East London Foundation Trust, Tower Hamlets Community Learning Disability Service, Mile End Hospital, London, United Kingdom.
Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):566-575. doi: 10.1002/ajmg.b.32732. Epub 2019 May 11.
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.
遗传研究的最新进展使得人们更加关注智力障碍（ID）的遗传原因，并提出了新的问题，即临床医生应如何以及何时提供基因检测，以及与患者和照顾者就这一决定进行沟通的性质。由于沟通、同意、能力的复杂性以及对这一人群中基因检测的伦理问题，确定这种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力障碍患者相关的遗传研究的最新进展，重点介绍了在这一人群中进行基因检测时可能出现的挑战。然后，我们描述了如何使用质量改进方法为东伦敦的临床环境中智力障碍的成年患者制定常规基因检测的临床路径。
