Genetic testing in clinical pediatric practice

유한욱 대한소아청소년과학회 2010 Clinical and Experimental Pediatrics (CEP) Vol.53 No.3

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes pre- and postnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene’s structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

Genetic testing in clinical pediatric practice

Yoo, Han Wook The Korean Pediatric Society 2010 Clinical and Experimental Pediatrics (CEP) Vol.53 No.3

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

Perception on genetic testing in Korean medicine doctors: A mobile-based survey

Sunju Park,Seong-Cheon Woo,Hyo-Jeong Ban,Siwoo Lee,김송이,진희정 한국한의학연구원 2021 Integrative Medicine Research Vol.10 No.2

Background: Currently, genetic testing is widely used to understand individual characteristics. In Korea, genetic testing has been in use, but not actively in Korean Medicine (KM). To examine the perceptions of genetic testing, we performed online survey to Korean Medicine doctors (KMDs). Methods: The survey was a mobile-based study that was developed by 6 survey specialists based on electronic database search results. The questionnaire consisted of 6 categories: general characteristics of respondents, understanding of genetic testing, demand for using genetic testing, application field and utilization level of genetic testing, limitations of genetic testing, and plans and necessary efforts to begin using genetic testing based on an 11-point Likert scale. Results: With the response rate of 27.2% (n = 544), 46.9% of respondents answered that they understood the definition and mechanism of genetic testing. About 80% of KMDs responded that they would be willing to use genetic testing results; a notable reason for this was the need for more objective and evidence-based test results. KMDs recognized that genetic testing could not only provide personalized treatment and care, but also help communicate with patients. Conclusions: This study observed KMDs’ perceptions of the potential clinical benefits of genetic testing. We confirmed that development of genetic testing technology, knowledge of their use, and new technology-friendly policies are essential for expanding the genetic testing technology in Korean medicine.

유전자검사의 법적 문제

정규원 ( Kyu Won Jung ) 법과사회이론학회 2003 법과 사회 Vol.24 No.-

기술발전에 대응한 DTC 유전자검사 법제의 개선방향

박대웅(Park, Dae Woong),류화신(Ryoo, Hwa Shin) 충북대학교 법학연구소 2019 과학기술과 법 Vol.10 No.2

Lower costs of genetic testing, social interest and high added value for genes, and increased awareness of right to informational self-determination are driving DTC genetic testing. However, the problems inherent in the genetic test, such as difficulty in interpretation and risk of leakage of results, and the additional problems of the DTC genetic testing such as expanding the items to be tested, the securing of procedural safety, and the protection of personal information in commercial use need to be considered. Korea permits DTC genetic testing centered on wellness and is attempting to expand testing items to certification pilot projects and regulatory sandboxes. Global bans don t match the trends of the times, and countries that allow them entirely recognize the need for some level of regulation. In this situation, we need to pay attention to the case of the US, which is gradually expanding the items of the DTC genetic testing based on scientific evidence. Based on these discussions, this paper derives a direction to improve the legislation on DTC genetic testing. Efforts should be made to escalate the test items on a scientific basis, to supplement the genetic counseling process, and to minimize regulatory differences between countries. In order to guarantee the right to informational self-determination, individuals should be given the right to manage their own genetic information. The state needs to focus on establishing a system for the protection of sensitive personal information, the genetic information, and for the correct interpretation of test results. When the legislation is complete and the general citizens awareness of genetic testing improves, DTC genetic testing can be used universally as a means of healthy living.

간호대학생의 유전지식과 유전자검사에 대한 태도 및 의도

현수진,전상은 한국자료분석학회 2017 Journal of the Korean Data Analysis Society Vol.19 No.3

본 연구는 간호대학생의 유전지식과 유전자검사에 대한 태도 및 의도를 파악하기 위한 서술적 조사연구로, D시 소재 3개 대학교에 재학중인 간호대학생 530명을 편의표집하여 시행하였다. 자료수집은 2016년 11월 25일부터 12월 10일까지 이루어졌고, 자료분석은 SPSS/Win 22.0 프로그램을 이용하여 실수, 백분율, 평균, 표준편차, chi-square test, t-test, ANOVA를 이용하였다. 연구결과 대상자들의 유전지식의 평균점수는 15.95±1.51이었고, 유전자검사에 대한 긍정적 태도는 평균 26.19±3.42점이었으며, 부정적 태도는 평균 21.26±4.88이었다. 유전자검사에 대한 의도가 있는 학생은 332명(64.6%)이었으며, 유전자검사에 대한 의도가 있는 학생들은 의도가 없는 학생들에 비해 유전지식의 평균이 16.11±1.40으로 더 높게 나타났으며(F=12.90, p<0.001), 유전자검사에 대해 더 긍정적인 태도를 가진 것으로 나타났다(F=0.91, p=0.006). 따라서 유전자검사의 적용에 있어서 개개인이 유전자검사에 대한 긍정적인 태도와 정확한 지식을 가질 수 있도록 돕고, 개인의 특성과 태도를 고려한 개별화된 상담프로그램의 개발이 필요할 것이라 생각된다. The purpose of this study was to identify the levels of genetic knowledge, and attitudes and intentions towards genetic testing of nursing students. Total 530 nursing students were recruited from three universities in D city. Data were analyzed using frequencies, means, t-test and ANOVA with SPSS 22.0. The participants' genetic knowledge was 15.95±1.51, the positive attitudes toward genetic testing was 26.19±3.42, the negative attitudes toward genetic testing was 21.26±4.88. There were significant differences in genetic knowledge (p<0.001) and attitude toward genetic testing according to their intention to genetic testing (p=0.006, p=0.001). The participants with the intention of genetic testing showed higher levels of genetic knowledge (t=3.452, p<0.001) and more positive attitude toward genetic testing (t=6.596, p=0.006) than those without the intention. Therefore, it is necessary to develop an individualized counseling program considering persons‘ characteristics and backgrounds to promote an accurate knowledge and a positive attitude of genetic testing in the application of genetic testing.

유전자감식의 제문제 ; 유전자감식의 법적 문제

정규원 ( Kyu Won Jung ) 한국형사정책학회 2006 刑事政策 Vol.18 No.2

Genetic testing is used many purposes. After mid-1980s, genetic testing is also used in the field of forensic science and it also applied to investigate the criminal cases. In Korea, we also have discussed the use of genetic testing in criminal investigation after early 1990s. After about 15-years hot debates, <Draft of Collection and Control of Genetic Database for Criminal Procedure> was born this year. Genetic testing is powerful in excluding suspects from an investigation and acquitting the innocent. DNA profile database is the institute which is constitutes by the results of the individual genetic testings. DNA profile database is composed of Felon Index, Forensic Index, Population Index. Protection of citizen`s privacy is more seriously considered when the institute makes the Population Index. We should consider some points when we discuss the DNA profile database. Firstly, the act of sampling of genetic materials may cause bodily harm and generally constitutes an invasion of privacy. Secondly, we should determine in which kinds of crimes the DNA profile database may be allowed. Thirdly, we also should determine in which stage of the criminal process the genetic material for test and storage may allowed. Fourthly, we always remind that the meaning of the genetic testing in the criminal procedure is limited. Fifthly, the genetic testing and maintenance of the DNA profile database for the criminal procedure should be qualified and regulated by authoritative body whish has the professional knowledge and experiences at that field. Sixthly, the guideline for the DNA profile database should be made for the quality control and the protection of the subjects. Most of all, in genetic testing for the criminal procedure the abuse of the genetic information may not happen because the information which is obtained by that test is very limited. But if the samples are stored and other types of genetic test are performed by using these samples, we may get much information about the subjects. So we should have some means for protection of the collected samples. These has been long and hot discussion in Korea whether the DNA profile database should be allowed or not. But we are on the new stage by the rapid development of the science and technology. We should determine in which kinds of crime the DNA profile database may allowed and how to perform the testing and how to protect the privacy and other harms.

유전상담의 제도적인 고찰

김현주(Hyon J. Kim) 대한의학유전학회 2007 대한의학유전학회지 Vol.4 No.1

Unprecedented amount of genetic information being generated from the result of Human Genome Project (HGP) and advances in genetic research is already forcing changes in the paradigm of health and disease. The ultimate goal of genetic medicine is to use genetic information and technology to develop new ways of treatment or even prevention of the disease on an individual level for 'personalized medicine'. Genetics is playing an increasingly important role in the diagnosis, monitoring and management of common multifactorial diseases in addition to rare single-gene disorders. While wide range of genetic testing have provided benefits to patients and family, uncertainties surrounding test interpretation, the current lack of available medical options for the diseases, and risks for discrimination and social stigmatization may remain to be resolved. However an increasing number of genetic tests are becoming commercially available, including direct to consumer genetic testing, yet public is often unaware of their clinical and social implications. The personal nature of information generated by a genetic test, its power to affect major life decisions and family members, and its potential misuse raise important ethical considerations. Therefore appropriate genetic counseling is needed for patient to be informed with the benefits, limitations and risks of genetic tests, prior to informed consent for the tests. Physician also should be familiar with the legal and ethical issues involved in genetic testing to tell patients how well a particular genetic risk factor relates with likelihood of disease, and be able to provide appropriate genetic counseling. Genetic counseling become a mandatory requirement as global standard for many genetic testing such as prenatal diagnosis, presymtomatic DNA diagnostic tests and cancer susceptibility gene test for familial cancer syndrome. In oder to meet the challenge of genetic medicine of 21 century in korean health care system, professional education program and certification board for medical genetics specialist including non-MD genetic counselors should be addressed by medical society and regulatory policy of national health insurance reimbursement for genetic counseling to be in place to promote the implementation of clinical genetic service including genetic counseling for proper genetic testing.

기술발전에 대응한 DTC 유전자검사 법제의 개선방향

박대웅, 류화신 충북대학교 법학전문대학원 법학연구소 2008 과학기술과 법 Vol.10 No.2

Lower costs of genetic testing, social interest and high added value for genes, and increased awareness of right to informational self-determination are driving DTC genetic testing. However, the problems inherent in the genetic test, such as difficulty in interpretation and risk of leakage of results, and the additional problems of the DTC genetic testing such as expanding the items to be tested, the securing of procedural safety, and the protection of personal information in commercial use need to be considered. Korea permits DTC genetic testing centered on wellness and is attempting to expand testing items to certification pilot projects and regulatory sandboxes. Global bans don't match the trends of the times, and countries that allow them entirely recognize the need for some level of regulation. In this situation, we need to pay attention to the case of the US, which is gradually expanding the items of the DTC genetic testing based on scientific evidence. Based on these discussions, this paper derives a direction to improve the legislation on DTC genetic testing. Efforts should be made to escalate the test items on a scientific basis, to supplement the genetic counseling process, and to minimize regulatory differences between countries. In order to guarantee the right to informational self-determination, individuals should be given the right to manage their own genetic information. The state needs to focus on establishing a system for the protection of sensitive personal information, the genetic information, and for the correct interpretation of test results. When the legislation is complete and the general citizens' awareness of genetic testing improves, DTC genetic testing can be used universally as a means of healthy living.

Genetic Testing for Prostate Cancer, Urothelial Cancer, and Kidney Cancer

한현호,강민용,변석수,윤석중 대한비뇨기종양학회 2023 대한비뇨기종양학회지 Vol.21 No.2

As genetic testing plays an increasingly salient role in the realm of cancer diagnosis, prognostication, and treatment, this review aims to elucidate the current landscape and future directions of genetic testing in genitourinary cancers, with a focus on prostate cancer, urothelial carcinoma, and renal cell carcinoma. With the increasing adoption of next-generation sequencing technology, the utilization and access to genetic testing in real-world settings have become critical for practicing urologists and genitourinary oncologists, especially after the approval of poly(ADP-ribose) polymerase inhibitors for prostate cancer and the utilization of immune checkpoint inhibitors. In this rapidly evolving field, this review underscores the clinical value of interpreting genetic variations and the importance of distinguishing between germline and somatic mutations, for whom testing can be prescribed, and which genes should be tested. While the current modus operandi predominantly relies on exome sequencing, we posit that the future of genetic testing in genitourinary cancers will see an expansion to encompass whole-genome sequencing, accounting for structural and regulatory variations that impact gene expression. In the upcoming era of liquid biopsies, we envisage an increase in noninvasive cancer genetic testing for the purposes of diagnosis, prognosis, treatment response, and progression monitoring, supplementing the gold-standard tissue biopsies that provide histologic information. Ultimately, thoroughly interpreting genetic testing results and the subsequent treatment implications necessitates a multidisciplinary approach. This review strives to offer urologists a comprehensive perspective on genetic testing in these prevalent urological cancers, contributing to improved diagnosis, prognosis, and treatment decision-making.