Standardizing how we measure the value of genomic medicine to inform healthcare decision-making in Australia and beyond

Project Details

Determining the value of genomic tests in rare disease necessitates a broader conceptualization of genomic utility beyond diagnostic yield. However, consensus toward which aspects of value to consider is lacking. This project aims to identify and refine priority indicators of utility in rare disease genomic testing in Australia.

Project Duration

2022–2023

Researchers

A/Prof Ilias Goranitis (Project Lead)

Funding

Australian Genomics

Research Publications

Fehlberg Z, Goranitis I, Mallett AJ, Stark Z, Best S. Determining priority indicators of utility for genomic testing in rare disease: A Delphi study. Genet Med. 2024 Mar 6;26(6):101116. doi: 10.1016/j.gim.2024.101116. Epub ahead of print. PMID: 38459833.