• Title/Summary/Keyword: Precision medicine

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Perspective of a New Precision Medicine and Health Care Research (새로운 맞춤형 정밀의학과 보건의료 연구에 대한 조망)

  • Park, Yoon Hyung
    • Health Policy and Management
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    • v.25 no.4
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    • pp.253-255
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    • 2015
  • The concept of precision medicine-prevention and treatment strategies that take individual variability into account-is hot issue of US in the year 2015. Precision medicine is a new concept that approach patients individually by there characteristics, such as genome, life style, environmental exposure, etc. For developing the precision medicine, National Institute of Health of US has been prepared the Precision Medicine Initiative Cohort Program, at least 1 million people cohort. The US President Obama announced the Precision Medicine Initiative on 30th January 2015. He announced that he will pioneer a new model of patient-powered research that promises to accelerate biomedical discoveries and provide clinicians with new tools, knowledge, and therapies to select which treatments will work best for which patients. Most medical treatments have been designed for the 'average patient.' As a result of this 'one-size-fits-all-approach,' treatments can be very successful for some patients but not for others. This is changing with the emergence of precision medicine, an innovative approach to disease prevention and treatment that takes into account individual differences in people's genes, environments, and lifestyles. Precision medicine gives clinicians tools to better understand the complex mechanisms underlying a patient's health, disease, or condition, and to better predict which treatments will be most effective. The healthcare researcher should prepare the new medicine era such as bio-information technology convergence, big data study.

Precision Medicine in Head and Neck Cancer (두경부암에서 정밀의료)

  • Hye-sung Park;Jin-Hyoung Kang
    • Korean Journal of Head & Neck Oncology
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    • v.39 no.1
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    • pp.1-9
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    • 2023
  • Technological advancement in human genome analysis and ICT (information & communication technologies) brought 'precision medicine' into our clinical practice. Precision medicine is a novel medical approach that provides personalized treatments tailored to each individual by precisely segmenting patient populations, based on robust data including a person's genetic information, disease information, lifestyle information, etc. Precision medicine has a potential to be applied to treating a range of tumors, in addition to non-small cell lung cancer, in which precision oncology has been actively practiced. In this article, we are reviewing precision medicine in head and neck cancer (HNC) with focus on tumor agnostic biomarkers and treatments such as NTRK, MSI-H/dMMR, TMB-H and BRAF V600E, all of which were recently approved by U.S. Food and Drug Administration (FDA).

A Study on the Improvement of Information Security Model for Precision Medicine Hospital Information System(P-HIS) (정밀의료 병원정보시스템(P-HIS) 정보보호모델 개선 방안에 관한 연구)

  • Dong-Won Kim
    • Convergence Security Journal
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    • v.23 no.1
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    • pp.79-87
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    • 2023
  • Precision Medicine, which utilizes personal health information, genetic information, clinical information, etc., is growing as the next-generation medical industry. In Korea, medical institutions and information communication companies have coll aborated to provide cloud-based Precision Medicine Hospital Information Systems (P-HIS) to about 90 primary medical ins titutions over the past five years, and plan to continue promoting and expanding it to primary and secondary medical insti tutions for the next four years. Precision medicine is directly related to human health and life, making information protecti on and healthcare information protection very important. Therefore, this paper analyzes the preliminary research on inform ation protection models that can be utilized in cloud-based Precision Medicine Hospital Information Systems and ultimately proposes research on ways to improve information protection in P-HIS.

A Study on Applications of Healthcare & Medicine Information Protection for Cloud-Based Precision Medicine (클라우드 기반 안전한 정밀의료 실현을 위한 보건의료정보 보호 적용 방안에 관한 연구)

  • Dong-Won Kim
    • Convergence Security Journal
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    • v.22 no.3
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    • pp.69-77
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    • 2022
  • Globally, the medical field is growing very fast with technology development and convergence with ICT technology, and Precision Medicine using personal health information, genetic information, and clinical information is growing into a next-generation medical industry. Since Precision Medicine deals with individual health and life, the issues of personal information protection and health and medical information protection are emerging.Accordingly, this paper presents security improvements by domestic and foreign standards, laws, and systems in the cloud and medical field, and proposes a plan to protect healthcare and medicine information protection for safe Precision Medicine.

Establishment of the large-scale longitudinal multi-omics dataset in COVID-19 patients: data profile and biospecimen

  • Jo, Hye-Yeong;Kim, Sang Cheol;Ahn, Do-hwan;Lee, Siyoung;Chang, Se-Hyun;Jung, So-Young;Kim, Young-Jin;Kim, Eugene;Kim, Jung-Eun;Kim, Yeon-Sook;Park, Woong-Yang;Cho, Nam-Hyuk;Park, Donghyun;Lee, Ju-Hee;Park, Hyun-Young
    • BMB Reports
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    • v.55 no.9
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    • pp.465-471
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    • 2022
  • Understanding and monitoring virus-mediated infections has gained importance since the global outbreak of the coronavirus disease 2019 (COVID-19) pandemic. Studies of high-throughput omics-based immune profiling of COVID-19 patients can help manage the current pandemic and future virus-mediated pandemics. Although COVID-19 is being studied since past 2 years, detailed mechanisms of the initial induction of dynamic immune responses or the molecular mechanisms that characterize disease progression remains unclear. This study involved comprehensively collected biospecimens and longitudinal multi-omics data of 300 COVID-19 patients and 120 healthy controls, including whole genome sequencing (WGS), single-cell RNA sequencing combined with T cell receptor (TCR) and B cell receptor (BCR) sequencing (scRNA(+scTCR/BCR)-seq), bulk BCR and TCR sequencing (bulk TCR/BCR-seq), and cytokine profiling. Clinical data were also collected from hospitalized COVID-19 patients, and HLA typing, laboratory characteristics, and COVID-19 viral genome sequencing were performed during the initial diagnosis. The entire set of biospecimens and multi-omics data generated in this project can be accessed by researchers from the National Biobank of Korea with prior approval. This distribution of large-scale multi-omics data of COVID-19 patients can facilitate the understanding of biological crosstalk involved in COVID-19 infection and contribute to the development of potential methodologies for its diagnosis and treatment.

Ultra-rare Disease and Genomics-Driven Precision Medicine

  • Lee, Sangmoon;Choi, Murim
    • Genomics & Informatics
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    • v.14 no.2
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    • pp.42-45
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    • 2016
  • Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.

Precision Medicine in Castration-Resistant Prostate Cancer (거세저항성전립선암에서 정밀의학에 대한 고찰)

  • Kim, Won Tae;Yun, Seok Joong;Kim, Wun-Jae
    • The Korean Journal of Urological Oncology
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    • v.16 no.3
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    • pp.97-102
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    • 2018
  • Prostate cancer is usually managed by androgen deprivation therapy after failure of primary treatment. However, such therapies are only temporarily effective in prostate cancer patients, and the most patients experience the progression to castration-resistant prostate cancer (CRPC). Docetaxel chemotherapy is conventional effective treatment for CRPC but has many adverse effects. In CRPC patients, treatment decisions were not typically base on the recognitions of inter-individual differences. Therefore, there are growing interests for precision medicine in CRPC. In this review, we summarized the precision medicine such as candidate target genes and potential therapies in CRPC.

Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population

  • Jang, Hye-Mi;Hwang, Mi Yeong;Kim, Bong-Jo;Kim, Young Jin
    • Genomics & Informatics
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    • v.19 no.4
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    • pp.37.1-37.7
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    • 2021
  • Genome-wide association studies (GWASs) facilitated the discovery of countless disease-associated variants. However, GWASs have mostly been conducted in European ancestry samples. Recent studies have reported that these European-based association results may reduce disease prediction accuracy when applied in non-Europeans. Therefore, previously reported variants should be validated in non-European populations to establish reliable scientific evidence for precision medicine. In this study, we validated known associations with type 2 diabetes (T2D) and related metabolic traits in 125,850 samples from a Korean population genotyped by the Korea Biobank Array (KBA). At the end of December 2020, there were 8,823 variants associated with glycemic traits, lipids, liver enzymes, and T2D in the GWAS catalog. Considering the availability of imputed datasets in the KBA genome data, publicly available East Asian T2D summary statistics, and the linkage disequilibrium among the variants (r2 < 0.2), 2,900 independent variants were selected for further analysis. Among these, 1,837 variants (63.3%) were statistically significant (p ≤ 0.05). Most of the non-replicated variants (n = 1,063) showed insufficient statistical power and decreased minor allele frequencies compared with the replicated variants. Moreover, most of known variants showed <10% genetic heritability. These results could provide valuable scientific evidence for future study designs, the current power of GWASs, and future applications in precision medicine in the Korean population.

Calculation of the Least Significant Change Value of Bone Densitometry Using a Dual-Energy X-ray Absorptiometry System

  • Han-Kyung Seo;Do-Cheol Choi;Cheol-Min Shim;Jin-Hyeong Jo
    • The Korean Journal of Nuclear Medicine Technology
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    • v.27 no.2
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    • pp.95-98
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    • 2023
  • Purpose: The precision error of a bone density meter reflects the equipment and reproducibility of results by an examiner. Precision error values can be expressed as coefficient of variation (CV), CV%, and root mean square-SD (RMS-SD). The International Society for Clinical Densitometry (ISCD) currently recommends using RMS-SD as the precision error value. When a 95% confidence interval is applied, the least significant change (LSC) value is calculated by multiplying the precision error value by 2.77. Exceeding the LSC value reflects a significant difference in measured bone density. Therefore, the LSC value of a bone density equipment is an essential factor for accurately determining a patient's bone density. Accordingly, we aimed to calculate the LSC value of a bone density meter (Lunar iDXA, GE) and compare it with the value recommended by the ISCD. We also assessed whether the value measured by the iDXA equipment was below the LSC value recommended by ISCD. Material and Methods: The bone densities of the lumbar spine and thighs of 30 participants were measured twice, and the LSC values were calculated using the precision calculation tool provided by the ISCD (http://www.iscd.org). To check the reproducibility of the measurement, patients were asked to completely dismount from the equipment after the first measurement; the patient was then repositioned before proceeding with the second measurement. Results: The LSC values derived using the CV% values recommended by the ISCD were 5.3% for the lumbar spine and 5.0% for the thigh. The LSC values measured using our bone density equipment were 2.47% for the lumbar spine and 1.61% for the thigh. The LSC value using RMS-SD was 0.031 g/cm2 for the lumbar spine and 0.017 g/cm2 for the thigh. Conclusion: that the findings confirm that the CV% value measured using our bone density meter and the LSC value using RMS-SD were maintained very stably. This can be helpful for obtaining accurate measurements during bone density follow-up examinations.

Strategic Application of Epigenetic Regulators for Efficient Neuronal Reprogramming of Human Fibroblasts

  • Gary Stanley Fernandes;Rishabh Deo Singh;Debojyoti De;Kyeong Kyu Kim
    • International Journal of Stem Cells
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    • v.16 no.2
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    • pp.156-167
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    • 2023
  • Background and Objectives: Cellular reprogramming in regenerative medicine holds great promise for treating patients with neurological disorders. In this regard, small molecule-mediated cellular conversion has attracted special attention because of its ease of reproducibility, applicability, and fewer safety concerns. However, currently available protocols for the direct conversion of somatic cells to neurons are limited in clinical application due of their complex nature, lengthy process, and low conversion efficiency. Methods and Results: Here, we report a new protocol involving chemical-based direct conversion of human fibroblasts (HF) to matured neuron-like cells with a short duration and high conversion efficiency using temporal and strategic dual epigenetic regulation. In this protocol, epigenetic modulation by inhibition of histone deacetylase and bromodomain enabled to overcome "recalcitrant" nature of adult fibroblasts and shorten the duration of neuronal reprogramming. We further observed that an extended epigenetic regulation is necessary to maintain the induced neuronal program to generate a homogenous population of neuron-like cells. Conclusions: Therefore, our study provides a new protocol to produce neurons-like cells and highlights the need of proper epigenetic resetting to establish and maintain neuronal program in HF.