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High-Throughput, Whole-Genome Sequencing

Since the completion of the Human Genome Project, research focusing on the consequence of known human genetic code has advanced by leaps and bounds. The development of personalized medicine, a field focused on enumerating the effects of individual genetic variations, termed SNPs, has become a reality for those researching the molecular basis of disease. With clinical correlates between genotype and prognosis becoming ever more common, the utility of personal genetic screening has become impossible to ignore. In this report, we present PennBio: a whole-genome sequencing company utilizing a novel single-molecule, real time sequencing-by-synthesis technology. Using unique zero-mode waveguides, which have revolutionized single-molecule detection, individual enzymes polymerizing novel phospholinked fluorescence labeled nucleotides can be observed as they sequence genomic template DNA. Modern optical techniques record these fragmented sequences, which are then analyzed by highly efficient alignment algorithms. A personal genomic code will ultimately allow consumers to be aware of their genetic predispositions as the medical community continues to discover them. After six months of thorough analysis and careful planning, we are prepared to present PennBio – a cutting-edge, whole-genome sequencing operation based upon the innovative SMRT chip technology. Current genetic screening providers focus almost exclusively on mutations already associated with particular diseases, effectively limiting their clinical relevance to the domain of contemporary genomic understanding. A whole-genome sequence, on the other hand, is an invaluable diagnostic and prognostic resource that becomes more effective with advances in the field molecular diagnostics. An initial Series A investment of $700,000 would be required to develop a working prototype, followed by $2.6 million in Series B funding and a year to reach full production. While competitors' prices are well in excess of $100,000, we have demonstrated a minimum sustainable price of $2,000 while still offering Series A investors a 16% MIRR. At a more realistic price of $4,000, Series A investors can expect a worst-case MIRR of 34%, with an ultimate NPV of no less than $2.5 million. We are confident that PennBio will deliver superior-quality, high-throughput whole-genome sequencing at a price that is expected to bring the promise of personalized medicine to as many as 3,000 customers each year.