About 37 million people in the United States have chronic kidney disease, a disease that encompasses multiple causes. About 10% or more of kidney diseases in adults and as many as 70% of selected chronic kidney diseases in children are expected to be explained by genetic causes. Despite the advances in genetic testing and an increasing understanding of the genetic bases of certain kidney diseases, genetic testing in nephrology lags behind other medical fields. More understanding of the benefits and logistics of genetic testing is needed to advance the implementation of genetic testing in chronic kidney diseases. Accordingly, the National Kidney Foundation convened a Working Group of experts with diverse expertise in genetics, nephrology, and allied fields to develop recommendations for genetic testing for monogenic disorders and to identify genetic risk factors for oligogenic and polygenic causes of kidney diseases. Algorithms for clinical decision making on genetic testing and a road map for advancing genetic testing in kidney diseases were generated. An important aspect of this initiative was the use of a modified Delphi process to reach group consensus on the recommendations. The recommendations and resources described herein provide support to nephrologists and allied health professionals to advance the use of genetic testing for diagnosis and screening of kidney diseases.

中文翻译：

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推进肾脏疾病的基因检测：来自美国国家肾脏基金会工作组的报告


美国约有 3700 万人患有慢性肾病，这种疾病包括多种原因。预计大约 10% 或更多的成人肾脏疾病和多达 70% 的特定儿童慢性肾脏疾病是由遗传原因解释的。尽管基因检测取得了进步，并且对某些肾脏疾病的遗传基础的了解越来越多，但肾脏病学的基因检测落后于其他医学领域。需要更多地了解基因检测的好处和后勤工作，以推进基因检测在慢性肾脏病中的实施。因此，美国国家肾脏基金会召集了一个由在遗传学、肾脏病学和相关领域具有不同专业知识的专家组成的工作组，为单基因疾病的基因检测提出建议，并确定肾脏疾病寡基因和多基因原因的遗传风险因素。生成了基因检测临床决策算法和推进肾脏疾病基因检测的路线图。该计划的一个重要方面是使用修改后的 Delphi 流程来就建议达成小组共识。本文描述的建议和资源为肾脏科医生和专职医疗专业人员提供支持，以推进使用基因检测来诊断和筛查肾脏疾病。