Translational Research Grant Profile

Researcher

Dr Deborah Schofield

Research Institution

Kolling Institute and Boden Institutes, University of Sydney

Project Name

Evaluating the cost-effectiveness of whole genome sequencing for the diagnosis of the mitochondrial disease (mito)

Project Overview

It is anticipated that this research will increase accessibility to early intervention, and completely transform the way mito is treated.

Early and precise genetic diagnosis of mitochondrial disorders gives patients the opportunity to access specialist care and early intervention sooner. These interventions may change the disease course to prevent or delay life-threatening symptoms. In the future, it may allow patients to undertake personalised, gene-specific treatments.

This project will calculate the cost of diagnosis for patients using a standard diagnostic approach with multiple tests and a muscle biopsy versus the use of whole genome sequencing.

The number of diagnostic tests undertaken by patients, prior to genetic testing/muscle biopsy will be determined from a sample of 100 patients.

The cost effectiveness of the proposed new diagnostic pathway will be compared with the current model. Researchers will analyse the diagnostic rate, average diagnostic cost per patient and the average cost per genetic diagnosis.

Frequently, diagnosis involves a long, expensive process that is dependent on access to expert clinical assessment and multiple tests, including an invasive muscle biopsy.

This project aims to change the diagnostic model to a more accurate and cost-effective blood test that will provide a rapid answer and help avoid some of the anxiety and financial impact caused by long waits for often inconclusive results.

The results of this study will inform decision-making and policy development regarding the planning of treatment and services for patients. A simple and accurate diagnostic pathway would enable earlier intervention and personalised optimal medical management.

Importantly, accurate genetic diagnosis can play a vital role in preventing mito being passed onto future children by ensuring patients can make informed decisions regarding family planning.