Groundbreaking DNA Test Identifies Diseases in Record Time

Researchers affiliated with the Garvan Institute of Medical Research in Sydney, Australia developed a new DNA test able to identify genetic diseases much faster – in days, rather than decades! – and more accurately than existing tests, helping patients and doctors alike better manage illnesses and symptoms.

“This new test will completely revolutionize how we diagnose these diseases since we can now test for all the disorders at once with a single DNA test and give a clear genetic diagnosis, helping patients avoid years of unnecessary muscle or nerve biopsies for diseases they don’t have, or risky treatments that suppress their immune system,” says Dr. Kishore Kumar, a co-author of the study and clinical neurologist at the Concord Hospital.

Thanks to collaborators from Australia, the United Kingdom, and Israel, some 50 hard-to-diagnose neurological and neuromuscular genetic diseases caused by unusually-long repetitive DNA sequences called ‘Short Tandem Repeat expansion disorders’ can now be identified; they may not be curable ailments, but quicker diagnosis lead to better treatment and fewer complications. Using a blood sample, it is possible to scan a patient’s genome with a technology called Nanopore sequencing to find not only known pathologies but also novel illnesses. The team seeks validation for the test so it can be made available in pathology services all around the world within the next two to five years.