Godard Béatrice, Kääriäinen Helena, Kristoffersson Ulf, Tranebjaerg Lisbeth, Coviello Domenico, Aymé Ségolène
INSERM SC11, Paris, France.
Eur J Hum Genet. 2003 Dec;11 Suppl 2:S13-48. doi: 10.1038/sj.ejhg.5201111.
This paper examines the professional and scientific views on the social, ethical and legal issues that impact on the provision of genetic services in Europe. Many aspects have been considered, such as the definition and the aims of genetic services, their organization, the quality assessment, public education, as well as the partnership with patients support groups and the multicultural aspects. The methods was primarily the analysis of professional guidelines, legal frameworks and other documents related to the organization of genetic services, mainly from Europe, but also from USA and international organizations. Then, the method was to examine the background data emerging from an updated report produced by the Concerted Action on Genetic Services in Europe, as well as the issues debated by 43 experts from 17 European countries invited to an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Helsinki, Finland, 8 and 9 September 2000. Some conclusions were identified from the ESHG workshop to arrive at outlines for optimal genetic services. Participants were concerned about equal accessibility and effectiveness of clinical genetic services, quality assessment of services, professional education, multidisciplinarity and division of tasks as well as networking. Within European countries, adherence to the organizational principles of prioritization, regionalization and integration into related health services would maximize equal accessibility and effectiveness of genetic actions. There is a need for harmonization of the rules involved in financial coverage of DNA tests in order to make these available to all Europeans. Clear guidelines for the best practice will ensure that the provision of genetic services develops in a way that is beneficial to its customers, be they health professionals or the public, especially since the coordination of clinical, laboratory and research perspectives within a single organizational structure permits a degree of coherence not often found in other specialties.
本文探讨了关于影响欧洲基因服务提供的社会、伦理和法律问题的专业及科学观点。其中考虑了诸多方面，如基因服务的定义与目标、其组织形式、质量评估、公众教育，以及与患者支持团体的合作关系和多元文化方面。主要方法是分析专业指南、法律框架以及其他与基因服务组织相关的文件，这些文件主要来自欧洲，但也包括美国和国际组织的。然后，该方法还包括研究欧洲基因服务协调行动产生的最新报告中出现的背景数据，以及2000年9月8日和9日在芬兰赫尔辛基由欧洲人类遗传学学会公共与专业政策委员会组织的国际研讨会上，17个欧洲国家的43位专家所讨论的问题。从欧洲人类遗传学学会的研讨会上得出了一些结论，以形成优化基因服务的概要。参与者关注临床基因服务的平等可及性和有效性、服务质量评估、专业教育、多学科性和任务分工以及网络建设。在欧洲国家内部，遵循优先排序、区域化以及融入相关健康服务的组织原则，将使基因行动的平等可及性和有效性最大化。有必要统一DNA检测费用覆盖方面的规则，以便让所有欧洲人都能获得这些检测。最佳实践的明确指南将确保基因服务的提供朝着有利于其客户的方向发展，无论客户是健康专业人员还是公众，特别是因为在单一组织结构内协调临床、实验室和研究视角能实现一定程度的连贯性，这在其他专业领域并不常见。
