• Journal of Genetic Medicine
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• v.12 no.2
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• pp.96-99
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• 2015

Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.

• Genomics & Informatics
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• v.11 no.4
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• pp.174-179
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• 2013

The large amount of data on cancer genome research has contributed to our understanding of cancer biology. Indeed, the genomics approach has a strong advantage for analyzing multi-factorial and complicated problems, such as cancer. It is time to think about the actual usage of cancer genomics in the clinical field. The clinical cancer field has lots of unmet needs in the management of cancer patients, which has been defined in the pre-genomic era. Unmet clinical needs are not well known to bioinformaticians and even non-clinician cancer scientists. A personalized approach in the clinical field will bring potential additional challenges to cancer genomics, because most data to now have been population-based rather than individualbased. We can maximize the use of cancer genomics in the clinical field if cancer scientists, bioinformaticians, and clinicians think and work together in solving unmet clinical needs. In this review, we present one imaginary case of a cancer patient, with which we can think about unmet clinical needs to solve with cancer genomics in the diagnosis, prediction of prognosis, monitoring the status of cancer, and personalized treatment decision.

• The Korean Journal of Blood Transfusion
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• v.29 no.3
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• pp.310-319
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• 2018

Background: Research on next-generation sequencing (NGS)-based HLA typing is active. To resolve the phase ambiguity and long turn-around-time of conventional high resolution HLA typing, this study developed a NGS-based high resolution HLA typing method that can handle large-scale samples within an efficient testing time. Methods: For HLA NGS, the condition of nucleic acid extraction, library construction, PCR mechanism, and HLA typing with bioinformatics were developed. To confirm the accuracy of the NGS-based HLA typing method, the results of 192 samples HLA typed by SSOP and 28 samples typed by SBT compared to NGS-based HLA-A, -B and -DR typing. Results: DNA library construction through two-step PCR, NGS sequencing with MiSeq (Illumina Inc., San Diego, USA), and the data analysis platform were established. NGS-based HLA typing results were compatible with known HLA types from 220 blood samples. Conclusion: The NSG-based HLA typing method could handle large volume samples with high-throughput. Therefore, it would be useful for HLA typing of bone marrow donation volunteers.

• 대한임상약리학회:학술대회논문집
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• 2007.11a
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• pp.97-97
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• 2007

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• The Journal of Internal Korean Medicine
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• v.28 no.2
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• pp.363-376
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• 2007

Objectives : This study was undertaken to learn what should be considered in a good clinical trial investigating a herbal medicine as an antidepressant. Methods : Five well-designed clinical trials published from 2000 to 2006 investigating SJWE in depressive disorder were selected. The trials were reviewed and compared in terms of methodology such as trial design, patient selection, efficacy & safety evaluation, and so on. On the basis of this review of the trials and the regulations and guidelines of KFDA, we suggest some points to be considered for a good clinical trial of a herb for depression. Results : Although every trial had its own unique design, procedure, objectives and so on, all trials used randomizing and double blinding methods. If there is no ethical problem, a placebo-controlled design should be considered in a herbal antidepressant clinical trial for depression. Conclusions : Some points to be considered in an optimal & good clinical trial for an antidepressive herbal medicine were suggested as follows: 1) randomizing and double blinding manner is essential, 2) if there is no ethical problem, placebo control design should be considered, 3) the trial period should be 6 weeks, 4) out-patients will be recruited as subjects, 5) investigators will be well-trained psychiatrists or medical doctors, 6) the number of subjects should be calculated by statistical methods, 7) subjects should be diagnosed by DSM-IV criteria, 8) subjects who have current risk of committing suicide should be excluded, etc.

• Genomics & Informatics
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• v.17 no.1
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• pp.1.1-1.2
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• 2019

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1693-1698
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• 2015

The heterogeneous nature of lung cancer has become increasingly apparent since introduction of molecular classification. In general, advanced lung cancer is an aggressive malignancy with a poor prognosis. Activating alterations in several potential driver oncogenic genes have been identified, including EGFR, ROS1 and ALK and understanding of their molecular mechanisms underlying development, progression, and survival of lung cancer has led to the design of personalized treatments that have produced superior clinical outcomes in tumours harbouring these mutations. In light of the tsunami of new biomarkers and targeted agents, next generation sequencing testing strategies will be more appropriate in identifying the patients for each therapy and enabling personalized patients care. The challenge now is how best to interpret the results of these genomic tests, in the context of other clinical data, to optimize treatment choices. In genomic era of cancer treatment, the traditional one-size-fits-all paradigm is being replaced with more effective, personalized oncologic care. This review provides an overview of lung cancer genomics and personalized treatment.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2005.09a
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• pp.29-34
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• 2005

DNA microarray becomes a major tool for the investigation of global gene expression in all aspects of cancer and biomedical research. DNA microarray experiment generates enormous amounts of data and they are meaningful only in the context of a detailed description of microarrays, biomaterials, and conditions under which they were generated. MicroArray Gene Expression Data (MGED) society has established microarray standard for structured management of these diverse and large amount data. MGED MAGE-OM (MicroArray Gene Expression Object Model) is an object oriented data model, which attempts to define standard objects for gene expression. To assess the relevance of DNA microarray analysis of cancer research it is required to combine clinical and genomics data. MAGE-OM, however, does not have an appropriate structure to describe clinical information of cancer. For systematic integration of gene expression and clinical data, we create a new model, Cancer Genomics Object Model.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.1-6
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• 2022

Radiation therapy (RT) is a very important treatment for cancer that irradiates a large amount of radiation to lead cancer cells and tissues to death. The progression of RT in the aspect of personalized medicine has greatly advanced over the past few decades in the field of technical precision responding anatomical characteristics of each patient. However, the consideration of biological heterogeneity that makes different effect in individual patients has not actually applied to clinical practice. There have been numerous discovery and validation of biomarkers that can be applied to improve the efficiency of radiotherapy, among which those related to genomic information are very promising developments. These genome-based biomarkers can be applied to identify patients who can benefit most from altering their therapeutic dose and to select the best chemotherapy improving sensitivity to radiotherapy. The genomics-based biomarkers in radiation oncology focus on mutational changes, particularly oncogenes and DNA damage response pathways. Although few have translated into clinically viable tools, there are many promising candidates in this field. In this review the prominent mutation-based biomarkers and their potential for clinical translation will be discussed.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.89-93
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• 2008

"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the $21^{st}$ century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.