Development of a JBS Hi-Lo urine DNA kit There is a critical need for sensitive and cost-effective technologies that can obtain high quality and comprehensive genomic data from easy-to-collect and handle human specimens. Currently, fresh or frozen whole blood is the most commonly used source to obtain high quality and comprehensive genomic data. However, the use of whole blood requires stringent collection, handling, and storage conditions. Alternatively, other minimally-invasive specimen types (such as dried blood spot, buccal swab, etc.) provide limited and low quality starting material for genomic analysis. JBS Science Inc. proposes a method utilizing urine as the source for both germline and cell-free circulating DNA based on our successfully accomplished phase I feasibility study. The objective of this project is to develop the JBS Hi-Lo urine DNA kit, which will provide a complete end-to-end solution addressing all steps including sample collection, storage, transportation and nucleic acid extraction. This kit will generate DNA suitable for whole genomic sequencing applications for both clinic and research purposes, such as (but not limited to) cancer diagnostics, tumor mutational load for predicting benefit from immunotherapy, precision medicine, prenatal diagnostics, and transplant monitoring. In the Phase II of this study, we will develop a sensitive and cost-effective market-ready JBS Hi-Lo urine DNA kit that is user-friendly with regard to room temperature storage and transportation. The kit will be validated in a blinded study that evaluates the recovery of HCC ctDNA markers obtained from urine and DNA from matched blood, from patients with HCC and will compare their ability to provide high quality DNA for obtaining comprehensive genomic information.
With advancing genomic technologies and simultaneous falling costs of whole genome sequencing and analysis, there is an opportunity to enhance clinical and public health value of genetic tests by expanding them to deliver comprehensive genomic data from human specimens that are easy to collect and handle. We propose our method of using urine DNA which is absolutely non-invasive and is of particular value in remote and under-sourced environments. The goal of this project is to develop the JBS Hi-Lo urine DNA kit that will provide a complete end-to-end solution to address all the steps from sample collection and nucleic acid extraction to next generation sequencing (NGS) for obtaining complete genomic information for various applications in clinic and research.
