Whole-exome sequencing accreditation lets SA Pathology lead way in precision medicine

By / 16th of June, 2015

A GENETICS and molecular pathology laboratory in South Australia is the first lab in Australia to receive accreditation for ‘whole-exome sequencing’, leading the way to genetic testing becoming a regular part of medical treatment.

SA Pathology’s Genetics and Molecular Pathology laboratory, in collaboration with the CCB’s genomic research facility, is the first in Australia to receive National Association of Testing Authorities (NATA) accreditation to test 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.

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 per cent 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,” he says.

Dr Karin Kassahn, Head of Technology Advancement with Prof Scott’s team, says that for some conditions, such as inherited cancers, testing a subset of genes or ‘panels’ is appropriate but for complex conditions you don’t know which genes to target so testing them all in a ‘whole-exome’ approach is best.

“It’s a real paradigm shift,” she says. “For the first time, genetic testing can precede attempts at diagnosis.”

She said high costs and long timeframes led to 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,” Dr Karin Kassahn said.

Prof Scott said this ‘personalised’ or ‘precision’ medicine is the future of healthcare.

“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.

“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,” said Karin Kassahn.

“If you need genetic testing in SA, the costs are generally covered by the health system,” she says. “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.”

SA Pathology, 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, is now at the forefront of rolling out this new testing for real-world clinical use.