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.