imagexz20n.pngSA Pathology’s Genetics and Molecular Pathology laboratory in collaboration with the CCB’s genomic research facility, is the first in Australia to receive NATA accreditation for ‘whole-exome sequencing’ – the testing of the complete set of human genes in a single assay. 

The laboratory has also been accredited for testing disease-targeted gene ‘panels’, based on new technology known as Next-Generation Sequencing (NGS), which has the potential to revolutionise diagnostics and the entire provision of healthcare. This landmark accreditation is a culmination of a decade’s research by an interdisciplinary team, led by SA Pathology.

Medicine’s new frontier

Prof Hamish Scott, Head of the Department of Genetics and Molecular Pathology and Director of CCB’s ACRF SA Cancer Genome Facility says, “This is the frontier of medical science. It’s such an exciting, complex area. In human DNA there are six billion data points, 2% of them our genes, which can be sequenced in an ‘exome’. We’re searching through over a hundred million bases to try and find an anomaly or a mutation that may be causing disease.”

Dr Karin Kassahn, Head of Technology Advancement with Prof Scott’s team, says, “For some conditions, testing a subset of genes or ‘panels’ is appropriate, with inherited cancers, for example. But for complex conditions, you don’t know which genes to target, so testing them all in a ‘whole-exome’ approach is most suitable. It’s a real paradigm shift. For the first time, genetic testing can precede attempts at diagnosis.”

“This is about clinical need. Past challenges have included high costs and the timeframes involved, and anxiety for families seeking answers about what is wrong with a loved one. With this new approach, genetic tests will take months, not years, and see an end to some of the uncertainty – there will be definitive results for more patients,” she said.

“This is the future of healthcare, what’s known as ‘personalised’ or ‘precision’ medicine,” says Prof Scott.

“Many rare genetic conditions still don’t have an effective treatment or cure. But if we can pick these things up, we may be able to alleviate symptoms with new therapies and help people manage their disorders” he said.

An integral part of healthcare

“We’re unique here because South Australia is providing these specialised genetic tests in the public health sphere and working to establish it nationally, hopefully on the Medicare Benefits Scheme,” says Karin Kassahn.

“If you need genetic testing in SA, the costs are generally covered by the health system. These technologies weren’t available a decade ago, but now genomics is set to play a major role in medical treatment. If we get this right, genetic testing will become an integral part of health care, available to everyone in need. If we get it wrong, genetic testing may become a private enterprise available only to affluent families. We feel there is a lot at stake.”

In partnership with the University of Adelaide, UniSA, the Centre for Cancer Biology (CCB), the Australian Cancer Research Foundation (ACRF), Therapeutic Innovation Australia (TIA), and eResearchSA, SA Pathology is now at the forefront of rolling out this new testing for real-world clinical use.

Extraordinary commitment and passion

“We couldn’t have done this without the partnerships involved. In the end, though, it isn’t about new machines; it’s people who have actually delivered these outcomes. These achievements are attributable to our great team; the medical scientists, clinical geneticists and technology and computing experts and researchers, all who’ve been supported by our Clinical Director’s strong leadership. This is also an example of the power of doing research in the public health system and within a pathology provider,” says Prof Scott.

“The research teams have put in thousands of hours extra work for no overtime, bonuses or incentives. Everyone has stepped up to take on extra duties, and no-one has asked them to do that. It shows extraordinary commitment and passion and I can speak for every individual in saying that they are doing it for one reason alone – the patients,” he said.