Edinburgh-St Andrews Consortium for Molecular Pathology, Informatics and Genome Sciences

人类基因组计划和随之而来的技术进步，包括最近出现的“千美元基因组”，为医学开辟了新的可能性，包括基于基因组信息进行更精确的分子诊断和个性化治疗的机会。这些技术现在正处于一个阶段，通过适当的验证和优化，它们将很快被转移到常规临床护理中，以加速疾病诊断和改善患者预后。然而，要将诊断和病理学的这种“阶跃变化”成功地引入临床，将需要来自多个领域的专业知识的协调行动，包括物理科学，培养现代病理学家，熟悉多种先进技术。爱丁堡-圣安德鲁斯分子病理学节点将整合爱丁堡大学和圣安德鲁斯大学在分子病理学方面的优势，诊断（培训，开发和临床实施），复杂表型和计算的图像分析，与大学和NHS洛锡安内可用的基因组医学和基因组科学经验的广度。这些优势包括拥有大量现有MRC、EPSRC和慈善投资的机构和中心，包括MRC人类遗传学单位、MRC法尔研究所、CRUK癌症中心和EPSRC资助的超级计算机和光学成像设施。该节点的主要目标是：（1）培训新一代分子病理学家，使他们能够利用现代基因组分析辅助方法诊断和治疗人类疾病;（2）利用新技术的优势开发新的测试和临床应用;（3）创建新算法、标准操作程序，数据流方案和先进的统计和计算方法，将直接促进分析基因组学和成像方法产生的大量和复杂的数据，在临床上实施这些新的分子病理学方法。我们将专注于我们认为基于基因组的检测将最快进入临床的临床需求领域，特别是急性疾病儿童和婴儿的基因诊断，先天性畸形胎儿的基因诊断，成人常见疾病的遗传亚型，以及通过发展来自细胞的“液体活组织检查”来诊断和监测癌症患者，循环血液中的游离DNA。拟议工作的重要部分将由执业临床医生和诊断医生在专门设计的分子病理学硕士研究计划的框架内完成，许多领域的专家将为此做出贡献，包括位于爱丁堡皇家医院的分子遗传学和病理学英国国家外部质量保证计划（UK NEQAS）中的那些。我们将与来自生物技术和制药行业的世界领先的合作伙伴一起开发和整合这些基于基因组和成像的方法，以在医疗保健中实施新的诊断方法，并培养和维持一代“基因组熟练”的病理学家，他们将成为将这些方法引入下一代医生和科学家常规实践的领导者。

The human genome project and the technological advances that accompanied it, including the recent advent of the "thousand dollar genome" have opened up new possibilities in medicine, including the opportunities for more precise, molecular diagnoses and personalised treatment based on genome information. The technologies are now at a stage where, with appropriate validation and optimisation, they will soon be moved into routine clinical care to accelerate disease diagnosis and improve patient outcomes. However, to introduce this "step-change" in diagnostics and pathology successfully into the clinic, will require the coordinated action of expertise from multiple fields, including the physical sciences, and training of modern-style pathologists to be familiar with multiple advanced technologies.The Edinburgh-St Andrews Molecular Pathology Node will integrate the proven strengths of the Universities of Edinburgh and St Andrews in molecular pathology and diagnostics (training, development and clinical implementation), image analysis of complex phenotypes and computing, with the breadth of genome medicine and genome sciences experience available within the Universities and NHS Lothian. These strengths include institutes and centres with substantial existing MRC, EPSRC and charitable investment including the MRC Human Genetics Unit, MRC Farr Institute, CRUK Cancer Centre and EPSRC-funded supercomputer and optical imaging facilities. The main aims of the Node will be: (1) training a new generation of molecular pathologists capable of handling modern genome-analysis-aided approaches to diagnosis and treatment of human disease; (2) developing new tests and clinical applications utilizing the advantages of novel technologies; (3) creation of new algorithms, standard operating procedures, data flow schemes and advanced statistical and computational methods that will directly facilitate analysis of the vast and complex data generated by genomics and imaging methods, to implement these new molecular pathology approaches in the clinic. We will focus on areas of clinical need where we believe genome-based assays will most rapidly enter the clinic, particularly the genetic diagnosis of acutely ill children and babies, genetic diagnosis in fetuses with congenital malformations, inherited subtypes of common diseases in adults, and the diagnosis and monitoring of patients with cancer through development of "liquid biopsies" from cell-free DNA in circulating blood.A significant part of the proposed work will be done by practicing clinicians and diagnosticians in the framework of a purpose-designed Masters Research Programme in Molecular Pathology, to which experts in many fields will contribute, including those in the UK National External Quality Assurance Scheme (UK NEQAS) for Molecular Genetics and Pathology, which is based at the Royal Infirmary in Edinburgh. Together with our world-leading partners from the biotechnology and pharmaceutical industry, we will develop and integrate these genome and imaging-based methods to implement new diagnostic methods in healthcare and to produce and sustain a generation of "genomically-skilled" pathologists who will be leaders in the introduction of these methods into routine practice for the next generation of doctors and scientists.