• Journal of Genetic Medicine
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• v.6 no.1
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• pp.38-55
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• 2009

Purpose: This study was undertaken to provide the framework for development of a genetic counseling training program, and an accreditation and certification process suitable for non-M.D. genetic counselors in Korea. Materials and Methods: Global standards of genetic counseling curriculums, training program accreditation (TPA), and the certification process for genetic counselors (CPGC) in the U.S.A and Japan were reviewed, and a questionnaire survey was performed to elicit opinions among health-care providers including physicians, nurses, technicians, researchers, and educators. In addition, input from professional communities, including the Korean Society of Medical Genetics (KSMG) and Institute for Genetic Testing Evaluation, was sought in formulating the framework of this study. Results: Comparison of U.S.A. and Japan educational systems showed similarities in curriculum, accreditation, and certification programs. Analysis of 117 respondents opinions showed a high level of agreement in the area of global standards; 88% indicated that KSMG should be in charge of TPA and CPGC, while 77% favored a certification exam composed of both written exam and interview components. Conclusion: Based upon this study we propose that the KSMG should be in charge of providing the TPA and CPGC for non-MD genetic counselors. Requirements for the entrance to a Master's degree genetic counseling program should be open to successful four year undergraduate students in all areas, provided the candidates demonstrate the abilities to master the graduate level of study in human genetics, clinical genetics, statistics, psychology, and other required subjects. Eligibility for certification should include qualified candidates of genetic counseling with no formally approved education, but a sufficient amount of clinical experience, in addition to accredited program graduates. Certification examinations should be carried out every two years and the certification should be good for five years, as is the case in Japan.

• 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.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.100-104
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• 2011

Genetic testing has been generalized for the diagnosis of diseases and is an important method of research with advances in the life sciences. In particular, we should give better attention to the genetic test for a fetus. Because the fetus has no autonomy, ethical and social issues can arise. Therefore, appropriate genetic counseling is needed for parents to be informed with the characteristics, natural progress, and possible treatment of a genetic disease, prior to the prenatal genetic test. Physicians should also inform parents how a particular genetic risk factor relates with the likelihood of a disease, in order to assist the parents in making the best decision. Furthermore, the current law for prenatal genetic testing should be approached rationally.

• The Journal of Korean Academic Society of Nursing Education
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• v.19 no.4
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• pp.675-683
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• 2013

Purpose: Nineteen articles were analyzed to gather opinions and nursing implications about NIPT recently launched. Methods: Nineteen articles were selected from EBSCO (eBook business collection), Google Scholar, and two Korean academic d-bases with key words 'prenatal screening testing', 'prenatal genetic diagnostic testing', NIPT or 'cell free DNA (cfDNA)'. Authors developed a framework for analyzing the 19 articles including opinions and suggestions for future implications. Results: Eleven articles written by the first author affiliated with medicine or genetics, viewed NIPT as promising because of safety, accuracy, early detectability and cost effectiveness. Articles written by journalists or authors affiliated with history and ethics were concerned with the possible risk of ELSI (ethical, legal, social issues), erratic interpretation of test results, and lack of genetic counseling service. Conclusion: With consideration of Korean clinical, and legal circumstances, not only pregnant women and families but also health professionals must prepare for clinical NIPT implications including updating prenatal genetic testing, counseling services, protecting ELSI and amulticultural team approach.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.124-127
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• 2013

Among cause of carcinogenesis, heredity is believed to take about 10 percent in ovarian cancer. BRCA1 or BRCA2 account for largest portion of Hereditary Breast and Ovary Cancer (HBOC). Frequency of BRCA1/2 germ line mutations varies according to region and ethnicity from 1.1-39.7 percent. The identification of ovarian cancers with a BRCA mutation is will be more and important due to the possibility to offer a genetic counseling and also due to potential beneficial treatment effects with a poly-ADP-ribose polymerase inhibitor in some individuals. We report the case of a 41 year old woman with a stage Ic mucinous ovarian adenocarcinoma and carrier daughter found on family genetic counseling. We indentified other family members with a history of breast cancer of 1st degree and pancreatic cancer of 2nd degree relative. After a screening with immunohistochemistry, the absence of nuclear expression for BRCA1 and BRCA2 was revealed. The gene sequencing confirmed heterozygous mutations of BRCA2 gene. The daughter of the case subject consented for a test. This test was shown the daughter is positive for BRCA2 mutation. Regular surveillance, chemoprophylaxis with oral contraceptive and prophylactic surgery after childbearing were offered to her.

• 대한생식의학회:학술대회논문집
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• 2005.11a
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• pp.36-48
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• 2005

• 대한생식의학회:학술대회논문집
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• 2001.11a
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• pp.45-56
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• 2001

• Journal of Korean Academy of Nursing
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• v.33 no.8
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• pp.1083-1092
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• 2003

Purpose. The purpose of the study was to assess the level of nurses' genetic knowledge and the perception of nurses' role in genetics. The ultimate goal of this paper is to educate practicing nurses so that they can counsel individuals and families with genetic problems, on the basis of better understanding of genetic diseases. Methods. A total of 969 clinical nurses in 11 general hospitals completed a self-administered questionnaire including basic genetic knowledge and perception of their role. The instruments were made by the author with the help of some experts on genetics. T-test, ANOVA, and Pearson Correlation were used to analyze the data. Results. The results of this study indicated that nurses revealed a vast knowledge deficit in genetics and the need for genetic content in nursing curriculum. The results also showed that nurses' sources of information about genetics largely came from the mass media. The nurses also expressed great interest in educating and counseling patients. Overall, the survey found a positive correlation between the nurses' level of knowledge and their degree of interest in genetics. Conclusion. In conclusion, education and training of clinical nurses in genetics is critical in integrating genetics with nursing science. Therefore, the development of educational programs for nursing knowledge and counseling as well as basic curriculums in genetic nursing at universities are essential in the near future.

• Women's Health Nursing
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• v.25 no.4
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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.

• Journal of Genetic Medicine
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• v.15 no.2
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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.