Towards precision nephrology: the opportunities and challenges of genomic medicine

被引：13

作者：

Nestor, Jordan G. ^{[1
]}

Groopman, Emily E. ^{[1
]}

Gharavi, Ali G. ^{[1
]}

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Med, Div Nephrol, 1150 St Nicholas Ave,Room 413, New York, NY 10032 USA

来源：

JOURNAL OF NEPHROLOGY | 2018年 / 31卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Next generation sequencing; Nephrology; Return of results; Variant interpretation; Genetic testing; Copy number variants; REPORTING INCIDENTAL FINDINGS; WHOLE-GENOME; CONGENITAL-ANOMALIES; WIDE ASSOCIATION; RECESSIVE MUTATIONS; KIDNEY-DISEASE; CLINICAL EXOME; ACMG RECOMMENDATIONS; NEPHROTIC SYNDROME; PATIENT AUTONOMY;

D O I：

10.1007/s40620-017-0448-0

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.

引用

页码：47 / 60

页数：14

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