Chronic kidney disease (CKD) has a genetic origin in 10% of patients. The most effective and cost-beneficial genetic testing methodology is debated. A multicenter, retrospective analysis of 692 patients with panel genetic testing (44 genes) evaluated the diagnostic yield, independent predictors of genetic diagnoses, and clinical impact. Diagnostic variants identified totaled 252, resulting in a 36% yield. The highest yields were associated with cystic disease (49%). No diagnostic variants were identified in unknown CKD. Independent clinical predictors of diagnosis were clinical presentation, family history, and early disease onset. Genetic diagnoses confirmed clinical suspicion in 70%, defined the diagnosis in 23%, and altered clinical diagnosis in 7%. Despite study limitations, a 44 gene panel seems to have a similar diagnostic yield as larger panels and whole-exome sequencing (WES) approaches. Patient selection based on independent predictors of genetic diagnosis may further increase diagnostic yield and cost-effectiveness, especially useful in cost-restricted contexts.
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study / Giovanella, S., Poyatos-Andujar, A.M., Garcia, M.M.A., Avila-Fernandez, A., Bustamante-Aragones, A., Ayuso, C., Percesepe, A., Martorana, D., Ferri, M., Terracciano, A., Massella, L., Chester, J., Testa, F., Ligabue, G., Ferrarini, M., Gibertoni, D., Alfano, G., Tenedini, E., Artuso, L., Marino, M., et al.. - In: CLINICAL GENETICS. - ISSN 0009-9163. - (2025). [10.1111/cge.70002]
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study
Percesepe A.;Martorana D.;
2025-01-01
Abstract
Chronic kidney disease (CKD) has a genetic origin in 10% of patients. The most effective and cost-beneficial genetic testing methodology is debated. A multicenter, retrospective analysis of 692 patients with panel genetic testing (44 genes) evaluated the diagnostic yield, independent predictors of genetic diagnoses, and clinical impact. Diagnostic variants identified totaled 252, resulting in a 36% yield. The highest yields were associated with cystic disease (49%). No diagnostic variants were identified in unknown CKD. Independent clinical predictors of diagnosis were clinical presentation, family history, and early disease onset. Genetic diagnoses confirmed clinical suspicion in 70%, defined the diagnosis in 23%, and altered clinical diagnosis in 7%. Despite study limitations, a 44 gene panel seems to have a similar diagnostic yield as larger panels and whole-exome sequencing (WES) approaches. Patient selection based on independent predictors of genetic diagnosis may further increase diagnostic yield and cost-effectiveness, especially useful in cost-restricted contexts.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
