2024
Clinical Genetic Testing in Nephrology: Core Curriculum 2024
Aron A, Dahl N. Clinical Genetic Testing in Nephrology: Core Curriculum 2024. American Journal Of Kidney Diseases 2024, 84: 632-645. PMID: 39340488, DOI: 10.1053/j.ajkd.2024.05.011.Peer-Reviewed Original ResearchClinical genetic testingGenetic testingRoutine diagnostic workup of patientsKidney diseaseDiagnostic workup of patientsDiagnostic yield of testingRoutine diagnostic workupWorkup of patientsRoutine nephrology careYield of testingGenetic resultsImprove careCore curriculumReduce barriersDiagnostic odysseyExtrarenal manifestationsDiagnostic yieldMonogenic etiologyPatient selectionReduce anxietyPatient populationNephrology careTreatment planningFamily planningSecondary findingsAdvancing 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
2023
The VUS Challenge in Cystic Kidney Disease: A Case-Based Review
Aklilu A, Gulati A, Kolber K, Yang H, Harris P, Dahl N. The VUS Challenge in Cystic Kidney Disease: A Case-Based Review. Kidney360 2023, 5: 152-159. PMID: 37962562, PMCID: PMC10833605, DOI: 10.34067/kid.0000000000000298.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseKidney diseaseHigh pre-test probabilityGenetic testingCase-based reviewPre-test probabilityDominant polycystic kidney diseaseRoutine genetic testingPost-test genetic counselingCystic kidney diseasePolycystic kidney diseaseFurther family studiesNephrology clinicKidney failureClinical criteriaCystic disordersOrdering clinicianCommon causeAppropriate carePathogenic variantsACMG guidelinesClinical settingDiagnostic groupingsUncertain significanceGenetic reportsThe 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 CenterKidney cysts in patients with HOGA1 variants.
Patel D, Page N, Dahl N. Kidney cysts in patients with HOGA1 variants. Clinical Nephrology 2023, 99: 260-264. PMID: 36928260, DOI: 10.5414/cn110939.Peer-Reviewed Original Research
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
2020
Clinical Applications of Genetic Discoveries in Kidney Transplantation: a Review.
Marin EP, Cohen E, Dahl N. Clinical Applications of Genetic Discoveries in Kidney Transplantation: a Review. Kidney360 2020, 1: 300-305. PMID: 35372915, PMCID: PMC8809267, DOI: 10.34067/kid.0000312019.Peer-Reviewed Original Research
2018
Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease
Murphy EL, Droher ML, DiMaio MS, Dahl NK. Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease. American Journal Of Kidney Diseases 2018, 72: 866-872. PMID: 29606500, DOI: 10.1053/j.ajkd.2018.01.048.Peer-Reviewed Original ResearchConceptsEnd-stage renal diseaseAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney diseasePolycystic kidney diseasePreimplantation genetic diagnosisDisease burdenHeight-adjusted total kidney volumeChronic kidney diseaseSignificant disease burdenAge 35 yearsTotal kidney volumeCommon hereditary formAssisted Reproductive TechnologyFluid-filled cystsRenal diseaseHepatic cystsKidney volumeFamily historyHigh riskHereditary formsIntracranial aneurysmsGenetic testingEarly onsetUrologic events