• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.1-5
• /
• 2007

Unprecedented amount of genetic information being generated from the result of Human Genome Project (HGP) and advances in genetic research is already forcing changes in the paradigm of health and disease. The ultimate goal of genetic medicine is to use genetic information and technology to develop new ways of treatment or even prevention of the disease on an individual level for 'personalized medicine'. Genetics is play ing an increasingly important role in the diagnosis, monitoring and management of common multifactorial diseases in addition to rare single-gene disorders. While wide range of genetic testing have provided benefits to patients and family, uncertainties surrounding test interpretation, the current lack of available medical options for the diseases, and risks for discrimination and social stigmatization may remain to be resolved. However an increasing number of genetic tests are becoming commercially available, including direct to consumer genetic testing, yet public is often unaw are of their clinical and social implications. The personal nature of information generated by a genetic test, its power to affect major life decisions and family members, and its potential misuse raise important ethical considerations. Therefore appropriate genetic counseling is needed for patient to be informed with the benefits, limitations and risks of genetic tests, prior to informed consent for the tests. Physician also should be familiar with the legal and ethical issues involved in genetic testing to tell patients how w ell a particular genetic risk factor relates with likelihood of disease, and be able to provide appropriate genetic counseling. Genetic counseling become a mandatory requirement as global standard for many genetic testing such as prenatal diagnosis, presymtomatic DNA diagnostic tests and cancer susceptibility gene test for familial cancer syndrome. In oder to meet the challenge of genetic medicine of 21 century in korean health care system, professional education program and certification board for medical genetics specialist including non-MD genetic counselors should be addressed by medical society and regulatory policy of national health insurance reimbursement for genetic counseling to be in place to promote the implementation of clinical genetic service including genetic counseling for proper genetic testing.

• Journal of Science and Technology Studies
• /
• v.5 no.1 s.9
• /
• pp.55-92
• /
• 2005

The factors contributing to the formation of an important scientific concept in South Korea and its circulation in the society are the scientific knowledge that had been already formed, matured, and established in the U.S.A, Europe and Japan and has been introduced into Korea, and the institutions that have been formed during the recent modernization in South Korea. The concept of 'genetic information' cannot be an exception in this context. The concept of genetic information is the one that has been extended and intensified by the genomics and bioinformatics formed and matured through the Human Genome Projects from the former concept of inheritance or heredity within the framework of classical and molecular genetics. The purpose of this study was to find out 'how the production structure of genetic information in South Korea has been formed', under the perspective of the conceptual, epistemic, and institutional holisticity or integratedness in the concept and knowledge production structure idealized in Western advanced nations. The discourse of genetic engineering popular in the mid 1980's in South Korea has catalyzed the development of molecular biology. However, the institutional balance that had been established for the biochemistry departments in Natural Science College and Medical College was not formed between the genetic engineering and genetics departments in South Korea. Therefore, they were unable to achieve the more integrative and macro-level disciplinary impact on life sciences, largely due to institutional lack of the capable (human) genetics departments in some leading Korean colleges of Medicine. In genomics, the cutting-edge reprogramming and restructuring of the traditional genetics in the West, South Korea has not invested, even meagerly, in the infrastructure, fund, and research and development (R & D) for the Basic or First Phase of the research trajectory in the Human Genome Project. Without a minimal Basic Phase, the genomics research and development in Korea has been running more or less for the Advanced or Second Phase. Bioinformatics has started developing in Korea under a narrow perspective which regards it as a mere sub-discipline of information technology (IT). Having developed itself in parallel with genomics, bioinformatics contains its own unique logics and contents that can be both directly and indirectly connected to the information science and technology. As a result, bioinformatics reveals a defect in respect of being synergistically integrated into genetics and life sciences in Korea. Owing to the structural problem in the production, genetic information appears to be produced in a fragmented pattern in the Korean society since its fundamental base is weak and thin. A good example of the conceptual and institutional fragmentedness is that 'the genetics of individual identification' is not a normal integrated part of the Korean genetics, but a scientific practice exercised in the departments of legal medicine in a few Medical Colleges. And the environment contributing to the production structure of genetic information in South Korea today comprises 'sangmyung gonghak'(or life engineering) discourse and non-governmental organization movement.

• Journal of KIISE:Databases
• /
• v.34 no.5
• /
• pp.396-408
• /
• 2007

After the Human Genome Project finished the sequencing of a human DNA sequence, the concerns on protein functions are increasing. Since the structures of proteins are conserved in divergent evolution, their functions are determined by their structures rather than by their amino acid sequences. Therefore, if similarities between two protein structures are observed, we could expect them to have common biological functions. So far, a lot of researches on protein structure alignment have been performed. However, most of them use RMSD(Root Mean Square Deviation) as a similarity measure with which it is hard to judge the similarity level of two protein structures intuitively. In addition, they retrieve only one result having the highest alignment score with which it is hard to satisfy various users of different purpose. To overcome these limitations, we propose a novel protein structure alignment algorithm based on MRPD(Maximum of Residue Pair Distance) and SG (Similarity Graph). MRPD is more intuitive similarity measure by which fast tittering of unpromising pairs of protein pairs is possible, and SG is a compact representation method for multiple alignment results with which users can choose the most plausible one among various users' needs by providing multiple alignment results without compromising the time to align protein structures.

• Journal of the Korea Society of Computer and Information
• /
• v.11 no.6 s.44
• /
• pp.69-78
• /
• 2006

In the field of the bioinformatics, it plays an important role in predicting functional information or structure information to search similar sequence in biological DB. Biolrgical sequences have been increased dramatically since Human Genome Project. At this point, because the searching speed for the similar sequence is highly regarded as the important factor for predicting function or structure, the SMP(Sysmmetric Multi-Processors) computer or cluster is being used in order to improve the performance of searching time. As the method to improve the searching time of BLAST(Basic Local Alighment Search Tool) being used for the similarity sequence search, We suggest the nBLAST algorithm performing on the cluster environment in this paper. As the nBLAST uses the MPI(Message Passing Interface), the parallel library without modifying the existing BLAST source code, to distribute the query to each node and make it performed in parallel, it is possible to easily make BLAST parallel without complicated procedures such as the configuration. In addition, with the experiment performing the nBLAST in the 28 nodes of LINUX cluster, the enhanced performance according to the increase in the number of the nodes has been confirmed.

• The Korean Society of Law and Medicine
• /
• v.18 no.1
• /
• pp.237-264
• /
• 2017

With the onset of the Human Genome Project, social concerns about 'genetic information discrimination' have been raised, but the problem has not yet been highlighted in Korea. However, non-medical institutions' genetic testing which is related to disease prevention could be partially allowed under the revised "Bioethics and Safety Act" from June 30, 2016. In the case of one domestic insurance company, DTC genetic testing was provided for the new customer of cancer insurance as a complimentary service, which made the social changes related to the recognition of the genetic testing. At a time when precision medicine is becoming a new standard for medical care, discipline on genetic information discrimination has become a problem that can not be delayed anymore. Article 46 and 67 of the Bioethics Act stipulate the prohibition of discrimination on grounds of genetic information and penalties for its violation. However, these broad principles alone can not solve the problems in specific genetic information utilization areas such as insurance and employment. The United States, Canada, the United Kingdom, and Germany have different regulations that prohibit genetic information based discrimination. In the United States, Genetic Information Non-Discrimination Act takes a form that adds to the existing law about the prohibition of genetic information discrimination. In addition, the range of genetic information includes the results of genetic tests of individuals and their families, including "family history". Canada has recently enacted legislation in 2017, expanding coverage to general transactions of goods or services in addition to insurance and employment. The United Kingdom deals only with 'predictive genetic testing results of individuals'. In the case of insurance, the UK government and Association of British Insurers (ABI) agree to abide by a policy framework ('Concordat') for cooperation that provides that insurers' use of genetic information is transparent, fair and subject to regular reviews; and remain committed to the voluntary Moratorium on insurers' use of predictive genetic test results until 1 November 2019, and a review of the Concordat in 2016. In the case of employment, The ICO's 'Employment Practices Code (2011)' is used as a guideline. In Germany, Human Genetic Examination Act(Gesetz ${\ddot{u}}ber$ genetische Untersuchungen bei Menschen) stipulates a principle ban on the demand for genetic testing and the submission of results in employment and insurance. The evaluation of the effectiveness of regulatory framework, as well as the form and scope of the discipline is different from country to country. In light of this, it would be desirable for the issue of genetic information discrimination in Korea to be addressed based on the review of related regulations, the participation of experts, and the cooperation of stakeholders.

• Journal of Science and Technology Studies
• /
• v.6 no.2 s.12
• /
• pp.131-183
• /
• 2006

The Korean genetics and genomics reveal a firm willingness to participate in and contribute to the production of creative scientific knowledge at a world level at present, though they have short past histories of introduction from the Western counterparts and those of education for the next generations. But the Korean genetics and genomics have been developed in a fragmented and biased manner. By reconfiguring the various research projects of genomics into the Genome Project of Korea, which reflect a worldly trend in life science, but have been established in a scattered fashion in Korea, and incorporating some neglected areas of genetics, such as human genetics and theoretical and population genetics which can be reconstructed in a new way, a genetics-genomics research system can be formulated on the multi-tiered perspective of concept, knowledge, and institution, while the system being a subsystem of the national research system of life science in Korea. Innovation can be pursued in the systematic practice through a culturalist strategy. The culturalist strategy with the practice based on the research system consists of 1) intensification of fundamentalness of genetics and genomics, 2) advancement of communitarianism in geneticist-genomicist community, 3) research on the cultural bio-species along with the promotion of scientific arts and culture, and 4)formation of the Korean science studies of genetics-genomics and the diffusion of the knowledge produced. The first two strategy components are the ones that intends to bring out changes in the structural aspect of the scientist community in Korea. The third is the one that attempts to magnify the interface between the scientist community and the Korean society at large and increase its connectivity between both, while the fourth is the one that has an intentionality toward the Korean society outside of the scientist community. This culturalist strategy is intended to increase the cultural constructivity of the genetics-genomics research system in Korea.