Scientists Develop A Single DNA Test That Screens For Over 50 Genetic Diseases

Researchers at the Garvan Institute of Medical Research in Sydney, Australia, have developed a new DNA test that can screen for over 50 genetic diseases, which could provide earlier diagnoses and treatment for afflicted patients.

Dr Ira Deveson, Head of Genomics Technologies at Garvan Institute, said that the test correctly identified patients suffering from Huntington’s, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, and more.

According to Interesting Engineering, this revolutionary system could shorten current wait times as doctors perform multiple tests to certify a patient’s symptoms, termed the “diagnostic odyssey.” 

“When patients present with symptoms, it can be difficult to tell which of these 50-plus genetic expansions they might have … if that test comes back negative, the patient is left without answers,” explained Dr Kishore Kumar, co-author of the study.

“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,” he added. 

Now, with just a single test, patients will be able to screen for all disorders at one go, allowing them to avoid the merry-go-round of invasive examinations and uncomfortable appointments.

“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,” said Dr Kumar. 

Going forward, the team plans to acquire clinical accreditation for the test, so it can be used in diagnostic practice within the next two to five years. 

[via Interesting Engineering and Garvan Institute of Medical Research, cover image via Sergunt | Dreamstime.com]