Janssens Sandra, Kalokairinou Louiza, Chokoshvilli Davit, Binst Carmen, Mahieu Inge, Henneman Lidewij, De Paepe Anne, Borry Pascal
Centre for Medical Genetics, Ghent University Hospital, Ghent, De Pintelaan 185, 9000 Ghent, Belgium.
Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001 3000 Leuven, Belgium.
Per Med. 2015 Mar;12(2):99-107. doi: 10.2217/pme.14.75.
An increasing number of direct-to-consumer (DTC) genetic testing companies have started offering tests for carrier status of autosomal recessive disorders.
MATERIALS & METHODS: A written questionnaire was administered to 47 patients and 65 parents of children with Cystic Fibrosis (CF), a common severe autosomal recessive disorder, to assess their views about the offer of DTC carrier tests. All participants were recruited from a CF patient registry in Belgium.
RESULTS & CONCLUSION: We found that very few patients and parents were aware of the offer of DTC genetic testing for carrier status, and were generally skeptical. A strong preference for the healthcare system over commercial companies as the provider of the test was observed. However, many participants believe people should have a right to access DTC genetic tests provided by commercial companies.
越来越多的直接面向消费者（DTC）基因检测公司开始提供常染色体隐性疾病携带者状态检测。
对47名囊性纤维化（CF）患者及65名CF患儿的父母进行问卷调查，CF是一种常见的严重常染色体隐性疾病，旨在评估他们对DTC携带者检测服务的看法。所有参与者均从比利时的CF患者登记处招募。
我们发现，很少有患者和父母知晓DTC基因携带者状态检测服务，且普遍持怀疑态度。研究观察到，相较于商业公司，人们强烈倾向于由医疗保健系统提供检测服务。然而，许多参与者认为人们有权获得商业公司提供的DTC基因检测服务。
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