The Victorian Clinical Genetics Services (VCGS) is one of only a few pathology providers in Australia to receive accreditation from the National Association of Testing Authorities (NATA) for its whole-exome sequencing service and the first in Victoria. This means VCGS can offer the latest in genetic sequencing technology to patients and providers across the country.

Exome sequencing uses a technology called Next Generation Sequencing (NGS); a technology that can sequence a human genome within a single day. Compared to traditional genetic testing which looks at one or two genes at a time, NGS can test all 20,000 genes at one time. This provides an enormous benefit for doctors and patients who are dealing with complex health conditions.

According to VCGS Laboratory Director, Dr Damien Bruno, exome sequencing has improved diagnosis rates for families of critically ill children, who may have previously undergone years of testing without any answer to the cause of their illness.

‘Exome analysis means many patients can avoid the arduous diagnostic odyssey that includes months or years of invasive testing without answers. Clinical exomes allow us to provide answers to families within weeks’.

Professor Kathryn North, Director of the Murdoch Childrens Research Institute (where VCGS is based) and leader of the Australian Genomics Health Alliance (AGHA), said the stamp of approval from NATA positions VCGS as one of the leaders in genetic testing nationally. ‘NATA accreditation means our labs are considered amongst the best in the country, and our staff and processes are deemed to meet very rigorous technical competency and clinical standards’.

The exome service provided by VCGS is comprehensive and unique given the close collaboration between clinical geneticists, genetic counsellors, and laboratory scientists. ‘In addition to the latest testing services, we provide in-house genetic counselling to support both health professionals and their patients’ says Dr Bruno. ‘This ensures a comprehensive, high quality service for Victoria’.

For more information about exome analysis, contact us: exome@vcgs.org.au