This article is part of a report called Genomics in Victoria: What’s changed in 10 years? The information in this article is current as at October 2023.
Rare disease is surprisingly common. Around 8% of Australians live with one of more than 10,000 known rare diseases,1 and their advocacy was critical to the formation of Melbourne Genomics.
The Genetic Support Network of Victoria (GSNV) had been active since 1997 as a voice for people with rare conditions. Rare Voices Australia was formed in 2012 as a national peak body, while Syndromes Without a Name (SWAN) Australia was founded in the same year by Heather Renton, whose daughter had a then-undiagnosed neurodevelopmental disorder.
Melbourne Genomics created a community advisory group (CAG) shortly after its own inception in 2013. Representatives from SWAN and GSNV joined as members, alongside other champions of consumer rights in healthcare. The CAG has advised on every project developed by Melbourne Genomics, ensuring patients and their families were considered at every step.
Consumer voices have been essential in getting genomic tests funded. The Usher Syndrome community’s advocacy helped shape the final decision on Medicare funding for infant hearing loss, while Maddie Riewoldt’s Vision has helped genomics researchers gain funding for their work on bone marrow failure syndromes.
Meanwhile, families with genetic conditions ranging from Spinal Muscular Atrophy to Neimann-Pick Syndrome have connected over social media to form support groups. Their collective advocacy informed a national strategic plan for rare diseases, which was released in 2020. The rare disease sector continues to lead the charge for equitable, patient-centred genomic medicine.
Last year, First Nations genomics researchers created ALIGN: a national alliance to ensure that Aboriginal and Torres Strait Islander peoples benefit from genomic medicine. ALIGN privileges Indigenous leadership and sovereignty, and Melbourne Genomics is proud to support its work in Victoria.
Source
Elliott, E & Zurynski, Y. (2015) ‘Rare diseases are a ‘common’ problem for clinicians. Australian Family Physician. https://www.racgp. org.au/afp/2015/september/rare-diseases-are-a-common-problem-for-clinicians