Am J Kidney Dis. 2024 Dec;84(6):751-766. doi: 10.1053/j.ajkd.2024.05.010. Epub 2024 Jul 19.
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.
在美国,大约有 3700 万人患有慢性肾病,这种疾病有多种病因。在成年人中,约 10%或更多的肾脏疾病和多达 70%的选定儿童慢性肾病预计将由遗传原因引起。尽管遗传测试取得了进展,对某些肾脏疾病遗传基础的认识也在不断提高,但肾脏病学中的遗传测试仍落后于其他医学领域。为了推进遗传测试在慢性肾病中的应用,需要更多地了解遗传测试的益处和实施的具体情况。为此,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,制定了用于单基因疾病遗传测试的建议,并确定了肾脏疾病多基因和多基因病因的遗传风险因素。还制定了用于遗传测试临床决策的算法和推进肾脏病学遗传测试的路线图。该倡议的一个重要方面是使用改良 Delphi 流程就建议达成小组共识。本文所述的建议和资源为肾脏病学家和相关医疗保健专业人员提供支持,以推进遗传测试在肾脏疾病的诊断和筛查中的应用。