{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T21:15:17Z","timestamp":1793481317368,"version":"4.5.0"},"reference-count":118,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","funder":[{"DOI":"10.13039\/100006474","name":"Columbia University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006474","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["TL1TR001875"],"award-info":[{"award-number":["TL1TR001875"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["5U01HG008680-04"],"award-info":[{"award-number":["5U01HG008680-04"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CJASN"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.2215\/cjn.15141219","type":"journal-article","created":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T16:15:13Z","timestamp":1594311313000},"page":"1497-1510","source":"Crossref","is-referenced-by-count":74,"title":["Clinical Genetic Screening in Adult Patients with Kidney Disease"],"prefix":"10.2215","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7532-956X","authenticated-orcid":false,"given":"Enrico","family":"Cocchi","sequence":"first","affiliation":[{"name":"Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University, New York, New York"},{"name":"Department of Pediatrics, Universita\u2019 degli Studi di Torino, Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1418-3103","authenticated-orcid":false,"given":"Jordan Gabriela","family":"Nestor","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali G.","family":"Gharavi","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University, New York, New York"},{"name":"Insititute of Genomic Medicine, Columbia University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2020,7,9]]},"reference":[{"issue":"Suppl 1","key":"B1-20230813","doi-asserted-by":"crossref","first-page":"A7","DOI":"10.1053\/j.ajkd.2019.01.001","article-title":"US renal data system 2018 annual data report: Epidemiology of kidney disease in the United States","volume":"73","author":"Saran","year":"2019","journal-title":"Am J Kidney Dis"},{"key":"B2-20230813","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic utility of exome sequencing for kidney disease","volume":"380","author":"Groopman","year":"2019","journal-title":"N Engl J Med"},{"key":"B3-20230813","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.2017121265","article-title":"Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract","volume":"29","author":"van der Ven","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"B4-20230813","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1159\/000436983","article-title":"The Irish kidney gene project--prevalence of family history in patients with kidney disease in Ireland","volume":"130","author":"Connaughton","year":"2015","journal-title":"Nephron"},{"key":"B5-20230813","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1373\/clinchem.2016.258632","article-title":"Is the $1000 genome as near as we think? 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