Great Ormond Street Hospital, London, UK, Queen Mary University of London, UK and Genomics England, London, UK
Great Ormond Street Hospital, London, UK and Genomics England, London, UK.
Clin Med (Lond). 2017 Dec;17(6):545-551. doi: 10.7861/clinmedicine.17-6-545.
Virtually all medical specialties are impacted by genetic disease. Enhanced understanding of the role of genetics in human disease, coupled with rapid advancement in sequencing technology, is transforming the speed of diagnosis for patients and providing increasing opportunities to tailor management. As set out in the and the recent NHS England board paper , the increasing 'mainstreaming' of genetic testing into routine practice and plans to embed whole genome sequencing in the NHS mean that the profile and importance of genomics is on the rise for many clinicians. This article provides a brief overview of genomics and its current clinical applications, including its contribution to personalised medicine. Physicians will be signposted to key issues that will allow the successful implementation of genomics for rare disease diagnosis and cancer management.
实际上，所有医学专业都受到遗传疾病的影响。对遗传学在人类疾病中的作用的认识不断加深，加上测序技术的快速进步，正在改变患者的诊断速度，并为个性化治疗提供越来越多的机会。正如 和最近的英国国家医疗服务体系英格兰董事会文件 所指出的，遗传检测越来越“主流化”到常规实践中，以及将全基因组测序纳入国民保健制度的计划意味着，基因组学对许多临床医生来说越来越重要。本文简要概述了基因组学及其当前的临床应用，包括其对个性化医学的贡献。本文将为医生指明关键问题，以帮助他们成功实施基因组学，用于罕见病诊断和癌症管理。
