I-Corps: Customer discovery for algorithm commercialization

I-Corps项目的更广泛影响和商业潜力与精准/个性化医疗的发展有关，特别是使用下一代测序（NGS）在发现基因组变异的准确性和速度方面急需的改进。个性化医疗概念基于个体基因组变异，个性化医疗市场预计到2022年将达到1780亿美元。快速准确的变异发现产品的成本优势将与这个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年的1万个公开可用的人类基因组到英国的10万个基因组计划，再到美国（精准医学计划和百万退伍军人计划）和中国提出的规模更大、但定义不太明确的100万参与者的测序项目。在可预见的未来，对整个美国人口进行测序可能是一个重要的场景，可以节省数十亿美元的成本，从而使这种努力更加可行。这个I-Corps项目将使创业教育和客户发现一种软件，该软件将基于一种新的基因组变异检测综合方法GROM（基因组重排Omni-Mapper）。GROM拥有闪电般的运行速度，比最先进的变体检测管道快一个数量级。在大大减少计算时间的同时，与常用算法相比，GROM提供了更好的整体变异检测。与现有工具相比，这些在速度和精度方面的独特优势可能使GROM成为该领域非常理想的应用程序（通过许可或按使用付费的商业模式使用）。这需要对潜在市场和客户发现有更好的了解。这一进程将包括I-Corps讲习班的教育部分和通过与商业和非商业实体的许多潜在技术用户的会议和积极沟通进行的发现部分。客户发现工作可能会导致制定适当的商业计划，以吸引潜在的初创公司的投资，这些初创公司将执行产品的进一步开发和许可。该奖项反映了美国国家科学基金会的法定使命，并通过使用基金会的知识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.