Borry Pascal, Goffin Tom, Nys Herman, Dierickx Kris
the Centre for Biomedical Ethics and Law, KU Leuven, Belgium.
Am J Med Genet C Semin Med Genet. 2008 Feb 15;148C(1):78-83. doi: 10.1002/ajmg.c.30165.
The aim of this study is to gather information from European clinical geneticists about their practices and attitudes with regard to presymptomatic and predictive genetic testing in minors. European clinical institutes where genetic counseling is offered to patients were contacted. One hundred seventy-seven of the 287 eligible respondents (63%) answered a questionnaire. There was strongest support for testing young children when it provides a clear medical benefit, such as in the case of FAP and MEN2A. However, there is disagreement about when to provide predictive genetic testing for childhood-onset disorders for which therapeutic or preventive measures exist with some supporting the rule of earliest onset and others giving parents wider discretion. However, for childhood-onset disorders that do not have therapeutic measures, the majority of the respondents is unwilling to provide a presymptomatic or predictive genetic test. With respect to adolescents, many held a cautious position regarding presymptomatic and predictive genetic testing. Most clinical geneticists were unwilling to provide a presymptomatic or predictive genetic test for adult-onset diseases, except if it might provide a medical benefit. Although adolescents might be legally in the position to request a presymptomatic or predictive genetic test personally, the clinical geneticists are significantly more willing to provide a test if this request is made together with the minor's parents. This variability demonstrates the need for clinical geneticists to discuss their contradicting views and to develop harmonized practices throughout Europe.
本研究的目的是收集欧洲临床遗传学家关于他们对未成年人进行症状前和预测性基因检测的实践及态度的信息。研究联系了为患者提供遗传咨询的欧洲临床机构。287名符合条件的受访者中有177人（63%）回答了问卷。当检测能带来明确的医疗益处时，比如在家族性腺瘤性息肉病（FAP）和多发性内分泌腺瘤2型A（MEN2A）的情况下，对检测幼儿的支持最为强烈。然而，对于存在治疗或预防措施的儿童期发病疾病，在何时提供预测性基因检测方面存在分歧，一些人支持最早发病原则，另一些人则给予父母更广泛的决定权。然而，对于没有治疗措施的儿童期发病疾病，大多数受访者不愿意进行症状前或预测性基因检测。对于青少年，许多人在症状前和预测性基因检测方面持谨慎态度。大多数临床遗传学家不愿意为成人期发病疾病进行症状前或预测性基因检测，除非可能带来医疗益处。尽管青少年在法律上可能有能力亲自要求进行症状前或预测性基因检测，但如果该请求是与未成年人的父母一起提出的，临床遗传学家更愿意提供检测。这种差异表明临床遗传学家需要讨论他们相互矛盾的观点，并在整个欧洲制定统一的做法。
