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首页> 外文期刊>Seminars in Nephrology >Genetic testing: considerations for pediatric nephrologists.
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Genetic testing: considerations for pediatric nephrologists.

机译：基因检测：儿科肾脏病医生的注意事项。

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摘要

With the completion of the Human Genome Project and the associated advances in genomic technologies, clinicians have at their disposal an increasing repertoire of tools to provide accurate and efficient diagnosis, assess disease predisposition and risk factors, and personalize therapeutic management. To date, more than 2,000 human disease genes have been identified, including genes involved in single-gene disorders that disrupt the structure and/or function of the kidney and developing urinary tract. The use of genetic tests for diagnostic purposes increasingly is being integrated into general medical practice and therefore it is important for clinicians to be familiar with the technical approaches and ethical implications of these methods. Here, we provide an overview of the utility and limitations of current genetic tests for diagnosis, prenatal examination, carrier detection, and presymptomatic testing of hereditary disorders, with emphasis on pediatric renal disorders. In addition, we describe new technical advances that are expected to be introduced into clinical practice in the coming years.
机译：随着人类基因组计划的完成以及基因组技术的相关进步，临床医生可以使用越来越多的工具来提供准确有效的诊断，评估疾病易感性和危险因素以及个性化治疗管理。迄今为止，已经鉴定出2,000多种人类疾病基因，包括与破坏肾脏的结构和/或功能以及发展尿路的单基因疾病有关的基因。为了诊断目的而使用基因检测已越来越多地纳入一般医学实践，因此，对临床医生来说，熟悉这些方法的技术方法和伦理意义非常重要。在这里，我们概述了目前的遗传测试在遗传性疾病的诊断，产前检查，携带者检测和症状前测试中的效用和局限性，重点是小儿肾脏疾病。此外，我们描述了有望在未来几年引入临床实践的新技术进步。

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