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.
Evidence from Victoria has been critical in getting several genomic tests funded by Medicare.
Medicare can only fund medical services whose safety, clinical effectiveness and cost effectiveness have been assessed by the Medical Services Advisory Committee. Rigorous evidence underpins each assessment.
Medicare began to fund genomic tests in May 2020. The first funded test was for ‘childhood syndromes’ – conditions affecting children aged 10 and under, likely to be caused by a single gene change. Much of the evidence for this test came from a Melbourne Genomics project.1 Crucially, this project also showed the value of re-analysing genomic data as new knowledge becomes available.
Seven more genomic tests are now Medicare funded. Melbourne Genomics evidence was cited in applications for kidney disease2 and cardiomyopathies3 (our studies showed genomic testing was an effective diagnostic tool).
Early genomic sequencing for children with suspected monogenic conditions resulted in five times more diagnoses, for less than half the cost of usual testing and care. One in two patients with genetic kidney disease got an informative result, and one in four got more precise care.
Starting in November 2023, Medicare will fund new genomic tests for blood cancers and childhood hearing impairment. Evidence from Melbourne Genomics was crucial in obtaining funding for childhood hearing loss: our study showed that genomic testing tripled the diagnosis rate and changed the care of 90% of children who were diagnosed.4
Answers for children
Early genomic sequencing for children with suspected monogenic conditions resulted in five times more diagnoses, for less than half the cost of usual testing and care.
Kidney disease
One in two patients with genetic kidney disease got an informative result, and one in four got more precise care.
Hearing loss
Finding the cause of severe hearing loss in babies tripled with genomic testing.
Sources
- “A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders”, Stark, Z.,et.al, Genetics in Medicine (2016) doi:10.1038/gim.2016.1 3
- “Clinical impact of genomic testing in patients with suspected monogenic kidney disease”, Jayasinghe et.al, Genetics in Medicine (2020) https://doi.org/10.1038/s41436-020-00963-4 4
- “Prospective evaluation of the utility of whole exome sequencing in dilated cardiomyopathy”, Ramchand et.al., Journal of the American Heart Association (2020) doi.org/10.1161/JAHA.119.013346 5
- “Exome sequencing for isolated congenital hearing loss: a cost-effective analysis”, Downie et.al., The Laryngoscope (2020) https:// doi.org/10.1002/lary.29356