Next-generation Sequencing Used for Specimen Analysis

NGS Laboratory of Macrogen

Precision medical biotechnology company Macrogen has been designated by the Ministry of Food and Drug Safety (MFDS) as a clinical trial specimen analysis institution, which performs specimen analysis of blood and urine collected from clinical test subjects.

Macrogen can now perform next-generation sequencing (NGS) for clinical test specimens. Of the designated clinical specimen analysis institutions, Macrogen is the first and only institute in Korea to provide the specimen analysis report using NGS technology.

NGS is a genetic analysis method introduced in 1996. As it divides DNA strands into a large number of fragments and then analyzes them at once in parallel, it can read 20 million bases at once at a much faster rate than before.

The first-generation analysis method used for the human genome project required a total of US$2.7 billion (about 3 trillion won) and 13 years of time to decipher a single person’s genome and determine the nucleotide sequence. Due to the genome analysis technology development, like NGS, the analysis time has been shortened to one to two weeks, and the cost has been reduced to around US$1,000 (about 100 millionwon) per person.

The application of NGS has been expanded from the human genome project to medical and clinical fields. Above all, NGS technology made it possible to construct super-precise genome maps by identifying unknown genes.

In 2016, the Macrogen Genome Institute and the Bioinformatics Institute, together with the Seoul National University Genomic Medicine Institute, published the results of the Korean human genome map in Nature, which said, "This map is the first standard genomic map of a particular race."

In addition, NGS is used to build genomic big data that will be the basis of precision medicine. The United Kingdom carried out the U.K. 100,000 Genome Project from 2012 to 2017 to collect full-length genomic data of 100,000 patients with cancer or rare diseases.

In Korea, Macrogen started its own Asian Genome Project in 2010. Researchers from a number of countries, including Japan, China, and Mongolia, participated in the project, and the company has collected genetic information on 10,000 people in northern Asia.

In particular, NGS is used for precision medical care that maximizes the therapeutic effect by providing customized medical information tailored to individual characteristics through genome analysis. In addition, the most fundamental service that genetic analysis can provide in the medical field is diagnosis. Unknown diseases can be diagnosed using NGS technology.

"With the advent of NGS technology, we can now obtain accurate genomic information using precise and sophisticated analytical techniques while reducing the cost and time of the analysis," said Yang Gab-suk, CEO of Macrogen. "This advance has led to a rapid growth of the genome market, and the scope of application has expanded to medical, clinical, and diagnostic areas," he added.

Meanwhile, market research firm The Insight Partners predicted that the NGS market is expected to grow at an annual rate of 21.1 percent from 2018 to 2025. The market is expected to reach US$265.1 billion by 2025.

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