Development of Korean genome reference materials

- Customized diagnosis for improved accuracy -

# The genome is often likened to a book, comprising the complete set of genetic information for a living organism. The genome book is made up of genes, which are comparable to ‘sentences’ in a book, while genes comprise DNA sequences, which act like letters. An important feature of the genome books is that they exhibit similar traits within population groups such as race and nations. This is why we need to analyze genomes by groups, just as we classify books by genres.

 

A joint research team between the Korea Research Institute of Standards and Science and Seoul National University have developed Asia’s first reference materials, which can be used to enhance the accuracy of genome analysis.

 

A joint research team led by Senior Research Scientist Young-Kyung Bae and Principal Research Scientist Inchul Yang at KRISS Center for Bioanalysis and Professor Joohon Sung of the SNU Graduate School of Public Health have successfully developed Korean genome reference materials and built a database of the corresponding sequence information. The Korean genome reference materials can be used for customized genome analysis, which could potentially enable the early diagnosis of various genetic diseases.

 

Since 2003, when with the success of the genome project the secret of the human genome was unlocked, the time and cost of decoding vast genomic data have been greatly reduced by next generation sequencing (NGS)* technology. Currently, individual genome analysis plays a decisive role in the prevention and treatment of various genetic diseases from cancer to Alzheimer’s.

 

* Next Generation Sequencing(NGS): Genome sequence analysis based on large-scale parallelization to increase data generation. As vast quantities of DNA pieces are parallelized for faster analysis, next generation sequencing has dramatically reduced the cost of genomic analysis and is being used in a wide range of applications.

 

In essence, NGS technology involves fragmenting DNA into small pieces, analyzing them many times, and then reassembling them according to the genome map. However, due to differences in testing methods or reassembly processes, small errors exist between results obtained by various test centers. Considering that even slight errors can negatively affect the diagnosis, there has to be a standard for evaluating the accuracy of NGS.

 

 Reference materials are useful standards for evaluating the accuracy of a test center, acting like a solution sheet to a math problem. When a test center is provided with genome reference materials and sequencing results containing accurate data, the center can use the information to calibrate its equipment and improve the accuracy of analysis.

 

The joint KRISS SNU team has successfully developed genome reference materials by standardizing DNA materials from Koreans. This entails the extraction of DNA from the cells of Korean subjects, analyzing of the cells, and verifying of the results using the most advanced technologies. Genome reference materials have the advantage of being able to provide not just quantitative DNA data but also qualitative sequencing data.

 

With the development of the Korean genome reference materials, Korean test centers no longer have to import Caucasian genome reference materials from the US National Institute of Standards and Technology (NIST). The Korean genome reference materials are not only more affordable, they contain over 30% more validated sequence data to improve the reliability of genomic analysis in Korea.

 

“The Korean genome reference materials have a wider validation range than the existing reference materials, being based on the ‘Korean standard genome map’ developed by Korean scientists and recognized worldwide,” KRISS Senior Research Scientist Young-Kyung Bae says, adding, “It will help make genomic analysis more accurate not just for Koreans but for Asians in general as well.”

 

According to SNU Professor Sung Joohon, “Korean genomic data is absolutely necessary for the development of preventative measures and treatments for Koreans,” and “this technology will contribute to the development of customized diagnostics for Korean patients by improving the genomic testing accuracy of domestic test centers.”

 

This study was conducted with funding from the Ministry of Trade, Industry and Energy and Korea Evaluation Institute of Industrial Technology’s “Korean Standard Genome Mapping: Genome Daedongyeojido Project”.

 

 

○ What are its applications?

 

1. Improved accuracy and quality management in genome analysis

: Genomic analysis data plays a key role in disease susceptibility (an individual’s tendency to develop the condition) prediction, early diagnosis, treatment selection, prognosis evaluation, etc. Korean genome reference materials can be used to validate new methods of genomic analysis and bioinformatic algorithms to improve the reliability of genomic analysis, which in turn will make diagnosis more accurate in clinical practice. There could also be applications in policies for quality management in genome analysis.

 

2. Import substitution, increased exports and leadership in genomic research standards

: The Korean genome reference materials are the first genome reference materials developed in Asia. Not only is it a significant step to no longer being reliant on Caucasian genome reference materials, the Korean materials contain over 30% more validated sequence data at 70% of the cost. This also means that they have excellent export potential as representative Asian genome reference material.

 

 

▲ Asia’s first Korean genome reference materials developed by joint research between KRISS and SNU

 

 

 

 

 

 

▲ KRISS Senior Research Scientist Young-Kyung Bae is working on Korean genome reference material.

 

 

 

▲ The KRISS-SNU team is observing the Korean genome reference material.

(From left, SNU professor Joohon Sung, KRISS Senior Research Scientist Young-Kyung Bae, Principal Research Scientist Inchul Yang)