Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study
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.
Authors
- Antonio Poyatos-Andújar (ORCID: https://orcid.org/0000-0003-4559-2647)
- Francesca Testa (ORCID: https://orcid.org/0000-0003-1037-9766)
- Maria Ferri (ORCID: https://orcid.org/0000-0001-5221-9897)
- Marta Évora García (ORCID: https://orcid.org/0009-0001-6734-8357)
- Giulia Ligabue (ORCID: https://orcid.org/0000-0002-0043-2300)
- Lucia Artuso (ORCID: https://orcid.org/0000-0002-3058-9739)
- Elena Tenedini (ORCID: https://orcid.org/0000-0003-0285-765X)
- Riccardo Magistroni (ORCID: https://orcid.org/0000-0002-3319-0248)
- Almudena Ávila‐Fernández
- Laura Massella (ORCID: https://orcid.org/0000-0001-5796-3965)
- Marco Marino (ORCID: https://orcid.org/0000-0002-7470-7493)
- Marco Ferrarini
- Dino Gibertoni (ORCID: https://orcid.org/0000-0002-1722-3724)
- Antonio Percesepe (ORCID: https://orcid.org/0000-0002-3268-6786)
- Davide Martorana (ORCID: https://orcid.org/0000-0002-7572-7031)
- Antonio Terracciano (ORCID: https://orcid.org/0000-0001-5799-8885)
- Johanna Chester (ORCID: https://orcid.org/0000-0003-2866-0783)
- Olga Calabrese (ORCID: https://orcid.org/0000-0001-8947-5990)
- Gaetano Alfano (ORCID: https://orcid.org/0000-0003-0591-8622)
- Carmen Ayuso (ORCID: https://orcid.org/0000-0002-9242-7065)
- Ana Bustamante‐Aragonés
- Enrico Tagliafico (ORCID: https://orcid.org/0000-0003-0981-2542)
- Silvia Giovanella (ORCID: https://orcid.org/0000-0003-1298-5508)
Institutions
- University of Modena and Reggio Emilia (IT)
- University of Parma (IT)
- Azienda Unita' Sanitaria Locale Di Modena (IT)
- Azienda Ospedaliero-Universitaria di Modena (IT)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Universitario Virgen de las Nieves (ES)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Bambino Gesù Children's Hospital (IT)
- Ospedale di Parma (IT)
- National Operating Committee on Standards for Athletic Equipment (US)
- University of Bologna (IT)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-06-18
- DOI
- https://doi.org/10.1111/cge.70002
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute