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遗传服务。

Genetic services.

作者信息

Donnai D

机构信息

University of Manchester and Regional Genetic Service, Manchester, UK.

出版信息

Clin Genet. 2002 Jan;61(1):1-6. doi: 10.1034/j.1399-0004.2002.610101.x.

Abstract

This is a time of unprecedented increase in knowledge about the genetic basis of disease against a background of rapidly changing technology. Advances happen quickly, with the new knowledge rapidly becoming relevant to services for patients, and hence there is an increasing demand for, and expectation of, genetic services. This brings a challenge for health services worldwide to keep pace with the expectations of their populations. There is also a need for public and professional education and dialogue to dispel some of the hype and myths about what can be achieved. It should not be forgotten that any services must be provided and developed within a broad ethical framework. A statement from a WHO expert consultation (1) concluded that 'Genetic advances will only be acceptable if their application is carried out ethically, with due regard to autonomy, justice, education and the beliefs and resources of each nation and community'. That so many public bodies have commented on genetic services and their associated ethical, legal and social issues emphasizes not only the importance of this area in health care, but also that the wider issues are of great importance in democratic societies. The aim of this paper is to review the current situation in the provision of genetic services, to examine the drivers for change, to speculate on the likely need for future services and to suggest models for the development of such services. Pharmacogenetics and the determination of genetic factors indicating susceptibility to infection will not be discussed since these have been the subject of several recent excellent reviews (2, 3). Genetic services have been defined as health measures implemented to help people with a genetic disadvantage and their families to live and reproduce as normally as possible (4). Broadly they can be divided into those services which target whole populations with a view to identifying those at increased risk; and those which focus on the needs of families which are affected by a genetic disorder or who perceive themselves to be at increased risk.

摘要

在技术迅速变革的背景下,人们对疾病遗传基础的认识正以前所未有的速度增长。进展日新月异,新知识迅速与患者服务相关联,因此对基因服务的需求和期望也在不断增加。这给全球卫生服务带来了挑战,要跟上民众的期望。还需要开展公众和专业教育及对话,以消除一些关于所能取得成果的炒作和误解。不应忘记,任何服务都必须在广泛的伦理框架内提供和发展。世界卫生组织一次专家磋商的一份声明(1)总结道:“只有在道德规范下应用基因进展,充分考虑到自主权、正义、教育以及每个国家和社区的信仰与资源,这些进展才会被接受。”如此众多的公共机构对基因服务及其相关的伦理、法律和社会问题发表评论,不仅强调了这一领域在医疗保健中的重要性,也表明更广泛的问题在民主社会中至关重要。本文旨在回顾基因服务提供的现状,审视变革的驱动因素,推测未来服务可能的需求,并提出此类服务发展的模式。药物遗传学以及确定表明感染易感性的遗传因素将不在本文讨论,因为这些内容近期已有多篇出色的综述(2, 3)。基因服务被定义为实施的卫生措施,旨在帮助有遗传劣势的人群及其家庭尽可能正常地生活和生育(4)。大致而言,它们可分为两类服务:一类针对全体人群,旨在识别风险增加的人群;另一类则关注受遗传疾病影响或自认为风险增加的家庭的需求。

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