Single test to detect over 50 genetic diseases

Researchers in Sydney say they have developed a single DNA test that will detect more than 50 genetic neurological and neuromuscular diseases. Developed by researchers around the world and led by the Garvan Institute for Medical Research in Sydney, the test will make it easier to diagnose difficult conditions more quickly and more accurately than existing tests, reducing diagnosis from decades to days. 

The technology used in the “Nanopore” device is according to Dr. Ira Deveson, Director of Genomic Technologies at the Garvan Institute and lead author of the research, capable of separating genomic sequences that share a unique repetitive sequence for more than 50 of these genetic diseases.

Currently many of these diseases are difficult to diagnose due to the complex symptoms presented by patients and due to the technological limitations of existing genetic analysis methods.

According to the research, the test has already accurately detected such diverse diseases as motor neuron disease, Huntington’s and myoclonic epilepsies.

Dr. Kumar, a co-author of the study and a Clinical Neurologist at Concord Hospital, says that current genetic testing for expansion disorders can be “a hit and a miss.” When patients exhibit symptoms, it can be difficult to know which of these more than 50 genetic expansions they may have, so the doctor must decide which genes to analyse based on the person’s symptoms and family history.

He added: “If the test comes back negative, the patient is left with no answers. These tests can last for years without finding the genes involved in the disease. We call it the ‘diagnostic odyssey,’ and it can be quite stressful for patients and their families.”

If the test does what researchers claim it does, it will completely revolutionise diagnoses according to Kumar. He says: “We can now detect all 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.”

The test

Doctors will be able to extract a sample of blood which is then used to scan the patient’s genome using a much smaller device than what is currently in use.

Dr. Deveson explains “It’s gone from the size of a refrigerator to a stapler and it is a cheaper option costing around 1,000 euros.

She continued saying: “We have programmed the device to focus on the approximately 40 genes known to be involved in these disorders and to read the long and repeated DNA sequences that cause the disease. By untangling the two strands of DNA and reading the sequences of repeated letters (combinations of A, T, G or C), we can look for abnormally long repeats within the patient’s genes, which are the hallmarks of the disease.”

Research hope that the single Nanopore technology will be widely available in two to five years, pathology laboratories across the world to detect genetic diseases. The researchers stress that they first need to obtain proper clinical accreditation for this method.

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