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从公共卫生角度看基因服务实施的障碍与促进因素

Barriers and Facilitating Factors for Implementation of Genetic Services: A Public Health Perspective.

作者信息

Cornel Martina C, van El Carla G

机构信息

Department of Clinical Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, Amsterdam, Netherlands.

出版信息

Front Public Health. 2017 Aug 4;5:195. doi: 10.3389/fpubh.2017.00195. eCollection 2017.

Abstract

More than 15 years after the publication of the sequence of the human genome, the resulting changes in health care have been modest. At the same time, some promising examples in genetic services become visible, which contribute to the prevention of chronic disease such as cancer. These are discussed to identify barriers and facilitating factors for the implementation of genetic services. Examples from oncogenetics illustrate a high risk of serious disease where prevention is possible, especially in relatives. Some 5% of breast cancers and colorectal cancers are attributable to an inherited predisposition. These cancers occur at a relatively young age. DNA testing of relatives of affected patients may facilitate primary and secondary prevention. Training of non-genetic health care workers and health technology assessment are needed, as is translational research in terms of bringing genomics to health care practice while monitoring and evaluating. Stratified screening programs could include cascade screening and risk assessment based on family history. New roles and responsibilities will emerge. A clear assessment of the values implied is needed allowing to balance the pros and cons of interventions to further the responsible innovation of genetic services.

摘要

人类基因组序列公布15年多后,医疗保健方面由此产生的变化并不大。与此同时,遗传服务领域出现了一些有前景的实例,这些实例有助于预防癌症等慢性病。本文对这些实例进行讨论,以确定遗传服务实施过程中的障碍和促进因素。肿瘤遗传学的实例表明,在某些情况下,尤其是在亲属中,严重疾病的患病风险很高,但预防是可行的。约5%的乳腺癌和结直肠癌可归因于遗传易感性。这些癌症发病年龄相对较小。对受影响患者的亲属进行DNA检测可能有助于一级和二级预防。需要对非遗传医疗保健工作者进行培训并开展卫生技术评估,同时还需要开展转化研究,以便在监测和评估的同时将基因组学应用于医疗保健实践。分层筛查项目可包括基于家族病史的级联筛查和风险评估。新的角色和职责将会出现。需要对其中隐含的价值进行明确评估,以便权衡干预措施的利弊,从而推动遗传服务的负责任创新。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e975/5543075/aae9088d7674/fpubh-05-00195-g001.jpg

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