• Title, Summary, Keyword: Genetic testing

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Direct-to-consumer genetic testing

  • Kim, Jong-Won
    • Genomics & Informatics
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    • v.17 no.3
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    • pp.34.1-34.3
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    • 2019
  • Direct-to-consumer (DTC) genetic testing is a controversial issue although Korean Government is considering to expand DTC genetic testing. Preventing the exaggeration and abusing of DTC genetic testing is an important task considering the early history of DTC genetic testing in Korea. And the DTC genetic testing performance or method has been rarely reported to the scientific and/or medical community and reliability of DTC genetic testing needs to be assessed. Law enforcement needs to improve these issues. Also principle of transparency needs to be applied.

Genetic testing in clinical pediatric practice

  • Yoo, Han Wook
    • Clinical and Experimental Pediatrics
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    • v.53 no.3
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    • pp.273-285
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    • 2010
  • Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

Multiple Group Testing Procedures for Analysis of High-Dimensional Genomic Data

  • Ko, Hyoseok;Kim, Kipoong;Sun, Hokeun
    • Genomics & Informatics
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    • v.14 no.4
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    • pp.187-195
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    • 2016
  • In genetic association studies with high-dimensional genomic data, multiple group testing procedures are often required in order to identify disease/trait-related genes or genetic regions, where multiple genetic sites or variants are located within the same gene or genetic region. However, statistical testing procedures based on an individual test suffer from multiple testing issues such as the control of family-wise error rate and dependent tests. Moreover, detecting only a few of genes associated with a phenotype outcome among tens of thousands of genes is of main interest in genetic association studies. In this reason regularization procedures, where a phenotype outcome regresses on all genomic markers and then regression coefficients are estimated based on a penalized likelihood, have been considered as a good alternative approach to analysis of high-dimensional genomic data. But, selection performance of regularization procedures has been rarely compared with that of statistical group testing procedures. In this article, we performed extensive simulation studies where commonly used group testing procedures such as principal component analysis, Hotelling's $T^2$ test, and permutation test are compared with group lasso (least absolute selection and shrinkage operator) in terms of true positive selection. Also, we applied all methods considered in simulation studies to identify genes associated with ovarian cancer from over 20,000 genetic sites generated from Illumina Infinium HumanMethylation27K Beadchip. We found a big discrepancy of selected genes between multiple group testing procedures and group lasso.

Genetic counseling in Korean health care system (유전상담의 제도적인 고찰)

  • Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.1-5
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    • 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.

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Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics

  • Park, Hyun-Young
    • Korean Circulation Journal
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    • v.47 no.3
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    • pp.291-298
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    • 2017
  • Dilated cardiomyopathy (DCM) is the most common cause of heart failure in young adults and up to 50% of idiopathic DCM is thought to be caused by genetic mutations in candidate genes. Although a genetic diagnosis can confirm a clinical diagnosis of hereditary DCM, genetic testing has not been easily accessible due to genetic heterogeneity and complexity. Next-generation sequencing (NGS) technologies have recently been introduced, and genetic testing for multiple genes is currently available and more than 40 different genes have been associated with DCM. In Korea, the government has supported genetic diagnosis for patients with idiopathic DCM. When a targeted gene panel with NGS technology was used, the detection rate was about 40%. MYBPC3, LMNA, and MYH7 were the most frequently identified genes, and the pattern of causative genes was different from previous reports. In the analysis, a significant number of subjects (42.0%) had rare or novel unspecified variants in DCM candidate genes, which should be assessed as potential causative mutations. Developing a more comprehensive test panel with additional DCM genes and whole exome sequencing will improve the detection rate, and allow genetic testing to be an option for patients with idiopathic DCM. However, all genetic variations are not pathogenic mutations, and the majority of reported mutations in DCM are unique to a single family, which makes genetic data interpretation more difficult. Therefore, clinical features and familial history integration are needed to improve clinical decision making.

Influence of the Angelina Jolie Announcement and Insurance Reimbursement on Practice Patterns for Hereditary Breast Cancer

  • Lee, Jihyoun;Kim, Sungwon;Kang, Eunyoung;Park, Suyeon;Kim, Zisun;Lee, Min Hyuk;The Korean Breast Cancer Society
    • Journal of Breast Cancer
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    • v.20 no.2
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    • pp.203-207
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    • 2017
  • Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A survey regarding changes in practice patterns for HBOC before and after the announcement was conducted online. The rate of BRCA gene testing was obtained from the National Health Insurance Review and Assessment Service database. From May to August 2016, 70 physicians responded to the survey. Genetic testing recommendations and prophylactic management were increased after the announcement. Risk-reducing salpingo-oophorectomy and contralateral prophylactic mastectomy was significantly increased in BRCA carriers with breast cancer. The BRCA testing rate increased annually. Health insurance and a celebrity announcement were associated with increased genetic testing.

Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel

  • Lee, Eun Hye
    • 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.

Test Set Generation for Pairwise Testing Using Genetic Algorithms

  • Sabharwal, Sangeeta;Aggarwal, Manuj
    • Journal of Information Processing Systems
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    • v.13 no.5
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    • pp.1089-1102
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    • 2017
  • In software systems, it has been observed that a fault is often caused by an interaction between a small number of input parameters. Even for moderately sized software systems, exhaustive testing is practically impossible to achieve. This is either due to time or cost constraints. Combinatorial (t-way) testing provides a technique to select a subset of exhaustive test cases covering all of the t-way interactions, without much of a loss to the fault detection capability. In this paper, an approach is proposed to generate 2-way (pairwise) test sets using genetic algorithms. The performance of the algorithm is improved by creating an initial solution using the overlap coefficient (a similarity matrix). Two mutation strategies have also been modified to improve their efficiency. Furthermore, the mutation operator is improved by using a combination of three mutation strategies. A comparative survey of the techniques to generate t-way test sets using genetic algorithms was also conducted. It has been shown experimentally that the proposed approach generates faster results by achieving higher percentage coverage in a fewer number of generations. Additionally, the size of the mixed covering arrays was reduced in one of the six benchmark problems examined.

Performance Comparison between Neural Network and Genetic Programming Using Gas Furnace Data

  • Bae, Hyeon;Jeon, Tae-Ryong;Kim, Sung-Shin
    • Journal of information and communication convergence engineering
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    • v.6 no.4
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    • pp.448-453
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    • 2008
  • This study describes design and development techniques of estimation models for process modeling. One case study is undertaken to design a model using standard gas furnace data. Neural networks (NN) and genetic programming (GP) are each employed to model the crucial relationships between input factors and output responses. In the case study, two models were generated by using 70% training data and evaluated by using 30% testing data for genetic programming and neural network modeling. The model performance was compared by using RMSE values, which were calculated based on the model outputs. The average RMSE for training and testing were 0.8925 (training) and 0.9951 (testing) for the NN model, and 0.707227 (training) and 0.673150 (testing) for the GP model, respectively. As concern the results, the NN model has a strong advantage in model training (using the all data for training), and the GP model appears to have an advantage in model testing (using the separated data for training and testing). The performance reproducibility of the GP model is good, so this approach appears suitable for modeling physical fabrication processes.

The Genetic Development of Sire, Dam and Progenies and Genotype ${\times}$ Environment Interaction in a Beef Breeding System

  • Bhuiyan, A.K.F.H.;Dietl, G.;Klautschek, G.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.1
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    • pp.13-17
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    • 2004
  • The aim of this study was to investigate genetic development and genotype${\times}$environment interactions (GEI) in postweaning body weight of fattening bulls at the end of test period (WT-T) under various beef fattening environments. Data on a total of 24,247 fattening bulls obtained from the industrial farm, breeding farms and testing stations were used. Heritability estimates for WT-T in all environments were nearly similar. Significant genetic developments of sire, dam and progenies for WT-T were observed in all environments. However, many differences in annual genetic developments between the environments were significant. The genetic correlations for WT-T between industrial farm and breeding farms, industrial farm and testing stations and breeding farms and testing stations were respectively 0.004, 0.004 and 0.013. These low estimates of genetic correlations and significant differences in genetic developments among environments clearly show the existence of GEI for WT-T among various fattening environments. Results of this study indicate the need for environment-specific genetic evaluation and selection of beef bulls for commercial beef production.