Expanded accessibility of genetic sequencing technologies, such as chromosomal microarray and massively parallel sequencing approaches, is changing the management of hereditary kidney diseases. Genetic causes account for a substantial proportion of pediatric kidney disease cases, and with increased utilization of diagnostic genetic testing in nephrology, they are now also detected at appreciable frequencies in adult populations. Establishing a molecular diagnosis can have many potential benefits for patient care, such as guiding treatment, familial testing, and providing deeper insights on the molecular pathogenesis of kidney diseases. Today, with wider clinical use of genetic testing as part of the diagnostic evaluation, nephrologists have the challenging task of selecting the most suitable genetic test for each patient, and then applying the results into the appropriate clinical contexts. This review is intended to familiarize nephrologists with the various technical, logistical, and ethical considerations accompanying the increasing utilization of genetic testing in nephrology care.

Clinical Genetic Screening in Adult Patients with Kidney Disease

Cocchi, Enrico;
2020-01-01

Abstract

Expanded accessibility of genetic sequencing technologies, such as chromosomal microarray and massively parallel sequencing approaches, is changing the management of hereditary kidney diseases. Genetic causes account for a substantial proportion of pediatric kidney disease cases, and with increased utilization of diagnostic genetic testing in nephrology, they are now also detected at appreciable frequencies in adult populations. Establishing a molecular diagnosis can have many potential benefits for patient care, such as guiding treatment, familial testing, and providing deeper insights on the molecular pathogenesis of kidney diseases. Today, with wider clinical use of genetic testing as part of the diagnostic evaluation, nephrologists have the challenging task of selecting the most suitable genetic test for each patient, and then applying the results into the appropriate clinical contexts. This review is intended to familiarize nephrologists with the various technical, logistical, and ethical considerations accompanying the increasing utilization of genetic testing in nephrology care.
2020
15
10
1497
1510
CGH array; Chronic; Genetic Testing; High-Throughput Nucleotide Sequencing; Kidney Genomics Series; Patient Care; Renal Insufficiency; Sanger sequencing; array techniques; chronic kidney disease; familial kidney disease; familial nephropathy; genetic renal disease; genetics; genomics; human genetic testing; human genetics; kidney disease; massive parallel sequencing; medical genetics; microarray techniques; nephrology; referral and consultation; translations; whole exome sequencing; whole genome sequencing
Cocchi, Enrico; Nestor, Jordan Gabriela; Gharavi, Ali G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1885783
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