The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases

Project Details

Genomic sequencing has transformed the approach to genetic diagnosis for individuals with rare, presumed monogenic disorders, however half of individuals with rare disease remain undiagnosed after clinically available genomic testing. Rare disease diagnosis has important healthcare resource implications.

This project will use a health economic evaluation framework, to assess whether the additional cost associated with diagnosis is outweighed by reductions in downstream clinical investigation and management costs, and improvements in health and non-health outcomes for patients and their families. This framework will also enable us to optimise the diagnostic process, ensuring implementation that maximises population benefits in the most efficient way. We will micro-cost healthcare resources utilised as part of each component of the enhanced analysis workflow. We will retrospectively review patient-level hospital cost data and medical records to identify resources used for diagnostic, investigation and management-related purposes following the uninformative genomic testing, and which could have been avoided by a timely diagnosis. For the additional diagnoses obtained, a clinician survey will be designed to cost resource use related to clinical utility. The value of diagnosis in this population group will be quantified using preference elicitation methods, as well as via a patient survey to elicit the patient perspective of clinical utility.

Project Duration

2022-2025

Researchers

• A/Prof Ilias Goranitis
• Francisco Santos Gonzalez

Funding

Medical Research Future Fund (MRFF) - Genomics Health Futures Mission