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转型中的临床遗传学——爱沙尼亚、芬兰和荷兰的遗传服务比较

Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands.

作者信息

Vrijenhoek T, Tonisson N, Kääriäinen H, Leitsalu L, Rigter T

机构信息

Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

出版信息

J Community Genet. 2021 Apr;12(2):277-290. doi: 10.1007/s12687-021-00514-7. Epub 2021 Mar 11.

Abstract

Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today's clinical geneticists in providing healthcare. With the many novel technologies that have expanded the genetic toolkit, genetics is increasingly evolving beyond rare disease diagnostics. When placed in a transition context-like we do here-clinical genetics is likely to become a fully integral part of future healthcare and clinical genetic expertise will be required increasingly outside traditional clinical genetic settings. We explore transition effects on the thinking (culture), organizing (structure), and performing (practice) in clinical genetics, taking genetic healthcare in Estonia, Finland, and the Netherlands as examples. Despite clearly distinct healthcare histories, all three countries have initially implemented genetic healthcare in a rather similar fashion: as a diagnostic tool for predominantly rare congenital diseases, with clinical geneticists as the main providers. Dynamics at different levels, such as emerging technologies, biobanks and data infrastructure, and legislative frameworks, may require development of a new system attuned with the demands and (historic) context of specific countries. Here, we provide an overview of genetic service provisions in Estonia, Finland, and the Netherlands to consider the impact of historic and recent events on prospective developments in genetic healthcare.

摘要

传统上,遗传学能够对患有罕见遗传疾病的患者进行可靠诊断,从而使当今临床遗传学家在提供医疗保健方面发挥关键作用。随着众多新技术扩展了基因检测手段,遗传学正日益超越罕见病诊断范畴。当置于类似我们这里所探讨的转型背景下,临床遗传学很可能会成为未来医疗保健的一个完整组成部分,并且在传统临床遗传学环境之外,对临床遗传专业知识的需求也会越来越大。我们以爱沙尼亚、芬兰和荷兰的遗传医疗保健为例,探讨转型对临床遗传学的思维(文化)、组织(结构)和实践(操作)的影响。尽管这三个国家有着明显不同的医疗保健历史,但它们最初实施遗传医疗保健的方式颇为相似:将其作为主要针对罕见先天性疾病的诊断工具,临床遗传学家是主要提供者。不同层面的动态因素,如新兴技术、生物样本库和数据基础设施以及立法框架等,可能需要开发一个与特定国家的需求和(历史)背景相适应的新体系。在此,我们概述了爱沙尼亚、芬兰和荷兰的遗传服务提供情况,以考量历史和近期事件对遗传医疗保健未来发展的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac8c/8141075/421c0eefb246/12687_2021_514_Fig1_HTML.jpg

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