Infrastructure for collaboration: Leeds MRC Medical Bioinformatics Centre

多年来，医学研究一直在以数字形式产生大量生物数据的新技术的推动下取得进展，例如，产生关节炎关节非常详细且通常是三维图像的新方法，或者带来遗传疾病信息的DNA测序新方法。直到最近，这些方法中的许多都局限于研究、临床试验和少数患者，但最近的进展意味着我们现在可以设想一个未来，每个人都可能知道自己的基因组序列，大多数人将在日常实践中进行医学调查，产生这种类型的数据。与此同时，英国国家医疗服务体系（NHS）正逐渐从使用纸张存储有关病人护理的重要信息转向采用现代计算机系统，以安全的电子格式存储病人的健康记录。这些病人的记录是有价值的数据，从中我们可以了解到很多关于医疗保健的功效和治疗的长期效果。然而，很明显，如果这些医疗记录能够有效地与上述大规模数据联系起来，它们对研究的价值将会增加。例如，根据接受治疗的人的基因，对治疗方法的好坏进行详细调查，并帮助迈向个性化医疗的世界，这将是可能的。从不同来源获取大量不同且复杂的数据并非没有挑战。具有广泛背景的人员需要能够访问和使用这些数据，包括熟悉使用复杂研究数据的研究人员和熟悉获取患者记录的临床医生。还有伦理和隐私方面的问题，以及必要的强大计算基础设施的发展和可持续性，以支持NHS和研究机构之间的数据链接和安全共享。我们的目标是通过创建利兹MRC医学生物信息学中心来克服这些挑战，该中心将开发和维持在临床、健康和研究数据相满足的地方进行突破性研究所需的基础设施、经验和设施。这将通过汇集一个强大的团队来实现，他们之间在相关领域的各个方面都拥有丰富的经验，包括直接病人护理、高性能计算、统计、生物医学和健康研究。该中心将建立在利兹大学，利兹教学医院信托基金（LTHT），一家专门从事医疗记录系统的外部公司（凤凰伙伴关系（TPP））和利兹NHS健康与社会保健信息中心（HSCIC）之间建立和成功的联系之上。该中心将汇集最先进的数据可视化技术，并为在这一迅速发展和复杂的领域培训未来的研究人员提供一个中心。计算基础设施将用于建立一个共享虚拟数据中心（SVD），这将为研究人员提供一个高度安全和强大的计算平台。该中心将在本项目的头两年成立，并将支持越来越多的直接旨在改善保健的研究项目。最初的项目将侧重于遗传性疾病（神经发育迟缓的遗传原因）、肾脏疾病（在并发症出现之前检测肾损伤）、皮肤癌（了解导致其扩散的原因）和结肠直肠癌（了解手术与放疗联合的长期影响）。这些项目将展示我们的中心如何对导致疾病的因素产生新的见解，并提供指示治疗的指标，从而实现更好、更个性化和更有效的药物和卫生保健。

For some years medical research has been advanced by new technologies that generate very large amounts of biological data in digital format, for example, new methods that generate very detailed and often three-dimensional images of arthritic joints or new ways of sequencing DNA that bring information on inherited disease. Until recently many of these methods have been limited to research studies, clinical trials and small numbers of patients but recent advances mean that we can now contemplate a future where every individual may know their genome sequence, and where most people will have medical investigations that generate this type of data in routine practice.In parallel to these developments, the UK NHS is increasingly moving away from using paper to store vital information about patient care and adopting modern computer systems which store patients' health records in a secure electronic format. These patient records are valuable data from which we can learn a great deal about the efficacy of health care and the long term effects of treatments. However, it is clear that the value of these health care records to research will be increased if they can be effectively linked to the large scale data described above. It will be possible for instance to make detailed investigations of how treatments may be better or worse depending on the genetics of the person receiving them, and help move towards a world of personalised medicine.Bringing large amounts of varied and complex data from different sources is not without challenge. The data need to be accessible and usable by those with a broad range of backgrounds, including researchers familiar with using complex research data and clinicians familiar with accessing patient records. There are also issues around ethics and privacy, plus the development and sustainability of necessary powerful computing infrastructure to support the linking and secure sharing of data between NHS and research institutions. We aim to overcome these challenges through the creation of the Leeds MRC Medical Bioinformatics Centre which will develop and sustain the infrastructure, experience and facilities needed to undertake ground-breaking research at the point where clinical, health and research data meet. This will be achieved by bringing together a strong team who between them have extensive experience spanning all aspects of the relevant areas including direct patient care, high performance computing, statistics, biomedical and health research. The Centre will build on established and successful links between the University of Leeds, the Leeds Teaching Hospital Trust (LTHT), an external company specialising in medical record systems (The Phoenix Partnership, (TPP)) and the Leeds-based NHS Health & Social Care Information Centre (HSCIC). The Centre will bring together state of the art technology for visualising data and provide a hub for the training of future researchers in this rapidly developing and complex area. The computing infrastructure will be used to establish a Shared Virtual Datacentre (SVD) which will provide researchers with a highly secure and powerful computing platform. The Centre will be set up over the first two years of this project, and will support an increasing number of research projects aiming directly at health care improvements. Initial projects will focus on inherited diseases (the genetic causes of neuro-developmental delay), kidney disease (detecting kidney injury before complications ensue), skin cancer (understanding what leads it to spread) and colorectal cancer (understanding the long term effects of surgery combined with radiotherapy). These projects will demonstrate the ways that our Centre will develop new insights into the factors that drive disease, and provide indicators that inform treatment leading to better, more personalised and more effective medicine and health care.