• The Korean Society of Law and Medicine
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• v.17 no.2
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• pp.85-124
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• 2016

The Human gene testing act (GenDG) in Germany starts from the characteristic features of gene testing, i.e. dualisting structure consisted of anlaysis on the one side and the interpretation on the other side. The linguistic distincion of 'testing', 'anlaysis' and 'judgment' in the act is a fine example. Another important basis of the regulation is the ideological purpose of the law, that is information autonomy. The normative texts as such and the founding principle are the basis of the classification of testing types. Especially in the case of gene testing for medical purpose is classified into testing for diagnostic purpose and predictive purpose. However, those two types are not always clearly differentiated because the predictive value of testing is common in both types. In the legal regulation of gene testing it is therefore important to manage the uncertainty and subjectivity which are inherent in the gene-analysis and the judgment. In GenDG the system ensuring the quality of analysis is set up and GEKO(Commity for gene tisting) based on the section 23 of GenDG concretes the criterium of validity through guidelines. It is also very important in the case of gene testing for medical purpose to set up the system for ensurement of procedural rationality of the interpretation. The interpretation of the results of analysis has a wide spectrum because of the consistent development of technology on the one side and different understandings of different subjects who performs gene testings. Therefore the process should include the communication process for patients in oder that he or she could understand the meaning of gene testing and make plans of life. In GenDG the process of genetic counselling and GEKO concretes the regulation very precisely. The regulation as such in GenDG seems to be very suggestive to Korean legal polic concerning the gene testing.

• Development and Reproduction
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• v.27 no.1
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• pp.47-56
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• 2023

Despite the commercialization of Next generation sequencing (NGS) gene testing, only a few studies have addressed the various ethical and legal problems associated with NGS testing in Korea Here, we reviewed the normative issues that emerged at each stage of the wet analysis and bioinformatics analysis of NGS gene testing. In particular, it was in mind to apply various international guidelines and the principles of bioethics to actual clinical practice. Considering the characteristics of NGS testing, wet analysis of additional testing can be justified if presumptive consent is recognized. Furthermore, the medical relationship between diseases needs to be established and it should be clear that the patient would have given consent if the patient had been aware of the correlation between genes. At the stage of bioinformatics analysis, the question of unsolicited findings arises. In case of unsolicited and relevant findings, according to American College of Medical Genetics and Genomics (ACMG), a recognized relationship between genes and diseases needs to be established. In case of unsolicited and not-relevant findings, it is almost impossible to determine whether knowing or not knowing the findings is more beneficial to the patient. However, it seems to be certain that the psychological harm an individual may suffer from such information is likely to be greater if the disease is severe and if there is no cure. The list of genes for which the ACMG guidelines impose reporting obligations is a good reference for judgment.

• The Korean Journal of Applied Statistics
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• v.2 no.1
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• pp.35-47
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• 1989

This article deals with the method of ML among the methods of estimating m gene frequenecies in the Generalized ABO-like Blood Group Systems and with the statistical testing about the differencies of gene frequencies by using these estimators. Especially, the generalization about the Homogeneity testing problem is tried and thus it enables us to test of Homogeneity of m gene frequencies. Finally, in the example, ML estimator is compared with other estimators suggested by Bernstein method, by adjusted Bernstein method and by modified Bernstein method, and statistical testing in the above is carried out by using orthogonal partitioning.

• Communications for Statistical Applications and Methods
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• v.13 no.1
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• pp.39-47
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• 2006

The Bayesian approach to multiple testing procedure for one sample testing problem proposed by Scott and Berger (2003) is extended to two-sample comparison problem in microarray experiments. The prior distribution of each gene's mean for one sample is given conditionally on the corresponding gene's mean for the other sample. Posterior distributions of interesting parameters are derived and estimated based on an importance sampling method. A simulated example is given for illustration.

• Proceedings of the Korean Society of Plant Biotechnology Conference
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• 2005.11a
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• pp.185-185
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• 2005

• Clinical and Experimental Pediatrics
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• v.61 no.4
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• pp.101-107
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• 2018

Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy. Here, several early infantile epilepsy syndromes with strong genetic associations are briefly reviewed, and their genotype-phenotype correlations are summarized. Because the clinical presentations of these disorders frequently overlap and have heterogeneous genetic causes, next-generation sequencing (NGS)-based gene panel testing represents a more powerful diagnostic tool than single gene testing. As genetic information accumulates, genetic testing will likely play an increasingly important role in diagnosing pediatric epilepsy. However, the efforts of clinicians to classify phenotypes in nondiagnosed patients and improve their ability to interpret genetic variants remain important in the NGS era.

• Development and Reproduction
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• v.19 no.2
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• pp.111-118
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• 2015

This article explores the questions regarding PND and PID, especially the concrete legal conditions for the justification of PND and PID. As such, the German law stipulating PND and PID in a very concrete and detailed manner is introduced and explained in comparison with the corresponding South Korean law. The South Korean Bioethics and Biosafety Act (BBA) stipulates various types of gene testing and does not demonstrate a delicate sense of each type of gene testing. In contrast to the South Korean regulation, in Germany, there exist specific regulations for genetic counseling. Especially in the case of PND, GEKO stipulates the process of genetic counseling very concretely, based on GenDG. In the case of PND and PID, it is important that the people concerned understand the meaning of testing in various angles, and restructuralize it by combining it with their own values as the diagnosis is directly combined with pregnancy/abortion, which influences the whole life of a woman (and her partner). In this context, the South Korean BBA needs to be amended as soon as possible. The sections on informed consent also need to be amended to make them more concrete. Furthermore, guidelines for concretizing the regulation of BBA need to be continuously formulated and developed.

• The Korean Journal of Applied Statistics
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• v.31 no.2
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• pp.241-251
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• 2018

The analysis of gene sets in microarray has advantages in interpreting biological functions and increasing statistical powers. Many statistical methods have been proposed for detecting significant gene sets that show relations between genes and phenotypes, but there is no consensus about which is the best to perform gene sets analysis and permutation based tests are considered as standard tools. When many gene sets are tested simultaneously, a large number of random permutations are needed for multiple testing with a high computational cost. In this paper, several parametric approximations are considered as alternatives of the permutation distribution and the moment based gene set test has shown the best performance for providing p-values of the permutation test closely and quickly on a general framework.

• Journal of Korean Neurosurgical Society
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• v.64 no.2
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• pp.309-315
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• 2021

Objective : To explore the correlation between the polymorphism of histone deacetylase 9 gene (rs1060499865, rs723296, rs957960) and ischemic stroke (IS) in Chinese Han population in Dali region. Methods : This study included 155 IS patients and 128 healthy physical examinees. TaqMan-polymerase chain reaction technology and multivariate logistic regression were performed. Results : In the case group, there was no polymorphism of rs1060499865 observed in the two groups; whereas on the rs723296 locus the frequencies of C allele and TC genotype were significantly higher than that in the control group, alleles C and T were associated with a 2.158-fold increase in IS risk, and genotypes TC and TT were associated with a 2.269-fold increase in IS risk. The locus rs957960 exhibited no significant difference between the two groups. Conclusion : An association between rs723296 and the risk of IS was found in the Chinese Han population in Dali region. No significant association was found between rs1060499865, rs957960 and IS in the Chinese Han population in Dali region.

• Tuberculosis and Respiratory Diseases
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• v.77 no.2
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• pp.49-54
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• 2014

The rapid development of targeted therapies has enormously changed the clinical management of lung cancer patients over the past decade; therefore, molecular testing, such as epidermal growth factor receptor (EGFR) gene mutations or anaplastic lymphoma kinase (ALK) gene rearrangements, is now routinely used to predict the therapeutic responses in lung cancer patients. Moreover, as technology and knowledge supporting molecular testing is rapidly evolving, the landscape of targetable genomic alterations in lung cancer is expanding as well. This article will summarize the current state of the most commonly altered and most clinically relevant genes in lung cancer along with a brief review of potential future developments in molecular testing of lung cancer.