Hens Kristien, Peeters Hilde, Dierickx Kris
Department of Philosophy, University of Antwerp, Stadscampus, Rodestraat 14, 2000 Antwerpen, Belgium.
Department of Human Genetics, KU Leuven, Belgium.
Eur J Med Genet. 2016 Sep;59(9):452-8. doi: 10.1016/j.ejmg.2016.08.007. Epub 2016 Aug 17.
The search for genes that can explain the development of autism is ongoing. At the same time, genetic counselling and genetic testing can be offered to families with a child diagnosed with autism. However, given the complexity of autism, both with respect to its aetiology as well as with respect to its heterogeneity, such genetic counselling and testing raises specific ethical questions regarding the aim and scope. In order to map these questions and opinions we interviewed 15 Belgian autism professionals. We found that they believed that genetic counselling and genetic testing have certain benefits for families confronted with an autism diagnosis, but also that direct benefit to the child is limited to those cases where a genetic finding offers a certain prognosis and intervention plan. In cases where autism is the result of a syndrome or a known genetic variant that is associated with other health problems, detection can also enable prevention of these health issues. Benefits of genetic testing, such as relief of guilt and reproductive choice, are primarily benefits to the parents, although indirectly they may affect the wellbeing of the person diagnosed. These benefits are associated with ethical questions.
对能够解释自闭症发病原因的基因的研究正在进行中。与此同时，可以为有自闭症患儿的家庭提供遗传咨询和基因检测。然而，鉴于自闭症在病因以及异质性方面的复杂性，这种遗传咨询和检测在目的和范围方面引发了特定的伦理问题。为了梳理这些问题和观点，我们采访了15位比利时自闭症领域的专业人士。我们发现，他们认为遗传咨询和基因检测对面临自闭症诊断的家庭有一定益处，但对孩子的直接益处仅限于基因检测结果能提供某种预后和干预方案的情况。在自闭症是由某种综合征或与其他健康问题相关的已知基因变异导致的情况下，检测也能够预防这些健康问题。基因检测的益处，如减轻负罪感和生殖选择，主要是对父母有益，尽管它们可能会间接影响被诊断者的幸福。这些益处与伦理问题相关。
