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New technology can diagnose rare genetic diseases in newborns in under 1 week
Updated: 2022-04-11 08:00:47 KST
South Korea defines "rare disease" as one that affects fewer than 20-thousand patients, and for which no appropriate treatment is prevalent.
Of these rare diseases, over 80 percent are caused by a genetic disorder.
When it comes to newborns, existing diagnosis of these rare genetic diseases was mostly completed by metabolic diagnosis based on blood tests, a method that only covered 70 types of diseases.
The metabolic diagnosis method often requires repeated testing due to its low accuracy, which risks a delay in treatment.

"Metabolic diagnosis can vary depending on the type of food you eat That means the interpretation can be somewhat ambiguous or complicated. So, even after metabolic testing and early screening, patients need a genetic diagnosis."

Now, though, researchers in Korea have developed a genetic analysis technology using artificial intelligence that can diagnose rare genetic diseases in newborns using just a small amount of blood.

This new method can analyze more than 250 different kinds of rare genetic diseases within a week.
This technology also allows for the prediction of genetically mutated disease outbreaks, as well as the chances of developing diseases that have yet to be identified.

"200 newborns were admitted to the neonatal intensive care unit, but it was unknown if what they had was a rare disease. Using our diagnosis method, 15 to 20 percent were accurately diagnosed."

Early diagnosis is always key for starting early treatment, which has always been a challenge with newborn babies that we cannot communicate with.
Companies developing this type of rare disease diagnosis technology hope to commercialize the service before the end of this year.
Lee Eunjin, Arirang News.
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