的状况,不支持检测。此外,在孕期寻求排除检测的夫妇可能会发现,在不提供自身信息的情况下很难对胎儿进行检测。不同的中心应合作维护家庭成员的隐私,确保在得出可能影响更广泛家庭成员的结果之前提供充分的咨询。