Decentralising precision medicine patient recruitment and clinical trial research to accelerate drug development

传统上，临床试验过程外包给合同研究机构(CRO)，并通过亲自访问临床试验地点进行，自20世纪80年代以来一直没有改变。在过去的十年里，由于持续的创新和DNA测序成本的降低，我们收集和分析基因组数据的能力发生了巨大变化。由于个性化医学的性质，寻找患者是复杂的，有非常选择性的纳入/排除标准来招募参与者参加试验。CRO有一种成本加成的模式，他们依靠实体网站招募患者，而这些网站往往没有足够的基础设施或患者通道。考虑到政府、学术界、消费者平台和医疗保健提供者的基因组数据分散，这一点尤其困难，其中许多数据不符合基因治疗试验所需的高质量信息。这种结合导致了严重的时间和成本效率低下以及患者登记的高失败率。遗传神经退行性疾病的临床试验，特别是其他常见的复杂疾病，需要大量的时间、资源和资金来在疾病的正确阶段招募适当的患者，许多失败是由于招募和参与不力。潜在的治疗方法通常需要15年时间和1.19亿GB才能推向市场，在第二阶段的试验结果中往往被证明是无效的，或者在随后的更大规模的第三阶段试验中面临登记挑战。这一创新的重点是开发一个完全分散的(在家和数字优先的)基因测试平台，该平台结合了：遗传咨询非侵入性样本收集生物信息学生物信息学在一个平台上返回结果，可在英国和欧盟以多种语言提供。创新的输出将成为一个端到端的平台，用于提供非侵入性样本收集、专有生物信息学分析、遗传咨询、并返回可在独立的云基础设施上提供的结果，以便能够跨具有不同数据隐私法规的一系列司法管辖区进行分散的基因测试研究。该解决方案将解决三个主要客户领域罕见和常见的遗传病：生物制药、生物技术和人口基因组学。

Traditionally outsourced to Contract research organisations ("CROs"), and run through in-person visits to the clinical trial sites, the clinical trial process has not changed since the 1980s.Over the past ten years, there has been a monumental shift in our ability to collect and analyse genomic data due to continued innovation and reduced DNA sequencing costs. By the nature of personalised medicine, finding patients is complex, with very selective inclusion/exclusion criteria to enrol participants into trials. The CROs have a cost-plus model where they rely on bricks-and-mortar sites for patient recruitment, which often do not have adequate infrastructure or patient access. This is particularly hard given the fragmentation of genomic data across government, academia, consumer platforms and healthcare providers, many of which do not meet the high quality of information required for gene therapy trials. This combination results in significant time and cost inefficiencies and a high failure rate for patient enrolment.Clinical trials in genetic neurodegenerative diseases, and other common complex diseases in particular take a significant amount of time, resources, and funding to recruit the right patients at the right stage of disease, with many failing due to poor recruitment and engagement. Taking up to 15 years and ~£119m to bring to market, potential therapies often show promise in Phase 2 trial results, then prove to be ineffective or face enrolment challenges in the subsequent, larger-scale Phase 3 trials.The focus of this innovation is to develop a fully decentralised (at-home and digital first) genetic testing platform that combines:Genetic counsellingNon-invasive sample collectionBioinformaticsReturn of resultsIn one platform, available in multiple languages across the UK and EU.The output of the innovation will be an end-to-end platform for providing non-invasive sample collection, proprietary bioinformatics analysis, genetic counselling, and return of results that can be provisioned on independent cloud infrastructure in order to enable the operation of decentralised genetic testing studies across a range of jurisdictions with different data privacy regulations. The solution will address rare and common genetic diseases across three major customer segments: biopharma, biotechnology, and population genomics.