Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
EPMA J. 2011 Jun;2(2):173-9. doi: 10.1007/s13167-011-0077-y. Epub 2011 May 6.
This article describes predictive, preventive value of genetic tests and the implication of the use of testing for personalized treatment. This year marks the 10th anniversity of publishing of the sequence of the human genome. One important area of application of this mega project is a development of genetic tests for mutation detection in single gene disorders that has impact for pediatric age group patients and analyzing susceptibility genes as risk factors in common disorders. Types of genetic tests, new emerging technologies will enable developments of high-throughput approaches by microarrays of great application capacity as described here. As it is usual for all technologies used in health care, bioethical concerns has to be delt with. The ethical, social and governance issues associated with genetic testing are discussed.
本文描述了基因检测的预测性和预防性价值，以及基因检测在个性化治疗中的应用意义。今年是人类基因组测序发布十周年。该超级项目的一个重要应用领域是开发用于单基因疾病突变检测的基因检测，这对儿科年龄段的患者有影响，并分析常见疾病的易感基因作为风险因素。基因检测类型，新出现的技术将通过微阵列等高通量方法的发展成为可能，正如这里所描述的。与所有用于医疗保健的技术一样，必须处理与之相关的生物伦理问题。本文讨论了与基因检测相关的伦理、社会和治理问题。
