New genetic test can detect 50 genetic diseases

by mcardinal

Lauren Dempsey, MS in Biomedicine and Law, RN, FISM News 


Scientists at Garvan Institute of Medical Research have developed a genetic test that has the ability to test for 50 genetic diseases, which could provide a dramatic improvement of diagnosis timelines and plan of care for patients.

The new genomic sequencing will be beneficial for people with rare neurological and neuromuscular diseases that are often difficult to identify and often take years of testing. The new technology analyzes a person’s DNA by scanning the genome through Nanopore sequencing. This allowed researchers to search for any repeated DNA sequences that have the markings of a multitude of diseases with one test.

Our DNA is composed of nucleotides that provide the instructions for our hereditary information and genetic makeup. Current tests rely on repetitive screenings for “hard-to-diagnose neurological and neuromuscular genetic diseases.”

Genetic testing is usually done in conjunction with certain clinical symptoms of disease or when there is a known genetic mutation in a person’s family history. 

Researchers on the team included scientists from Australia, the UK, and Israel. Dr. Ira Deveson, Head of Genomics Technologies at the Garvan Institute and senior author of the study said, “We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more.” 

The team hopes to make this technology available in pathology labs and is expecting it to be a global standard within the next five years. The study results were published in Science Advances and show the accuracy of the test in identifying these diseases much more quickly, helping physicians to treat disease complications, especially since many of the diseases are incurable. 

The research group is seeking accreditation and are confident that it will become part of standard operations in DNA testing because the device is smaller, more cost effective, and can help identify diseases that present in adulthood. Dr. Gina Ravenscroft, a co-author of the study and a researcher working on rare disease genetics at the Harry Perkins Institute of Medical Research believes this will transform genetic testing:

Adult-onset genetic disorders haven’t received as much research attention as those that appear in early life. By finding more people with these rare adult-onset diseases, and those who may be pre-symptomatic, we’ll be able to learn more about a whole range of rare diseases through cohort studies, which would otherwise be hard to do.

Dr. Kishore Kumar, a neurologist at Concord Hospital and the University of Sydney, and Visiting Scientist at Garvan, and a co-author of the study said that the research could save years of unknown diagnosis since the current process can be “hit and miss.”

When patients present with symptoms, it can be difficult to tell which of these 50-plus genetic expansions they might have, so their doctor must decide which genes to test for based on the person’s symptoms and family history. If that test comes back negative, the patient is left without answers. This testing can go on for years without finding the genes implicated in their disease. We call this the ‘diagnostic odyssey’, and it can be quite stressful for patients and their families.

This test will give physicians a clearer picture of a patient’s health status, providing a clear diagnosis, which will help healthcare providers to quickly treat patients and offer better treatment options.