DNA test method can detect many genetic diseases at the same time

Australian researchers have developed a new gene (DNA) test that can detect 50 different genetic diseases at once.

The method, published on February 7 in the journal Science Advances, is the result of research by scientists at the Garvan Institute and scientists from many countries around the world.

This method can identify a single repeat sequence of more than 50 genetic diseases.

Study lead author Dr Ira Deveson of the Garvan Institute said the test had pinpointed diseases such as Huntington's, a rare genetic disease that causes degeneration of brain neurons. movement and many other genetic diseases.

According to Dr. Deveson, the new test device using Nanopore technology can separate gene sequences to identify a single repeat sequence of more than 50 genetic diseases.

Specifically, the team of scientists programmed the device to selectively sequence genes for molecules derived from target genes, repeat mutations, and remove the rest of the genome. Mr. Deveson said early trials with the device were able to identify genetic diseases in 37 patients with 100% accuracy.

The new test device is about the size of a stapler but can deliver results in seven days and costs as little as A$1,000 ($730), 100 times cheaper than sequencing technology. apply now.

Meanwhile, current methods of testing genetic diseases are slow, need to be performed many times and are expensive because doctors need to test for each disease separately based on the selection of specific diagnoses. highest accuracy from the patient's symptoms and family history.

Dr Kishore Kumar, a neuroscientist at the University of Sydney and co-author of the study, says this new approach will help patients be more certain of their condition and avoid testing for years. without reaching a conclusion. He thinks this method will create a "revolution" in how to test for genetic diseases when the team can now detect all genetic disorders at the same time with just a single test. provide a clear genetic diagnosis.

The above author revealed that this method is ready to be applied and will be submitted to the regulatory authorities for approval.