ASN's Mission

To create a world without kidney diseases, the ASN Alliance for Kidney Health elevates care by educating and informing, driving breakthroughs and innovation, and advocating for policies that create transformative changes in kidney medicine throughout the world.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005

email@asn-online.org

202-640-4660

The Latest on X

Kidney Week

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

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