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World of Genomics: South Korea

Original article written by Miyako Rogers, August 2022. Updated by Aleisha Collins, November 2023.

Famous for kimchi, K-pop and Samsung, we travel to South Korea for the latest in our World of Genomics series. South Korea is a young country, only established in 1948, but despite this has grown to be one of the wealthiest nations in the world. South Korea established universal health coverage as early as 1989 using a national health insurance system. Arguably known best as a world leader in the technology and electronics industry, South Korea is also home to some of the most advanced genomic medicine and research centres. 

The population of South Korea 

South Korea, officially known as the Republic of Korea, is a peninsula bordered by the Yellow Sea, the Sea of Japan and North Korea (The Democratic People’s Republic of Korea (DPRK)). Its capital city, Seoul, is the 4th largest urban area in the world and South Korea is a highly developed country with the 7th highest life expectancy in the world. 

The Korean Peninsula has been inhabited since before 8000 BCE. The Gojoseon Kingdom was founded in 2333 BCE and over the next few centuries, invasions, civil unrest and war led to the fracturing of the Korean peninsula until it was finally unified under the Korean Empire in 1897. However, this empire was short-lived, as in 1910, the Japanese Empire annexed the country. Japanese rule ended following World War 2. The Korean Peninsula was divided into two zones: The Republic of Korea in the south and The Democratic People’s Republic of Korea in the north. This division led to the Korean War, which lasted from 1950-1953. Since the war, in a little over 50 years, South Korea has developed into one of the world’s wealthiest nations. 

Figure 1 | Map of South Korea (Source: Canva) 

Geographic and demographic information 

Summary statistics 

  • Land area: 2018 estimate: 100,370 sq km 
  • Gross domestic product (GDP): 
    • Total: 2021 estimate: 1.8 Trillion USD 
    • Per capita: 34,757.7 USD 

Population statistics: 

  • Population size: 51,784,059 (2021) 
  • Birth rate: 6.769 per 1000 people (2023) 
  • Death rate: 6.885 per 1000 people (2023) 
  • Infant mortality rate: 1.797 per 1000 people (2023) 
  • Life expectancy: 83.5 years (2023) 
    • Male: 81 years (2021) 
    • Female: 87 years (2021) 
  • Ethnicities: 95.63% Korean, 2.19% Chinese, 2.19% Vietnamese, Thai, American, or other. (2022) 

Healthcare system 

South Korea introduced social health insurance in 1977 and achieved universal health coverage in 1989. In 2000, all insurance schemes were merged into the National Health Insurance (NHI) scheme, covering the entire population, including benefits coverage. Benefits coverage includes regular health check-ups and cancer screenings. NHI contributions are split equally between employee and employer and are proportional to wage income. However, out-of-pocket payments are still required, with patients paying 20% for covered services and full payment for services not covered by NHI, although poor and vulnerable patient groups are exempt from cost-sharing at the point of service. 

The NHI system has resulted in almost all healthcare providers being private companies and hospitals, which has proven to be a major obstacle to healthcare reforms. The Ministry of Health and Welfare manages healthcare reform and policy planning in collaboration with regional governments. NHI is managed by the National Health Insurance Service and the Health Insurance Review and Assessment Service (HIRA), with oversight by the Ministry of Health and Welfare. HIRA has made efforts to improve the quality of care by collecting feedback and information from a nationwide claims database. 

In an attempt to regulate private hospitals, the Ministry of Health and Welfare introduced a hospital accreditation programme in 2011. However, participation is voluntary for most hospitals. To ensure a consistent quality of care, a new license reporting mechanism was introduced in 2015, which requires licensed health professionals to report continuing professional education and training and update their employment status every three years. There has been an increasing strain on human resources in healthcare, with the number of practising healthcare professionals being less than the average of Organisation for Economic Co-operation and Development (OECD) countries. However, in contrast to other OECD countries, significant capital investment has been made in physical healthcare resources, with a substantial increase in the number of hospitals and beds over the last 30 years. 

Health Priorities 

South Korea has a rapidly ageing population, with Alzheimer’s Disease being the 6th most common cause of death, alongside other chronic diseases such as cardiovascular disease. This poses a major problem, as the current South Korean healthcare system primarily focuses on curative over preventive medicine. Community Health Centres (CHC) are the main focus of chronic disease management, but there is currently only 1 CHC for every 300-500,000 people. 

However, in 2018, the Ministry of Health and Welfare launched the pilot primary care non-communicable diseases (NCD) control programme, teaming up with local clinics to provide better primary care for patients with chronic conditions such as hypertension. South Korea has also leveraged advances in smartphone technology to create digital devices and services for the continuous management of cardiovascular diseases outside the clinic. These devices allow for parameters such as blood pressure to be regularly monitored, and patients receive recalls, reminders and alerts through their smartphones. 

Cancer accounted for 26% of deaths in South Korea in 2018, which is the average for developed countries. South Korea has had a National Cancer Screening Programme in place since 1999, and as of 2011 individuals in the lower 50% income bracket are eligible for free cancer screenings. As of 2017, lifetime cancer screening rates for breast, cervical, gastric and liver cancers were all above 70%. 

Tuberculosis remains a major health concern in South Korea with 6 incidences per 1000 people (much higher than the OECD average of 1 incidence per 1000 people). Data on tuberculosis is very accurate, thanks to the Korean National Tuberculosis Surveillance System. This online database was set up in 2000 and collects information on tuberculosis incidence and final treatment outcomes. The Korean Disease Control and Prevention Agency (KDCA) announced the Comprehensive Plan on Tuberculosis in 2018, and the Strengthening Measures of Tuberculosis Prevention and Management in 2019. These plans focus on early detection, patient care, contact management and investment in tuberculosis research.   

Genomic medicine capabilities 

Genetic testing is already widespread for hereditary (mostly infant) diseases and following cancer diagnosis to inform precision medicine treatments. South Korea leverages innovative genomic research to develop cutting-edge treatments and uses top-of-the-line technology for genetic testing. The South Korean government has invested roughly 55.7 million USD in developing these treatments. This project, led by Korea University, is using genomic analysis of over 10,000 cancer patients to develop bespoke cancer treatments. However, most genetic tests are not covered by NHI, and are either covered by private health insurance or paid for out-of-pocket. In particular, precision medicine treatments for cancer are very expensive. 

The Bioethics and Safety Act is the primary regulatory framework for the use of genomic medicine. Genomics policy is governed by the Division of Bioethics Policy, part of the Ministry of Health and Welfare. However, regulations, quality assurance training for health professionals and health coverage are not keeping pace with the increasing demand for these treatments. Notably, there do not appear to be any guidelines in place for the prescription of genetic tests, potentially creating monetary incentives for private hospitals and companies to prescribe genetic tests for patients who may not need them. 

The National Biobank of Korea, established in 2008, is one of the biggest in the world, with human biospecimens from over 820,000 participants, including blood, plasma, tissues, DNA, and personal genetic information. Using this resource, a number of large-scale genomic projects have been undertaken, including the Korean Genome Project and the creation of the Korean Reference Genome Database. The Korea Association Resource (KARE) has identified genomes related to obesity, diabetes, hypertension, and more. Another study, in conjunction with data from BioBank Japan, has highlighted previously unknown genome-wide signals associated with metabolic traits. 

Notable projects 

  • Korea Biobank Network (KBN): KBN consists of the National Biobank of Korea, 17 regional biobanks in university hospitals and 2 other collaborative biobanks. KBN stores and collects human biospecimens from over 820,000 individuals. 
  • Korean Genome Project (1KGP): 1KGP includes 1094 whole genomes and data from 79 quantitative clinical traits. 39 million single-nucleotide variants have been identified, and Korean-specific patterns were detected based on several types of genomic variations. 
  • Korea Association Resource (KARE): Analysis of the first Korean individual genome sequence (SJK) to identify underlying genetic risk factors of diseases and health problems such as blood pressure, obesity, bone density and blood biochemical traits. 
  • Korean Genome Epidemiology Study (KoGES): Established a genome epidemiological study resource to investigate genetic and environmental causes of common complex diseases in Korea such as hypertension, obesity, cancer, and more. 
  • Korean National Standard Reference Variome database (KoVariome): Database of whole genomes with comprehensive single-nucleotide variants, short insertions and deletions, copy number variations, and structural variations analyses to identify novel disease-causing variants in the Korean population. 
  • Korean Reference Genome Database (KRGDB): Database and genome browser containing information on Korean genomic variant frequency, frequency differences between Korean and other population, and functional annotation (regulatory elements, and coding variant functions) of variant sites. 
  • The Welfare Genome Project (WGP): First large-scale genome project with public participation in Korea. Provided 1,000 healthy Korean volunteers with detailed genetic reports to test the social perception of genetic testing, with free health check-ups and genetic counselling. 
  • Korean Variant Archive 2 (KOVA 2): Established in 2022, currently the largest genetic database from the ethnic Korean population hosting 1896 whole-genome sequences and 3409 whole-exome sequences from healthy individuals of Korean ethnicity. It is open-access and aimed to support genetic studies of East Asian populations. 

Notable organisations and companies 

  • Genome Research Foundation: Non-profit research foundation focused on genomics and bioinformatics, contributed to KoVariome and 1KGP. 
  • Ilchun Genomic Medicine Institute: Part of Seoul Nation University research centre, conducted the Northeast Asian Genome Project, the first Korean genome sequencing, epigenome analysis of induced pluripotent stem cells, part of Genome Asia 1000K Project, and more. 
  • Korean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST): Developed bioinformatic tools for the analysis of genome data, completing the 10,000 Ulsan Genomes Project (largest scale personal genome project in Korea). 
  • TheragenEtex: Pharmaceutical and biotech company providing Next Generation Sequencing and personalized drug development services 
  • Geninus Inc: Biotech company providing genetic tests, targeted anti-cancer therapies, and liquid biopsy cancer genomics. 

Notable individuals 

  • Hyun-Young Park: Director of the Department of Precision Medicine at the Korean National Institute of Health. Dr Park has worked on data sharing policies in South Korea for the past decade and developed the Clinical and Omics Data Archive and was involved in the National Bio Big Data biobank project. 
  • Semin Lee: Director of KOGIC and helped develop the Korean Genome Project and Cancer Genome Atlas Analysis Project. Dr Lee has also been published in Nature for work on the genomic characterisation of cancers such as glioblastoma, endometrial carcinoma, and more. 
  • Myung Kyungjae: Founding director of the IBS Center for Genomic Integrity and Section Head of the National Human Genome Research Institute. In 2017, he received the Scholar of the Year Award from the Genetic Society of Korea. 

The future genomics landscape 

The South Korean Government is investing heavily in genomics research to inform public health policy. The Korean Genome and Epidemiology Study (KoGES), funded by the South Korean Government, is an example of this commitment to harnessing the potential of precision medicine. KoGES aims to solve public health issues such as diabetes, cardiovascular disease and cancer by establishing a genome epidemiological study platform, to investigate the genetic and environmental causes of these diseases. 

In South Korea, direct-to-consumer (DTC) genetic testing is a lucrative and increasingly popular service. Currently, DTC genetic tests in South Korea provide information on genetic traits associated with blood pressure, cholesterol, hair loss and skin elasticity. Of particular note is the popularity of cosmetic information on skin health and hair loss.  

As of 2019, the Ministry of Health and Welfare is exploring introducing DTC genetic tests for coronary artery disease, hypertension, type 2 diabetes, stroke, and many cancers. The concerning aspect of DTC genetic tests is the lack of medical professionals involved to provide proper genetic counselling. Consumers receiving information about their genetic makeup without the proper tools and knowledge to understand their implications are potentially dangerous and regulations in South Korea are not keeping up with increasing interest and demand. However, the increasing popularity of DTC testing has contributed to significant progress in the field of open-access genetic databases in East Asia. Such studies will undoubtedly support further research which could drive policy change. 

Although the South Korean Government has been making genomic medicine a priority, most investment in research appears to be focused on developing new treatments over preventive interventions and increasing accessibility to existing services. Unless policy focus shifts, South Korea’s ageing population, combined with increasing wealth inequality, will potentially become a major problem for the country’s genomic medicine capabilities. 


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