• Journal of Genetic Medicine
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• 제6권1호
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• pp.38-55
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• 2009

목 적: 국내실정에 맞는 전문 유전상담사 교육프로그램과 교육기관의 인정 및 유전상담사의 전문 자격 인증 제도를 설립에 근거자료로 활용하고자 하였다. 대상 및 방법: 국외의 유전상담사 교육 프로그램 인정과 유전상담사 인증 제도를 파악하고, 관련 업무 종사자에게 설문조사를 실시하였으며, 전문가 회의를 통해 도출된 의견을 분석하였다. 결 과: 인정받은 교육기관 수료자만을 인증시험요건으로 규정한 미국과는 달리, 일본은 관련 분야의 임상경력을 갖춘자에게도 한시적으로 인증시험 자격을 부여하였다. 일본은 필기와 면접시험으로, 미국은 필기시험으로 인증 시험이 진행되고 있으며, 주기는 미국 2년, 일본 1년, 인증기간은 미국 10년, 일본 5년이었다. 설문조사에서는 '대한의학유전학회에서 위원회를 구성하여 교육기관 인정과 전문 유전상담사 인증을 담당하며, 관련학회의 의견수렴과 자문을 얻는다'에 대다수가 찬성하였다. 지원자의 전공은 제한할 필요가 없으며, 인증시험은 필기와 실기로 이루어져야하고 주기는 2년, 인증기간은 5년이 적당하다는 응답이 가장 많았다. 결 론: 유전상담 교육기관 및 유전상담사 인증 제도는 대한 의학유전학회에서 주관하며, 미국과 일본의 프로그램을 참고하여 국내실정에 맞게 도입한다. 대한의학유전학회에서는 위원회를 구성하여 관련 학회 등의 의견수렴과 자문을 얻어 교육프로그램 개발과 인증 제도를 구체화 할 것을 촉구하는 동시에 정부에서도 유전상담의 급여화와 필요한 제도적인 지원이 있어야만 국내의 유전의료의 발전에 필요한 인프라 구축의 내실을 다질 수 있게 될 것이다.

• 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.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.100-104
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• 2011

유전자 검사는 생명과학의 발달과 더불어 질병 진단 및 연구의 중요한 수단으로 일반화되고있으나, 태아에 대한 유전자 검사는 자기결정권이 없는 태아를 대상으로 하기 때문에 또 다른 윤리적, 사회적 문제가 있을 수 있으므로 특별한 주의를 기울여야 한다. 따라서 태아 유전자 검사를 시행하기 전에 유전 상담이 충분히 이루어져서 부모에게 병의 진단, 자연경과, 가능한 치료를 이해시키며, 질환의 유전방식과 가족의 재발 위험도를 평가하고 그에 따른 가능한 선택을 제시하여 가족들이 질환에 대해 최선의 결정을 할 수 있게 도움을 주어야 한다. 뿐만 아니라 태아 유전자 검사에 대한 현행법의 합리적인 법률 개정도 뒷받침되어야 한다.

• 한국간호교육학회지
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• 제19권4호
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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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• 제10권2호
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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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• 대한불임학회 2005년도 제49차 추계학술대회
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• pp.36-48
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• 2005

• 대한생식의학회:학술대회논문집
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• 대한불임학회 2001년도 제41차 추계학술대회
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• pp.45-56
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• 2001

• 대한간호학회지
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• 제33권8호
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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.

• 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.

• 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.