Australian scientists develop single DNA test for 50 genetic diseases

Australian scientists develop single DNA test for 50 genetic diseases

Australian scientists develop single DNA test for 50 genetic diseases
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SYDNEY – A team of Australian and international scientists created a new DNA test that has the ability to screen for 50 different genetic diseases at once.

The test, published in the Science Advances journal on Monday, was developed by researchers from around the world and headed up by the Garvan Institute of Medical Research in Sydney.

Senior author of the study Dr. Ira Deveson from the Garvan Institute said the test has already accurately picked up diseases such as Huntington’s disease, motor neuron disease and a host of other genetic diseases.

Deveson told Xinhua on Tuesday the “Nanopore” technology used in the device is able to separate out genomic sequencing that all share a repetitive sequence unique to more than 50 of these genetic diseases.

“What we’ve done in this case, is basically programmed this device to selectively sequence only molecules that originate from those target genes, repeat mutations, and to kind of ignore the rest of the genome,” he said.

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Deveson said their initial tests with the device were able to identify diseases from 37 patients with 100-percent accuracy.

Read more: Australian scientists warn against spraying face masks with sanitizer

The testing technology as small as a stapler could deliver results in the span of a week and would cost just 1,000 Australian dollars (about 730 U.S. dollars) — 100 times cheaper than existing mainstream DNA sequencing technology.

Current methods of testing for genetic diseases are a slow, hit-and-miss and expensive process as doctors would need to test for individual diseases based on best guesses from symptoms and family history.

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Dr. Kishore Kumar, a co-author of the study and neurologist at the University of Sydney, and visiting scientist at the Garvan Institute said this would give patients greater certainty and avoid potential years of inconclusive testing.

“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 Kumar.

“It’s already ready to use. The next step is ticking those boxes in terms of performance, making sure it’s accurate, reliable, and then getting really showing that data to the regulators in order to get the accreditation,” said Deveson.

 

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