Emily-Jean McDonagh

The Garvan Institute of Medical Research in Sydney has announced a new service that will triple the rate of diagnosis for Australians suffering from rare and genetic conditions. Launching the sequencing service in conjunction with NSW Health and Genome One, will help hundreds of thousands of sufferers find an answer. Dr Marcel Dinger head of Genomic Medicine at the Garvan says “It used to take years to get a diagnosis for a genetic or rare disease and now we’ll get a result in just eight to 12 weeks.”

Offering a whole-genome sequencing service, patients deemed eligible will have their whole genome, all 20,000 genes analysed for anomalies and genetic markers at once. This technique of DNA sequencing uses complex chemistry and high resolution optics to determine an individual’s DNA sequence. Broken down into As, Cs, Gs and Ts, approximately 6,000 million letters are present in each human genome. Computers are used to compare this mammoth amount of data and locate the differences.

Although focusing on patients left undiagnosed by the current diagnostic tests, genomic medicine – using the information gained from a person’s DNA sequence to diagnose or treat – is at the forefront of groundbreaking medical application for the wider population too.

Executive Director of the Garvan, Professor John Mattick notes,“We are on the precipice of a tremendous revolution in health care.  The more we understand about the whole genome, the greater our ability is to make life-changing diagnoses for genetic conditions and help patients receive the right treatment faster.”

Approximately 6-8% of Australians suffer from a rare genetic condition, with a new disorder identified in medical texts on a weekly basis. The Genome One diagnostic service will help to provide answers and relief for those dealing with a complex range of symptoms.

Not only will individual patients be helped by this revolutionary approach to patient diagnosis but the bank of information gathered by investigating the genome further with provide a wonderful foundation for further research.