Towards precision nephrology: the opportunities and challenges of genomic medicine.

Abstract:

: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.

journal_name

J Nephrol

journal_title

Journal of nephrology

authors

Nestor JG,Groopman EE,Gharavi AG

doi

10.1007/s40620-017-0448-0

subject

Has Abstract

pub_date

2018-02-01 00:00:00

pages

47-60

issue

1

eissn

1121-8428

issn

1724-6059

pii

10.1007/s40620-017-0448-0

journal_volume

31

pub_type

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