I-Corps: Customer discovery for algorithm commercialization

该 I-Corps 项目的更广泛影响/商业潜力与精准/个性化医疗的发展有关，特别是与使用下一代测序 (NGS) 查找基因组变异的准确性和速度急需的改进有关。个性化医疗概念基于个体基因组变异，预计到 2022 年个性化医疗市场将达到 1780 亿美元。快速准确的变异发现产品的成本优势将与该市场中用户分析的基因组数量成正比。最近，全基因组测序项目的规模和范围呈指数级增长，从 2016 年公开的 10,000 个人类基因组到英国的 100,000 个基因组计划，再到美国（精准医学计划和百万退伍军人计划）和中国提出的涉及 1,000,000 名参与者的更大但定义不太明确的测序项目。在可预见的未来对整个美国人口进行测序的可能且重要的场景中，节省的成本可能高达数十亿美元，从而使此类努力变得更加可行。I-Corps 项目将为基于基因组变异检测的新型综合方法 GROM（基因组重排 Omni-Mapper）的软件提供创业教育和客户发现。 GROM 拥有闪电般的运行时间，比最先进的变异检测管道快一个数量级。与常用算法相比，GROM 在大大减少计算时间的同时提供了卓越的整体变异检测。这些在速度和精度方面优于现有工具的独特优势可以使 GROM 成为该领域非常理想的应用（通过许可或按次付费商业模式使用）。这需要更好地了解潜在市场和客户发现。该过程将包括 I-Corps 研讨会的教育部分，以及通过会议和与商业和非商业实体中该技术的众多潜在用户进行积极沟通的发现部分。客户发现工作可能会导致制定适当的商业计划，以吸引对潜在初创公司的投资，该初创公司将进一步开发产品并获得许可。该奖项反映了 NSF 的法定使命，并通过使用基金会的智力价值和更广泛的影响审查标准进行评估，被认为值得支持。

The broader impact/commercial potential of this I-Corps project relates to the developments in precision/personalized medicine, and specifically, to much-needed improvements in accuracy and speed of finding genome variants using next-generation sequencing (NGS). The personalized medicine concepts are based on individual genome variants and the personalized medicine market is expected to reach $178 billion in 2022. The cost advantage of a fast and accurate variant-finding product will be proportional to the number of genomes analyzed by users in this market. There has been a recent exponential increase in the size and scope of whole genome sequencing projects from 10,000 publicly available human genomes in 2016 to the UK 100,000 Genomes Project to even larger, though less-clearly defined, sequencing projects involving 1,000,000 participants proposed in the US (Precision Medicine Initiative, and Million Veteran Program) and China. In a likely and important scenario of sequencing the whole US population in the foreseeable future, the cost saving could be several billion dollars, thus making such efforts more feasible.This I-Corps project will enable entrepreneurial education and customer discovery for a software that will be based on a novel comprehensive method of genome variant detection, GROM (Genome Rearrangement Omni-Mapper). GROM boasts lightning-speed runtimes, an order of magnitude faster than state-of-the-art variant detection pipelines. While drastically reducing computational time, GROM provides superior overall variant detection compared to commonly employed algorithms. These unique advantages over available tools both in speed and precision could make GROM a very desirable application in this field (utilized via either licensing or pay-per-use commercial models). This will require a better understanding of a potential market and customer discovery. The process will include an educational component at I-Corps workshops and a discovery component via meetings and active communication with numerous potential users of the technology in commercial and non-commercial entities. The customer discovery effort may result in developing an appropriate business plan for attracting investments in a potential startup that will perform further development and licensing of the product.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.