基因检测
医学
个性化医疗
精密医学
疾病
外显子组测序
基因组学
外显子组
生物信息学
重症监护医学
基因组
生物
遗传学
病理
基因
内科学
突变
作者
Brian K Lee,Christie P. Thomas
出处
期刊:Current Opinion in Nephrology and Hypertension
[Ovid Technologies (Wolters Kluwer)]
日期:2023-10-12
卷期号:33 (1): 4-12
标识
DOI:10.1097/mnh.0000000000000934
摘要
The aim of this study is to provide an overview of the role of genetic testing in the evaluation of kidney transplant candidates and living donors who may be at risk for heritable kidney disease. We focus our discussion on monogenic diseases, excluding renal diseases that have complex polygenic influences. Adoption of new technologies such as next-generation sequencing (NGS) with comprehensive gene panels has greatly enabled access to genetic testing recently; yet transplant professionals rarely receive adequate training in clinical genetics. In addition to a broad discussion of genetic testing, we hope to illustrate the thought processes and resources used in clinical genetic evaluation of recipient candidates and donors.Targeted renal genetic panels, whole exome and genome sequencing have greatly expanded our ability to test for pathogenic variants. Testing methods, analytic tools and the subsequent interpretation by the testing laboratory and treating physician impacts patient management and clinicians may lack the resources to practice in this new era of genomic medicine.The expansion of genomics into transplant medicine can provide improved diagnosis in transplant candidates and potentially disease prediction in living donors. Transplant professionals need to be familiar with emerging trends, promises and limitations of NGS-based testing.
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