Surveying the evolving landscape of genetic and genomic testing in the state of Queensland

The value of genetic and genomic testing to clinical care is increasingly being recognised in the Australian clinical setting, with significant investment in initiatives to improve genomics implementation. The aim of this study was to survey current genetic test requests, nationally and in Queensland, to identify considerations for future practice and inform strategy for ensuring impact from this new technology. Data on genetic testing from the Medicare Benefits Scheme (MBS) and Queensland state-wide pathology service from 2017 to 2023 were analysed for genetic and genomic test use, funding profile, referring specialties and test categories/types. MBS service and billing data showed that genetic test use is increasing nationally, with the number of items available increasing at a higher rate than the number of items billed (item numbers being used). Queensland test request data showed an increasingly broad range of specialties have referred an increasingly diverse number of genetic and genomic testing types. Both the MBS and Queensland state-wide pathology service data indicate increasing costs per test, suggesting the growing complexity of testing is leading to an altered clinical genetic testing landscape. The results point to an increasingly complex genetic testing profile in healthcare along with a widening gap in application. Further research into genomics implementation is required to fully realise the benefits of genetics and genomics testing.