Abstract: TH-PO446
Financial Implications of Genetic Testing in Nephrology: A Real-Life Evaluation of the Costs Related to Podocytopathy and Collagenopathy Diagnosis
Session Information
- Genetic Diseases: Glomerulopathies - I
November 02, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Cirillo, Luigi, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Mazzierli, Tommaso, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Lomi, Jacopo, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Superchi, Eleonora, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Raglianti, Valentina, Universita degli Studi di Firenze Dipartimento di Scienze Biomediche Sperimentali e Cliniche Mario Serio, Firenze, Toscana, Italy
- Lugli, Gianmarco, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Landini, Samuela, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Palazzo, Viviana, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Mazzinghi, Benedetta, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy
- Romagnani, Paola, Universita degli Studi di Firenze Dipartimento di Scienze Biomediche Sperimentali e Cliniche Mario Serio, Firenze, Toscana, Italy
- Becherucci, Francesca, Universita degli Studi di Firenze Dipartimento di Scienze Biomediche Sperimentali e Cliniche Mario Serio, Firenze, Toscana, Italy
Background
Collagenopathies and podocytopathies significantly contribute to CKD. Despite concerted efforts to enhance genetic testing guidelines, a data vacuum persists concerning the economic burden for diagnosis these diseases impose on healthcare systems. This study aims to shed light on healthcare resources utilization and the accompanying financial burden attributable to diagnosing these diseases, using real-world data. Moreover, we sought to evaluate the potential cost savings associated with using early genetic testing in diagnostic trajectories.
Methods
In this multicentric, retrospective study we enrolled all patients with a conclusive genetic diagnosis of podocytopathy and collagenopathy, from our tertiary hospital from Jun 2014 to Dec 2022, as previously described. Direct medical costs from clinical onset to conclusive genetic diagnosis, including medication use, in-hospital visits, invasive procedures, blood sampling, imaging studies, hospital admissions, and genetic tests, were recorded from patient clinical records. These costs were subsequently compared to those anticipated under a 'exome first' approach, involving a basic panel of tests followed immediately by genetic testing within a one-year follow-up period.
Results
The study included 43 patients (23 female), with 22 diagnoses of podocytopathies and 21 of collagenopathies. Over a median follow-up period of 3.5 years; patients required a wide range of resources consumption. Overall, the direct medical costs totaled 98,252 euros for medications, 4,125 euros for in-hospital visits, 68,138 euros for biopsies, 68,926 euros for blood tests, 2,560 euros for urinalysis, 9,023 euros for imaging, and 146,000 euros for genetic testing. Remarkably, the annual cost per patient averaged 3,897 euros, aligning closely with the cost of adopting the 'exome first' approach.
Conclusion
Our study underscores the significant unnecessary treatments and costs associated with the existing diagnostic approach for collagenopathies and podocytopathies. By adopting an early genetic testing strategy, we can mitigate this burden and reallocate resources more efficiently, providing valuable insights for healthcare policymakers.
Funding
- Other NIH Support