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Contributions DOI: 10.38023/0b3ef47c-978c-4321-a933-04dd49ef1080

«Every diagnosis is actionable.» – Reimbursement of paediatric exome sequencing

A qualitative expert interview study from Germany and Switzerland

Johanna Eichinger
Anne-Sylvie Dupont
Stuart McLennan
Isabel Filges
Insa Koné
Bernice Elger
Domaines juridiques:

Droit de la santé

Proposition de citation: Johanna Eichinger / Anne-Sylvie Dupont / Stuart McLennan / Isabel Filges / Insa Koné / Bernice Elger, «Every diagnosis is actionable.» – Reimbursement of paediatric exome sequencing, in : Jusletter 28 août 2023

In our qualitative study on ethical considerations in paediatric genome-wide sequencing, the frequently lacking reimbursement by health insurers and related legal aspects were described as a significant problem. Insufficient social insurance regulations and an inconsistent or overly narrow interpretation of existing regulations in Switzerland appeared as decisive reasons. This article presents the results of this aspect of the study, analyses the legal framework, and examines underlying ethical concepts.


Table des matières

  • 1. Background
  • 2. Methods
  • 3. Results
    • 3.1. The problem of strict and inconsistent reimbursement of exome sequencing by health insurers
    • 3.2. The consequences of strict and inconsistent reimbursement of exome sequencing by health insurers
      • 3.2.1. Inequality
      • 3.2.2. Delays in diagnostic process
      • 3.2.3. Regulations out of step with advances in diagnostic possibilities
    • 3.3. The importance of taking a broader interpretation of therapeutic and social consequences
  • 4. Discussion
  • 5. Conclusion
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