2023
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease
Dahl N, Bloom M, Chebib F, Clark D, Westemeyer M, Jandeska S, Zhang Z, Milo-Rasouly H, Kolupaeva V, Marasa M, Broumand V, Fatica R, Raj D, Demko Z, Marshall K, Punj S, Tabriziani H, Bhorade S, Gharavi A. The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease. Journal Of The American Society Of Nephrology 2023, 34: 2039-2050. PMID: 37794564, PMCID: PMC10703084, DOI: 10.1681/asn.0000000000000249.Peer-Reviewed Original ResearchConceptsPositive genetic findingsCKD diagnosisGenetic testingGenetic findingsClinical managementCLINICAL TRIAL REGISTRY NAMEUnderlying causeGene panelTRIAL REGISTRY NAMEChronic kidney diseaseManagement of adultsAppropriate treatment strategyClinical care paradigmsPatient's medical historyClinical applicationAcademic medical centerClinical disease categoriesAdult patientsREGISTRY NAMEPrior diagnosisKidney diseaseMulticenter studyMedical historyTreatment strategiesMedical Center
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