Featured Publications
Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
Franceschini N, Feldman D, Berg J, Besse W, Chang A, Dahl N, Gbadegesin R, Pollak M, Rasouly H, Smith R, Winkler C, Gharavi A, Group N, Ars E, Bekheirnia M, Bier L, Bleyer A, Fuller L, Halbritter J, Harris P, Kiryluk K, Knoers N, Kopp J, Kramer H, Lagas S, Lieske J, Lu W, Mannon R, Markowitz G, Moe O, Nadkarni G, Nast C, Parekh R, Pei Y, Reed K, Rehm H, Richards D, Roberts M, Sabatello M, Salant D, Sampson M, Sanna-Cherchi S, Santoriello D, Sedor J, Sneddon T, Watnick T, Wilfond B, Williams W, Wong C. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group. American Journal Of Kidney Diseases 2024 PMID: 39033956, DOI: 10.1053/j.ajkd.2024.05.010.Peer-Reviewed Original ResearchGenetic testingAllied health professionalsImplementation of genetic testingModified Delphi processChronic kidney diseaseScreening of kidney diseasesHealth professionalsWorking GroupKidney diseaseGenetic risk factorsDelphi processWorking group of expertsNational Kidney FoundationPolygenic causeDisease of multiple causesClinical decisionsRisk factorsGroup of expertsCause of kidney diseaseKidney FoundationGenetic basisMultiple causesGroup consensusGenetic causeMonogenic disorders
2022
A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology
Aron AW, Dahl NK, Besse W. A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology. Kidney360 2022, 3: 1640-1651. PMID: 36245662, PMCID: PMC9528385, DOI: 10.34067/kid.0007552021.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsClinical genetic testingGenetic testingIdentification of pathogenic variantsLimitations of genetic testingKidney-related disordersOut-of-pocket costsRisks of testingVariant nomenclatureProvider educationPathogenic variantsGene panelPatient's desireDiagnosis of kidney diseaseProvidersFollow-up investigationKidney diseaseDiagnostic utilityDiagnostic limitationsKidney disordersValuable diagnostic toolUnknown etiologyGenetic risk allelesUndetermined causeGuide managementDiagnosis