• Genomics & Informatics
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• 제12권4호
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• pp.151-155
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• 2014

In November 2013, the US Food and Drug Administration (FDA) sent a warning letter to 23andMe, Inc. and ordered the company to discontinue marketing of the 23andMe Personal Genome Service (PGS) until it receives FDA marketing authorization for the device. The FDA considers the PGS as an unclassified medical device, which requires premarket approval or de novo classification. Opponents of the FDA's action expressed their concerns, saying that the FDA is overcautious and paternalistic, which violates consumers' rights and might stifle the consumer genomics field itself, and insisted that the agency should not restrict direct-to-consumer (DTC) genomic testing without empirical evidence of harm. Proponents support the agency's action as protection of consumers from potentially invalid and almost useless information. This action was also significant, since it reflected the FDA's attitude towards medical application of next-generation sequencing techniques. In this review, we followed up on the FDA-23andMe incident and evaluated the problems and prospects for DTC genetic testing.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.55-63
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• 2018

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.

• Journal of Genetic Medicine
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• 제5권2호
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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.

• 의학교육논단
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• 제16권1호
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• pp.50-54
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• 2014

It is becoming increasingly important for medical doctors to have a thorough understanding of human genetics and the ethical, legal, and social implications of genetic testing, counseling, and treatment. As genetic engineering and technology evolves, medical doctors will find themselves called in to counsel patients about a rapidly increasing number of diseases for which genetic testing and treatments are available. Medical doctors will need to master a new set of principles and clinical skills. A lack of knowledge about these issues and problems may lead to serious, lifelong or even fatal negative effects on patients. Medical genetics has moved from the study of rare conditions to the illumination of disorders that impact the entire spectrum of medical practice. This study demonstrates several areas in which medical genetics is clearly an important tool in medical practice and the necessity of establishing new curriculum for clinical genetic education in Korea. Medical students nearing graduation may lack genetic knowledge that is essential for daily practice because genetics has little or no place in clinical teaching. Medical schools should make extensive curriculum changes to increase students' awareness of clinical genetics and its ethical implications. The medical school curriculum will need creative new approaches to keeping up with the rapid pace of evolution of clinical genetics.

• 여성건강간호학회지
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• 제25권4호
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• pp.365-378
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• 2019

Purpose: The awareness of hereditary breast and ovarian cancer (HBOC) and BRCA testing is increasing in Korea. Compared to the sizable research on HBOC knowledge among breast cancer women, studies in the ovarian cancer population are limited. This paper aimed to investigate the level of knowledge of hereditary ovarian cancer and anxiety in women diagnosed with serous ovarian cancer in Korea and determine differences in the knowledge and anxiety according to whether genetic testing was undertaken and whether BRCA1 or BRCA2 mutations were present. Methods: Using a descriptive research design, a cross-sectional survey was conducted on 100 women diagnosed with serous ovarian cancer at N hospital in Gyeonggi-do, Korea, from July to November 2018. The collected data were analyzed by descriptive statistics, independent t-tests, one-way analysis of variance, and Pearson's correlation coefficient using the SPSS 21.0 program. Results: The hereditary ovarian cancer-related knowledge score was mid-level (mean score 8.90±3.29 out of a total of 17), as was the state anxiety level was mid-level (mean score 47.96±3.26 out of possible score range of 20-80). Genetic knowledge of hereditary ovarian cancer was associated with age, education, occupation, genetic counseling, and BRCA mutations. There were no statistically significant factors related to anxiety and there were no statistically significant correlations between knowledge level and anxiety. Conclusion: More comprehensive education on gene-related cancer is needed for ovarian cancer patients, especially for items with low knowledge scores. A genetic counseling protocol should be developed to allow more patients to alleviate their anxiety through genetic counseling.

• 한국식물생명공학회:학술대회논문집
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• 한국식물생명공학회 2005년도 추계학술대회 및 한일 식물생명공학 심포지엄
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• pp.329-329
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• 2005

• 한국식물생명공학회:학술대회논문집
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• 한국식물생명공학회 2005년도 추계학술대회 및 한일 식물생명공학 심포지엄
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• pp.335-335
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• 2005

• Journal of Korean Neurosurgical Society
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• 제63권5호
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• pp.550-558
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• 2020

To perform a systematic review of the data collected from case-control studies conducted earlier to investigate the correlation between E-selectin S128R polymorphism and ischemic stroke (IS) risk among the Chinese population. The PubMed, Web of Science, Chinese biomedical literature database (CBM), Chinese databases China National Knowledge Infrastructure (CNKI), WanfangData knowledge service platform (Wanfang Data), and information resource integration service platform (VIP) Databases were searched to retrieve case-control studies on the correlation between E-selectin gene S128R polymorphism and IS from the inception of the database till June 2019. The literature was screened, data were extracted, the risk of bias was reviewed, and the studies included were assessed independently by two reviewers. Stata ver. 12.0 software (Stata Corp LLC, College Station, TX, USA) was used to perform the meta-analysis. A total of 2907 cases from eight case-control studies involving 1478 IS patients and 1429 controls were included in this study. The R allele and RS genotype in E-selectin were found to be associated with the risk of IS as per the results of the meta-analysis (R vs. S : odds ratio [OR], 2.75; 95% confidence interval [CI], 2.15-3.51; p<0.00001; RS vs. SS : OR, 2.50; 95% CI, 1.95-3.19; p<0.00001; RR+RS vs. SS : OR, 2.85, 95% CI, 2.21-3.67; p<0.00001). The E-selectin gene S128R polymorphism is likely related to IS based on the results of a meta-analysis in the Chinese population, and the R allele and RS genotype of E-selectin may be IS risk factors.

• 종양간호연구
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• 제11권3호
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• pp.200-209
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• 2011

Purpose: The purpose of this micro-ethnography is to examine whether science and societal changes impact family communication patterns among a convenience sample of 16 Korean women. Methods: The authors observed family communication in the context of a new breast cancer genetic screening and diagnostic testing program to detect BRCA gene mutations in Korean women at highest risk. Results: Analysis of in-depth interviews and field notes taken during participant observation illustrated that communication patterns in families vary according to a woman's position in the family. If a grandmother tests positive for a gene mutation, her daughters make decisions on her behalf; they open and maintain the communication channel among family members. If a housewife is diagnosed with cancer and a genetic mutation, she immediately consults her husband and her sisters. The husband creates an open communication channel between his wife, his parents and his siblings. As a result, a woman's cancer is a concern for the whole family not merely a woman's secret or crisis. Conclusion: Cultural differences are important to consider when designing new genetic service programs in different countries.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.43-48
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• 2022

A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary findings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.