19. Final cost of the Human Genome Project

Semiconductor Based Diagnostic Technologies Could Revolutionize Personalized Medicine

                  These emerging technologies offer huge potential to resolve issues

                           Wider access to diagnostic testing will be facilitated in part by the introduction of disruptive technologies.

The final cost of the Human Genome Project has been estimated at approximately $2.7 billion. At the time, researchers predicted costs would need to fall significantly to enable routine genome sequencing and usher in a new era of personalized and predictive medicine. In late 2001, at a scientific retreat convened by the National Human Genome Research Institute, the threshold cost of $1,000 per genome was conceived. Consequently, the “$1,000 genome” has been chased by DNA sequencing platform developers ever since. 

With the recent launch of the HiSeq X Ten system, Illumina appears to have breached the $1,000 barrier to sequence a human genome in a single day. Illumina’s “$1,000 genome” claim is inclusive of instrument depreciation, consumables, DNA extraction, library preparation, and estimated labor. Although the exact cost is widely debated, this indicates a “real-world” figure rather than an abstraction of direct sequencing costs. In this context, it would appear that the personalized medicine era envisioned in 2001 has officially arrived.