Community genetics最新文献

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Genetics teaching for non-geneticist health care professionals in the UK. 英国非遗传学家卫生保健专业人员的遗传学教学。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000094474
Kirsty Challen, Hilary Harris, Caroline M Benjamin, Rodney Harris
{"title":"Genetics teaching for non-geneticist health care professionals in the UK.","authors":"Kirsty Challen,&nbsp;Hilary Harris,&nbsp;Caroline M Benjamin,&nbsp;Rodney Harris","doi":"10.1159/000094474","DOIUrl":"https://doi.org/10.1159/000094474","url":null,"abstract":"<p><strong>Objectives: </strong>It was the aim of this study to describe the structure and content of training in genetics for non-genetics specialist health care professionals in the UK.</p><p><strong>Methods: </strong>Data were collected by assessment of published syllabi and curricula and through contact with educational leads at responsible organisations.</p><p><strong>Results: </strong>Twenty-six universities, 7 Royal Colleges and various intercollegiate boards and committees are involved in the provision of medical education at various levels, in addition to institutions offering nursing and/or midwifery training. Genetics is taught in variable formats, quantities and contents, and although some institutions are moving to adopt minimum competencies in genetics, this is by no means widespread.</p><p><strong>Conclusions: </strong>Given the wide number of stakeholders in the field, consensus competencies seem most likely to advance practice, and thus, phase II of the GenEd project will survey professionals to ascertain their priorities for genetic education.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 4","pages":"251-9"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000094474","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26276399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Genetics and congenital malformations: interpretations, attitudes and practices in suburban communities and the shamans of ecuador. 遗传学和先天性畸形:解释,态度和做法在郊区社区和厄瓜多尔的萨满。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000094476
César Paz-Y-Miño, María Eugenia Sánchez, Isabel Sarmiento, Paola E Leone
{"title":"Genetics and congenital malformations: interpretations, attitudes and practices in suburban communities and the shamans of ecuador.","authors":"César Paz-Y-Miño,&nbsp;María Eugenia Sánchez,&nbsp;Isabel Sarmiento,&nbsp;Paola E Leone","doi":"10.1159/000094476","DOIUrl":"https://doi.org/10.1159/000094476","url":null,"abstract":"<p><strong>Objectives: </strong>The purpose of the present article was to evaluate how shamans and the suburban communities of Quito interpret the terminology used in genetics.</p><p><strong>Methods: </strong>One hundred people living in 5 suburban districts of Quito were surveyed as well as 19 shamans of the Salasaca community.</p><p><strong>Results: </strong>The results show that members of both groups are little informed about genetics. As knowledge about genetics is correlated to educational level, which is very poor in both groups, knowledge and understanding of genetics are either very basic or nonexistent. As for the medical practices in treating genetic alterations, the surveys show that while in very severe cases scientific medicine is sought, in most cases explanations and a cure are given by shamanic medicine.</p><p><strong>Conclusion: </strong>There is limited knowledge of genetics and its terminology in the study population. Shamanic and marginal health practices seem to remain prevalent in these communities due to their low costs, the personal attention the individuals receive, and the holistic point of view employed. It is important that the community councils, the medical doctors and the shamans work together to set up community programs on medical education, particularly on genetics.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 4","pages":"268-73"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000094476","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26276849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Social, political, and epistemological aspects of genetics and genomics. 遗传学和基因组学的社会、政治和认识论方面。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000092649
Margaret Lock, Susan Cox, Lori d'Agincourt-Canning
{"title":"Social, political, and epistemological aspects of genetics and genomics.","authors":"Margaret Lock,&nbsp;Susan Cox,&nbsp;Lori d'Agincourt-Canning","doi":"10.1159/000092649","DOIUrl":"https://doi.org/10.1159/000092649","url":null,"abstract":"<p><p>The papers in this special issue were first given at a conference in Toronto, Canada, in April 2004 entitled 'Genomics, Genetics, and Society: Bridging the Disciplinary Divides'. The papers fall into four intersecting themes. (1) The introduction of genetic and genomic technologies into communities. (2) Governance, the morals of scientific discourse and policy making. (3) What is a gene? (4) Public knowledge, public trust and improved dialogue between the public and scientists.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 3","pages":"137-41"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000092649","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26059195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Reflections on the disciplinary gulf between the natural and social sciences. 关于自然科学与社会科学学科鸿沟的思考。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000092652
Susan Wright
{"title":"Reflections on the disciplinary gulf between the natural and social sciences.","authors":"Susan Wright","doi":"10.1159/000092652","DOIUrl":"https://doi.org/10.1159/000092652","url":null,"abstract":"<p><p>The general purpose of this essay is to explore key features of the disciplinary gulf between the natural and social sciences, and, in particular, differences in fundamental assumptions concerning the nature and purpose of knowledge. The essay contrasts the claims of the natural sciences to objectivity and universality with those of the social sciences, especially the qualitative social sciences, to the historical and cultural contingency of knowledge. It examines the ways in which the use of two 'key words' - 'expertise' and 'responsibility'--serves to maintain the disciplinary gulf by reinforcing assumptions concerning the neutrality and technical nature of scientific knowledge and how those concepts marginalize social and ethical dimensions to create a politically influential hierarchy of knowledge claims.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 3","pages":"161-9"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000092652","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26059198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Pharmacogenetics, adverse drug reactions and public health. 药物遗传学,药物不良反应和公共卫生。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000090693
Regine Kollek, Jan van Aken, Gunter Feuerstein, Mechtild Schmedders
{"title":"Pharmacogenetics, adverse drug reactions and public health.","authors":"Regine Kollek,&nbsp;Jan van Aken,&nbsp;Gunter Feuerstein,&nbsp;Mechtild Schmedders","doi":"10.1159/000090693","DOIUrl":"https://doi.org/10.1159/000090693","url":null,"abstract":"<p><p>Adverse drug reactions (ADRs) are a major public health problem. Pharmacogenetic testing prior to drug treatment is supposed to considerably alleviate this problem. The state of pharmacogenetic development was assessed by a systematic literature review, supplemented by expert interviews. Analysis of three case examples revealed that - with the exception of thiopurine methyltransferase (TPMT) - studies are lacking which unambiguously prove the clinical value of pharmacogenetic testing. Testing can prevent some, but by far not all ADRs. Since it does not compensate for clinical monitoring, pharmacogenetics can be regarded as add-on technology, applied in addition to established methods. A non-representative, explorative survey conducted amongst members of the German Society of Laboratory Medicine revealed that the demand for testing is limited and has not increased much, although a certain increase is expected in the future.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 1","pages":"50-4"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000090693","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25867242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 22
Genetic counseling for the public? 为公众提供遗传咨询?
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000090695
Erdmute Kunstmann, Jorg T Epplen
{"title":"Genetic counseling for the public?","authors":"Erdmute Kunstmann,&nbsp;Jorg T Epplen","doi":"10.1159/000090695","DOIUrl":"https://doi.org/10.1159/000090695","url":null,"abstract":"<p><p>The widespread availability of diagnostic tools for numerous inherited diseases requires diligent decision-making regarding the risks and benefits, not only for the individual but also at the population level. Should therefore genetic counseling be offered to the entire population at risk for genetic diseases? In our opinion, the goals of public health may only be reached by serving primarily the individual at risk and his/her family. Efforts in public health genetics should be focused on appropriate genetic counseling, especially regarding common diseases with complex genetic components in the near future.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 1","pages":"62-6"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000090695","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25867244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Getting ready for the future: integration of genomics into public health research, policy and practice in Europe and globally. 为未来做好准备:将基因组学整合到欧洲和全球的公共卫生研究、政策和实践中。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000090696
Angela Brand, Peter Schroder, Helmut Brand, Ron Zimmern
{"title":"Getting ready for the future: integration of genomics into public health research, policy and practice in Europe and globally.","authors":"Angela Brand,&nbsp;Peter Schroder,&nbsp;Helmut Brand,&nbsp;Ron Zimmern","doi":"10.1159/000090696","DOIUrl":"https://doi.org/10.1159/000090696","url":null,"abstract":"<p><p>The integration of genomics into public health research, policy and practice will be one of the most important future challenges that our health care systems will face. The next decade will provide a window of opportunity to establish infrastructures that will enable the scientific advances to be translated into evidence-based policies and interventions that improve population health. Approaches for national, European and international institutionalization of public health genomics are shown that aim to champion these challenges.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 1","pages":"67-71"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000090696","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25867245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 19
Understanding the information needs of general practitioners managing a rare genetic disorder (osteogenesis imperfecta). 了解全科医生处理罕见遗传疾病(成骨不全症)的信息需求。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000094475
Philip Zack, Catherine Devile, Christine Clark, Robert Surtees
{"title":"Understanding the information needs of general practitioners managing a rare genetic disorder (osteogenesis imperfecta).","authors":"Philip Zack,&nbsp;Catherine Devile,&nbsp;Christine Clark,&nbsp;Robert Surtees","doi":"10.1159/000094475","DOIUrl":"https://doi.org/10.1159/000094475","url":null,"abstract":"<p><strong>Background: </strong>Lack of adequate knowledge is a common problem in medicine, but is a particular problem in a rapidly advancing field like genetics. This study uses the example of a rare genetic disorder (osteogenesis imperfecta) to understand the information needs of primary care physicians (GPs).</p><p><strong>Objectives: </strong>To determine whether a knowledge gap is recognised, how GPs currently attempt to overcome it, and what features of an information resource are preferred by GPs.</p><p><strong>Methods: </strong>GPs of children affected by osteogenesis imperfecta in and around Greater London were interviewed, using both questionnaire-based semi-structured interview and a qualitatively analysed open-ended discussion. Consultations in both primary and tertiary care settings over a 5-year period were compared.</p><p><strong>Results: </strong>Problems due to osteogenesis imperfecta were presented to GPs in about one third of consultations with these patients. GPs reported finding such patients difficult to manage due to lack of knowledge. Knowledge from tertiary sources, which was authoritative, accessible and relevant, was preferred, particularly when reasoning was explained. Primary literature and clinical guidelines were not favoured.</p><p><strong>Conclusions: </strong>Empirical evidence supports and elaborates theoretical models for provision of clinically useful information. A model for improved information services using authoritative web-based information linked to electronic patient records is suggested.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 4","pages":"260-7"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000094475","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26276848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 16
Education in medical genetics for physicians: Germany. 医生医学遗传学教育:德国。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000094471
Jorg Schmidtke, Yasmin Paul, Irmgard Nippert
{"title":"Education in medical genetics for physicians: Germany.","authors":"Jorg Schmidtke,&nbsp;Yasmin Paul,&nbsp;Irmgard Nippert","doi":"10.1159/000094471","DOIUrl":"https://doi.org/10.1159/000094471","url":null,"abstract":"<p><p>We have assessed the relative amount of genetics education at each of the 3 levels of medical training in Germany, namely the undergraduate, postgraduate and continuous medical education stages. Our data show that genetics is ill represented at all levels. Written examinations at the end of the relevant section at the undergraduate level include very few questions related to medical genetics, and particularly few in subjects such as pathology, internal medicine and gynaecology and obstetrics. At the postgraduate level, only 4 specialties require knowledge in medical genetics that may be subject to examination. At the continuous medical education level, medical genetics plays a very minor role. All 3 levels have been subject to reform in recent years, but effects that might ensue from these reforms cannot be expected before 2008.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 4","pages":"235-9"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000094471","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26333072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 11
Genomics and public health in the United States: signposts on the translation highway. 美国的基因组学和公共卫生:翻译高速公路上的路标。
Community genetics Pub Date : 2006-01-01 DOI: 10.1159/000090689
Marta Gwinn, Muin J Khoury
{"title":"Genomics and public health in the United States: signposts on the translation highway.","authors":"Marta Gwinn,&nbsp;Muin J Khoury","doi":"10.1159/000090689","DOIUrl":"https://doi.org/10.1159/000090689","url":null,"abstract":"<p><p>Successful completion of the Human Genome Project has raised public expectations that research findings will translate quickly into health benefits; however, the gap between biomedical research and clinical and public health application seems wider than ever. Public health scientists now have the opportunity to help create a broad concept of research translation that integrates genomic information into policies, programs and services benefiting the whole population. Important 'signposts' along the translation highway include conducting population-based research in genomics, developing evidence on the clinical and public health value of genomic information, and integrating genomics into health practice.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"9 1","pages":"21-6"},"PeriodicalIF":0.0,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000090689","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25867238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 26
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