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Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2019-05-11 , DOI: 10.1002/ajmg.b.32732
Katherine Adlington 1 , James Smith 1 , Jason Crabtree 1 , Soe Win 1 , Jade Rennie 1 , Kuresh Khodatars 1 , Elisabeth Rosser 2 , Ian Hall 1
Affiliation  

Recent advances in genetic research have led to an increased focus on genetic causes of intellectual disability (ID) and have raised new questions about how and when clinicians offer genetic testing and the nature of communication around this decision with patients and carers. Determining the right approach to such discussions is complicated by complexities of communication, consent, and capacity and ethical concerns about genetic testing in this population. In this article, we briefly discuss the recent advances in genetic research relevant to people with intellectual disability, highlighting the challenges that might arise when undertaking genetic testing in this population. We then describe how we have used a Quality Improvement methodology to develop a clinical pathway for routine genetic testing for adults with intellectual disability in a clinical setting in East London.

中文翻译:

改善智力障碍成年人的基因检测途径:文献综述和东伦敦质量改进项目的经验教训。

基因研究的最新进展已导致人们更加关注智力障碍(ID)的遗传原因,并提出了新的问题,即临床医生如何以及何时提供基因检测,以及围绕这一决定与患者和护理人员进行交流的性质。由于这种人群的基因测试的沟通,同意,能力和道德问题的复杂性,确定进行此类讨论的正确方法变得很复杂。在本文中,我们简要讨论了与智障人士相关的基因研究的最新进展,强调了在该人群中进行基因检测时可能出现的挑战。
更新日期:2019-11-01
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