The spectrum of genetic testing in Australia

Abstract

<h3>Background</h3> To assist the Genetics Working Party (GWP) in a review of current genetic testing arrangements nationally, the Royal College of Pathologists of Australasia (RPCA) was contracted by the Department of Health and Ageing to conduct its second survey of genetic testing in Australia. The Survey aimed to document medical genetic testing performed during 2011, by NATA-accred-ited cytogenetics, biochemical genetics and molecular genetics laboratories. Information was sought regarding volumes and types of testing available, the purposes of testing and sources of funding. <h3>Study design</h3> 100% of invited laboratories participated. Data were collected by electronic means and then collated for analysis and comparison with previous data. <h3>Key findings</h3> Close to 670 000 medical genetic assays were performed across all disciplines in 2011. Since 2006, there has been an increase in volume and range of molecular genetic assays performed annually. However, the proportion of assays funded by the Medicare benefits Schedule (MBS) has changed little, and overseas testing remains a small proportion of total assays requested nationally. <h3>Conclusion</h3> The Survey provides representative data that can be used to describe current practices and trends in medical genetic testing in Australia. Introduction of ongoing collection of national medical genetic testing data using a system that is shown to be valid and reliable may be worth considering.