Basis for Korean Genome Study

Abstract

Many countries plan to establish population-based genetic databases, or biobanks. Various biobank projects have been proposed since 1998. While biobanks of some countries are province based, some are nationally based. All the biobank projects aim to map genes for common diseases and improve public health in the country. The role of biobank as the infrastructure of human biospecimen supply is important for the development of customized medical treatment, preparation of new drugs, and disease prevention [1]. The biobanks around the world differ in many aspects such as funding sources, individuals’ participation, and organization. There are also differences in the support offered by individual governments and the way consent procedures (presumed or informed) are carried out. Because of public opposition to issues regarding consent and confidentiality, at least one project was terminated [1]. Many biobanks have collected human biospecimens from a great number of participants and of late their information was considered to be an essential component in different studies, including identification of cancer biomarker [2]. The UK biobank has collected blood and urine samples from 500,000 individual participants aged 40–69 years to study disease-associated lifestyle, environmental effects, and genetic factors [3]. The biobank for Norwegian Mother and Child Cohort Study has stored human biospecimens (such as whole blood, plasma, DNA, and urine) of pregnantwomen, their partners and children, which were collected from 50 hospitals in Norway [4]. In Japan, the Biobank Japan Project collected a large number of DNA and serum samples with clinical information [5]. In Korea, various human biospecimens have been collected through population-based cohort studies such as Korean Genome and Epidemiology Study (KoGES), the National Survey of Health and Nutrition, and other government-supported survey projects since 2001. KoGES is a project started with the aim of collecting human biospecimens (such as whole blood, serum, plasma, urine, and blood DNA) and health-associated information from over 300,000 participants aged 40–69 years to support the studies that aim at finding out the relationships between genetic background, environmental risk factors, and lifestyle and disease development in individuals and populations [6]. In this issue, Cho et al have explained about the current status of the National Biobank of Korea, which was opened in April 30, 2012 [6], while Lee et al have described about the Korean Biobank Project, started in 2008, including the biobank’s quality assurance [7]. So far, a total of 89 papers were produced using the distributed human biospecimens, 76 of which are enlisted in SCI/SCIE journals [6]. We expect more papers using human biospecimens in NBK to be published for providing clues to solve issues in disease treatment, eventually promoting the national health.