Expanded accessibility ofgenetic sequencing technologies, suchas 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 foreach patient,andthenapplying the results intothe 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.
Cocchi E., Nestor J.G., Gharavi A.G. (2020). Clinical genetic screening in adult patients with kidney disease. CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 15(10), 1497-1510 [10.2215/CJN.15141219].
Clinical genetic screening in adult patients with kidney disease
Cocchi E.Primo
;
2020
Abstract
Expanded accessibility ofgenetic sequencing technologies, suchas 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 foreach patient,andthenapplying the results intothe 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.