Müller H J
Abteilung Humangenetik, Universitätskinderklinik und Forschungsgruppe Humangenetik, Kantonsspital Basel.
Schweiz Rundsch Med Prax. 1993 Jan 12;82(2):45-9.
A steadily growing number of genetic disorders or for predispositions disease can already be identified prior to their clinical manifestation. Gene technology has a considerable impetus on the development of presymptomatic or preclinical testing. Using familial cancer as a model it will be shown that persons at risk can be protected from the severe consequences of their genetic traits and can be counselled with certainty with respect to their family planning. However, such hopes are accompanied by fears that this type of genetic analysis will be performed without appropriate genetic counselling, without accepted medical practices or without the necessary quality control and that the results may be misinterpreted or misused by third parties. Informing the medical profession and the public about presymptomatic testing is the best way to prevent such negative consequences.
越来越多的遗传性疾病或疾病易感性在临床表现出现之前就已能够被识别。基因技术对症状前或临床前检测的发展起到了相当大的推动作用。以家族性癌症为例，将表明有风险的人可以免受其遗传特征带来的严重后果的影响，并且在计划生育方面能够得到确切的咨询。然而，这些希望伴随着一些担忧，即这种基因分析可能在没有适当的遗传咨询、没有公认的医疗实践或没有必要的质量控制的情况下进行，而且结果可能被第三方误解或滥用。向医学专业人员和公众宣传症状前检测是防止此类负面后果的最佳方式。
