Community genetics最新文献

Objectives: 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.

Methods: Data were collected by assessment of published syllabi and curricula and through contact with educational leads at responsible organisations.

Results: 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.

Conclusions: 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.

Objectives: The purpose of the present article was to evaluate how shamans and the suburban communities of Quito interpret the terminology used in genetics.

Methods: One hundred people living in 5 suburban districts of Quito were surveyed as well as 19 shamans of the Salasaca community.

Results: 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.

Conclusion: 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.

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.

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.

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.

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.

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.

Background: 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).

Objectives: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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.

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.