UPDATE : Monday, May 25, 2020
Macrogen, 3billion to develop diagnostic product for rare diseases
  • By Lee Han-soo
  • Published 2018.11.27 17:39
  • Updated 2018.11.27 17:39
  • comments 0

Macrogen said Tuesday that it has signed a cooperative agreement with 3billion to develop a genetic diagnostic product for rare diseases.

Rare diseases refer to an illness in which the number of patients is meager. Specific definitions vary from country to country with the U.S. classifying rare diseases if there is a patient population below 200,000, while Korea is 20,000, Taiwan 10,000, and France is 3,000.

Although the population for rare diseases individually is low, when adding up all the rare disease population, it accounts for 10 percent of the global community.

Genetic susceptibility accounts for 80 percent of such rare diseases. Therefore, if the disease is hereditary, a genetic test can diagnose the condition. However, since there are more than 7,000 known diseases, it takes as long as 30 years to confirm the disease. Also, over 40 percent of the patients experience misdiagnosis before their final diagnosis.

The two companies have agreed to develop and market a product that can improve such patient inconvenience in diagnosing rare diseases so that patient can directly receive treatment.

Genetic diagnosis of rare diseases is broadly categorized by gene decoding, mutation detection, mutation analysis, and disease diagnosis.

3billion will take charge in solving mutation analysis problem, which is the biggest challenge in gene diagnosis, with its artificial intelligence analyzer. Also, the company has already proved the analyzers efficacy on over 1,000 rare disease patients at home and abroad. Based on such results, the company is ready to launch a gene diagnosis product for rare diseases.

Macrogen has technology and competitiveness in gene decoding and mutation detection. The company has all the certifications required to provide precision medical diagnosis services to global markets such as CAP and CLIA, as well as an analytical infrastructure to decode more than 90,000 whole-genomes annually.

Also, the company can rapidly enter the global market through overseas subsidiaries and branches located in the U.S., Japan, Europe, Singapore, and Australia, while providing a system to supply services to local medical institutions and customers efficiently.

"This contract allows us to concentrate more on the advanced technology of mutation analysis by saving time and cost of establishing and certifying genetic detoxification facilities," 3billion CEO Keum Chang-won said. "With the cooperation of Macrogen, we plan to enter the rare genetic diagnosis market, which is expected to grow 100 times over the next five years.”

Macrogen CEO Yang Kap-seok also said, “By launching a product with 3billion, which is recognized worldwide for accuracy and expertise in the field of rare disease diagnosis, we have established a bridgehead to enter the global market effectively.”

The launch of the joint product will help both the two companies and the global patients suffering from rare diseases, he added.


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