For many years, DNA testing has been a hassle for those with genetic disorders. To most people, DNA testing is figuring out more about your ancestry. However, ancestry is just a small portion of DNA testing; for others it can help them better access a treatment or their disorder.
The current problem with genetic testing is that it takes a really long time to get results. Even when the results are available, those results aren’t accurate most of the time. Dr. Kishore Kumar from the Concord Hospital states that expansion disorders can be “[a] hit or miss”. Part of the complication with prior DNA testing was that there were more than 50 genetic expansions that the patient might have. Doctors would test specific genes based on the patient’s family history and their symptoms. If the test came back as negative, the patient was left without answers.
One patient named John, noticed that he had unusual trouble with balancing while taking his skiing lessons. Over the years, his symptoms began to increase in severity. In the course of just a few years, he went from being fully mobile, to being unable to walk without support. After nearly a decade of testing, he was finally diagnosed with a rare genetic disease called CANVAS, which affects the brain.
Fortunately, researchers at the Garvan Institute have found a solution to drastically reduce the amount of time it takes to get accurate results. Dr. Kumar from Concord Hospital explains that the new test will “completely revolutionize how we diagnose these diseases,” because it will help “[the] patients avoid unnecessary muscle and nerve biopsies for diseases they don’t have.”
In addition to helping reduce the amount of time it takes to conduct a DNA test, this new form of testing can also be used to scan for known and novel diseases more efficiently. By using a single DNA sample, the test works by scanning a patient’s genome using a technology called Nanopore sequencing. “In just one test, we can search for every known disease-causing repeat expansion sequence, [thus] potentially discovering novel-sequences likely to be involved in diseases that have not yet been described,” says Dr. Ira Deveson, head of Genomic Technologies at the Garvan Institute.
In conclusion, DNA testing has certainly evolved for the betterment. Instead of going through a “diagnostic odyssey”, patients can now get accurate and reliable results much faster than before. This technology is still new and a few patients might still be skeptical to use it, so it will be interesting to see if this new testing will stay as a simple option for the patient to use, or if it will become a norm in hospitals.
Written by: Abishek Kanthan
Date: March 12,2022
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