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Kidney Week

Abstract: SA-PO529

A Clinical Workflow for Selection of Patients and Efficient Diagnosis of Genetic Kidney Diseases

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Becherucci, Francesca, Meyer Children's Hospital, Florence, Please Select, Italy
  • Landini, Samuela, Meyer Children's Hospital, Florence, Please Select, Italy
  • Palazzo, Viviana, Meyer Children's Hospital, Florence, Please Select, Italy
  • Raglianti, Valentina, Meyer Children's Hospital, Florence, Please Select, Italy
  • Cirillo, Luigi, Meyer Children's Hospital, Florence, Please Select, Italy
  • Lugli, Gianmarco, Meyer Children's Hospital, Florence, Please Select, Italy
  • Mazzinghi, Benedetta, Ludwig-Maximilians-Universitat Munchen, Munchen, Bayern, Germany
  • Romagnani, Paola, Meyer Children's Hospital, Florence, Please Select, Italy

The advent of whole-exome sequencing (WES) has been making inherited kidney disorders (IKD) increasingly recognized across all age groups. Accessibility to genetic testing, interpretation of results and cost concerns limit the widespread use of genomic medicine in daily clinical practice. We explored feasibility and diagnostic performance of a service delivery model for patient selection, WES, results interpretation and counseling.


We set-up a multi-step diagnostic workflow based on the application of WES and reverse phenotyping performed by a multidisciplinary team of experts to adult and pediatric patients selected with simple clinical criteria, through a regional network of nephrology and pediatric centers working in close collaboration with a tertiary center for rare kidney diseases. We included all consecutive patients with a clinical picture suggestive of IKD belonging to 8 different clinical categories. We recorded clinical-laboratory-radiological information. We performed a cost-analysis of the diagnostic workflow modelling potential economic savings of a genomic-first approach to the diagnosis of IKD.


By applying this workflow to a cohort of 474 pediatric and adult patients, we obtained a global diagnostic yield of 66.9%, with category-specific diagnostic rates ranging from 46% to 87%. Reverse phenotyping performed in patients or family members allowed us to reclassify the clinical diagnosis in 90/317 (28.4%) patients, thus increasing diagnostic accuracy. Disease reclassification encompassed the entire spectrum of IKD. Diagnostic yield was independent on the age at onset of kidney disease. We offered genetic testing as cascade screening to 67 families, providing a genetic diagnosis in 67 family members with previously unsuspected or unspecified kidney disorders. The clinical work-up was redirected in an average of 50% of patients. In 11.5% of patients, the results of genetic testing helped in guiding kidney transplant decisions. Finally, cost-analysis showed that our workflow is efficient enabling to potentially save a mean of 1360 euros per patient.


Ordering genetic testing, interpreting results, providing counseling and tailoring clinical management (i.e., personalized nephrology) is feasible and saves costs in a real-world setting.