Genomic testing is set to revolutionise medicine – by finding answers other tests miss, taking trial-and-error out of treatment, or informing preventative strategies that keep people out of hospital.
But is genomics being used as widely or wisely as it could be?
A new study has tracked the use of publicly funded genetic and genomic tests in Australia over the last decade.
As lead author A/Prof Chris Schilling explains, the study looked at tests subsidised through the Medicare Benefits Schedule (MBS). This does not include genomic tests funded by state governments or paid for by consumers.
Even so, A/Prof Schilling notes a mismatch between funding and usage of genomic tests. “While evidence for the medical benefit of genomic testing is growing steadily, the actual use of these tests within our health system is lagging.”
The study found that:
- The number of genetic and genomic tests listed on the MBS increased by 300% in the last decade, with 111 items now subsidised.
- Service volumes only increased by 50% over the same period, from 250,881 in 2024 to 376,140 in 2023.
- Benefits paid reached $76.8 million in 2023, or just 0.3% of the total MBS expenditure on all federally subsided medical services that year. This was largely used for cancer, rare disease and reproductive tests.
- Expenditure on genomic testing has grown at 6.9% per annum over the last decade.
A substantial evidence base is needed for MBS to fund a medical procedure. “The fact that so many types of genomic tests are MBS subsided is a testament to the researchers and doctors who have worked hard to demonstrate their benefits,” says A/Prof Schilling.
“But if uptake of these tests is low, patients might actually be missing out on these benefits.”
A/Prof Schilling notes that funding for genomic tests is not sufficient on its own. “We need to think about service models that support genomic testing, education and training for clinicians in all relevant specialties, and hospital and system-wide planning for genomics.
“Our expenditure on genomic testing should grow in line with the evidence for it. When genomics is used with the right patients, we can expect to see fewer ineffective treatments, emergency admissions and complex surgeries – all of which mean real value and cost-effectiveness for the health system.”
Read the full study in the European Journal of Human Genetics.