Genetic sequencing in Australia could revolutionise cancer diagnostics Posted on June 12, 2015March 14, 2018 by Carly du Toit It is being called ‘the frontier of medical science”’. The potential to pre-empt cancer diagnosis with genetic testing has taken a major step forward following the first Australian NATA* accreditation for ‘whole exome sequencing’. SA Pathology’s Genetics and Molecular Pathology laboratory, in collaboration with the Centre for Cancer Biology’s ACRF genomic research facility, have received this important stamp of approval to test the complete set of human genes in a single assay, using cutting-edge Next-Generation Sequencing (NGS) Technology. Professor Hamish Scott, Director of the ACRF Cancer Genome Facility at SA Pathology’s Centre for Cancer Biology explains: “In human DNA there are six billion data points, 2% of them are 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.” This landmark accreditation rewards many years of research dedication and collaboration between research and funding bodies, including the Australian Cancer Research Foundation. Dr Karin Kassahn, Head of Technology Advancement says, “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.” “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.” Professor Scott has said that unfortunately 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 patients and families manage their disorders,” he said. “This is the future of healthcare, what’s known as ‘personalised’ or ‘precision’ medicine.” The ACRF is proud to have supported the world-class research teams at SA Pathology, Centre for Cancer Biology. We thank our donors and fundraisers for their dedication to cancer research, without which, this important progress would not have been possible. This information was originally published by SA Pathology and can be viewed here. *NATA is the National Association of Testing Authorities in Australia. It ensures facilities, testing and measurement methods comply with relevant international and Australian standards.