• Title/Summary/Keyword: Genetic risk assessment

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Monitoring and Environmental Risk Assessment of Genetically Modified Microalgae (유전자변형 미세조류의 생태 유출 모니터링 및 위해성평가 연구)

  • Cho, Kichul;Jeon, Hancheol;Hwang, Hyun-Ju;Hong, Ji Won;Lee, Dae-Sung;Han, Jong Won
    • Journal of Marine Bioscience and Biotechnology
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    • v.11 no.2
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    • pp.52-61
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    • 2019
  • Over the past few decades, microalgae-based biotechnology conjugated with innovative CRISPR/Cas9-mediated genetic engineering has been attracted much attention for the cost-effective and eco-friendly value-added compounds production. However, the discharge of reproducible living modified organism (LMO) into environmental condition potentially causes serious problem in aquatic environment, and thus it is essential to assess potential environmental risk for human health. Accordingly, in this study, we monitored discharged genetically modified microalgae (GMM) near the research complex which is located in Daejeon, South Korea. After testing samples obtained from 6 points of near streams, several green-colored microalgal colonies were detected under hygromicin-containing agar plate. By identification of selection marker genes, the GMM was not detected from all the samples. For the lab-scale environmental risk assessment of GMM, acute toxicity test using rotifer Brachionus calcyflorus was performed by feeding GMM. After feeding, there was no significant difference in mortality between WT and transformant Chlamydomonas reinhardtii. According to further analysis of horizontal transfer of green fluorescence protein (GFP)-coding gene after 24 h of incubation in synthetic freshwater, we concluded that the GFP-expressed gene not transferred into predator. However, further risk assessments and construction of standard methods including prolonged toxicity test are required for the accurate ecological risk assessment.

Risk Assessment and Pharmacogenetics in Molecular and Genomic Epidemiology

  • Park, Sue-K.;Choi, Ji-Yeob
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.6
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    • pp.371-376
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    • 2009
  • In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.

Challenge of Personalized Medicine in the Genomic Era (유전의료시대의 "맞춤의학")

  • Kim, Hyon-J.
    • 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.

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Electronic Risk Assessment System as an Appropriate Tool for the Prevention of Cancer: a Qualitative Study

  • Amoli, Amir hossein Javan;Maserat, Elham;Safdari, Reza;Zali, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.18
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    • pp.8595-8598
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    • 2016
  • Background: Decision making modalities for screening for many cancer conditions and different stages have become increasingly complex. Computer-based risk assessment systems facilitate scheduling and decision making and support the delivery of cancer screening services. The aim of this article was to survey electronic risk assessment system as an appropriate tool for the prevention of cancer. Materials and Methods: A qualitative design was used involving 21 face-to-face interviews. Interviewing involved asking questions and getting answers from exclusive managers of cancer screening. Of the participants 6 were female and 15 were male, and ages ranged from 32 to 78 years. The study was based on a grounded theory approach and the tool was a semi-structured interview. Results: Researchers studied 5 dimensions, comprising electronic guideline standards of colorectal cancer screening, work flow of clinical and genetic activities, pathways of colorectal cancer screening and functionality of computer based guidelines and barriers. Electronic guideline standards of colorectal cancer screening were described in the s3 categories of content standard, telecommunications and technical standards and nomenclature and classification standards. According to the participations' views, workflow and genetic pathways of colorectal cancer screening were identified. Conclusions: The study demonstrated an effective role of computer-guided consultation for screening management. Electronic based systems facilitate real-time decision making during a clinical interaction. Electronic pathways have been applied for clinical and genetic decision support, workflow management, update recommendation and resource estimates. A suitable technical and clinical infrastructure is an integral part of clinical practice guidline of screening. As a conclusion, it is recommended to consider the necessity of architecture assessment and also integration standards.

Preventive and Risk Reduction Strategies for Women at High Risk of Developing Breast Cancer: a Review

  • Krishnamurthy, Arvind;Soundara, Viveka;Ramshankar, Vijayalakshmi
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.895-904
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    • 2016
  • Breast cancer is the most commonly diagnosed invasive cancer among women. Many factors, both genetic and non-genetic, determine a woman's risk of developing breast cancer and several breast cancer risk prediction models have been proposed. It is vitally important to risk stratify patients as there are now effective preventive strategies available. All women need to be counseled regarding healthy lifestyle recommendations to decrease breast cancer risk. As such, management of these women requires healthcare professionals to be familiar with additional risk factors so that timely recommendations can be made on surveillance/risk-reducing strategies. Breast cancer risk reduction strategies can be better understood by encouraging the women at risk to participate in clinical trials to test new strategies for decreasing the risk. This article reviews the advances in the identification of women at high risk of developing breast cancer and also reviews the strategies available for breast cancer prevention.

Experiences of Breast Cancer Women Undertaking Genetic Test (국내 고위험 유전성 유방암 환자의 유전자검사 경험)

  • Jun, Myung-Hee;Choi, Kyung-Sook;Ahn, Sei-Hyun;Gu, Bo-Kyung
    • Asian Oncology Nursing
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    • v.5 no.2
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    • pp.146-158
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    • 2005
  • Purpose: This study was to obtain a understanding of breast cancer women with high risk for hereditary cancer syndrome. Method: A micro-ethnography was used, including participation observation, open-ended in-depth interviews. Results: Two major arguments were derived. First, When Korean women at high risk to hereditary breast cancer make a decision about whether to take a genetic test, they are strongly motivated by a desire to preserve close kinship bonds and "family love" among their siblings, parents and children. Second, Even after genetic risk assessment and counseling services, Korean women at high-risk for developing a hereditary breast cancer who have been informed that they are mutation carriers, still hold onto previous beliefs about cancer causation. Their cancer prevention strategies are constructed according to their unchanged perceptions and beliefs about cancer causation. Conclusion: More sensitive genetic counseling program needs to be developed. Referral programs and clinical services must be attentive to cultural values and beliefs otherwise cultural attitudes and practices toward genetic counseling will not change.

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Score Based Risk Assessment of Lung Cancer and its Evaluation for Bangladeshi People

  • Mukti, Roushney Fatima;Samadder, Pratul Dipta;Emran, Abdullah Al;Ahmed, Farzana;Imran, Iqbal Bin;Malaker, Anyanna;Yeasmin, Sabina
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.17
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    • pp.7021-7027
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    • 2014
  • Background: The problem of cancer, especially lung cancer, is very acute in Bangladesh. The present study was conducted to evaluate the risk of lung cancer among Bangladeshi people based on hereditary, socio-economic and demographic factors. Materials and Methods: This study was carried out in 208 people (patients-104, controls-104) from January 2012 to September 2013 using a structured questionnaire containing details of lung cancer risk factors including smoking, secondhand smoke, tobacco leaf intake, age, gender, family history, chronic lung diseases, radiotherapy in the chest area, diet, obesity, physical activity, alcohol consumption, occupation, education, and income. Descriptive statistics and testing of hypotheses were used for the analysis using SPSS software (version 20). Results: According to this study, lung cancer was more prevalent in males than females. Smoking was the highest risk factor (OR=9.707; RR=3.924; sensitivity=0.8872 and P<0.0001) followed by previous lung disease (asthma, tuberculosis etc.) (OR=7.095; RR=1.508; sensitivity=0.316 and P<0.0001)) for male patients. Highly cooked food (OR=2.485; RR=1.126; sensitivity=0.418 and P=0.004)) and also genetic inheritance (OR=1.93; RR=1.335; sensitivity=0.163 and P=0.138) demonstrated significant correlation with lung cancer as risk factors after these two and alcohol consumption was not prevalent. On the other hand, for female patients, tobacco leaf intake represented the highest risk (OR=2.00; RR=1.429; sensitivity= 0.667 and P=0.5603) while genetic inheritance and highly cooked food also correlate with lung cancer but not so significantly. Socioeconomic status and education level also play important roles in causing lung cancer. Some 78.5% male and 83.3% of female cancer patients were rural residents, while 58.2% lived at the margin or below the poverty line. Most male (39.8%) and female (50.0%) patients had completed only primary level education, and 27.6% male and 33.3% female patients were illiterate. Smoking was found to be more prevalent among the less educated persons. Conclusions: The results obtained in this study indicate the importance of creating awareness about lung cancer risk factors among Bangladeshi people and making appropriate access to health services for the illiterate, poor, rural people.