The $1,000 Genome and Laboratory Testing

IT WAS 1953 WHEN JAMES D. WATSON AND FRANCIS CRICK, working from X-ray data collected by Rosalind Franklin, described the double helix structure of the DNA molecule. That discovery inspired scientists to begin investigating the genetic basis of life.

In the 56 years since Watson and Crick published their findings, there has been steady progress at cracking open the human genome. One useful marker for this progress is the declining expenses required to sequence a base pair of DNA. In 1990, it cost $10 to sequence one base pair of DNA. Currently, Knome, Inc., says it will sell a whole genome sequence to anyone for $20,000. That represents a cost of $0.0003 per base pair of DNA.

But wait! That’s not all… Complete Genomics, Inc., is selling a whole human genome for $20,000. That is a further reduction of 80% in the cost to sequence one base pair of DNA. (See pages 13-16.) These two examples demonstrate that both the cost and time required to sequence the entire human genome are rapidly falling to the goal of $1,000 and one hour.

I predict this will have a profound effect on laboratory medicine as we know it today. For the first time in human history, it will be economically feasible and scientifically possible to sequence the entire genome of individual humans. As many of you are aware, this is expected to revolutionize the prescription drug industry. It will also play a role in helping physicians make pre-symptomatic diagnoses for a variety of diseases.

But, it is the second application of cheap, fast, accurate gene sequencing that will be disruptive to pathology and laboratory testing as we know it today. Imagine the ability to use a lab-on-a-chip, operated within a hand-held device, to do sophisticated molecular analysis of a patient’s specimen, for pennies per gene, that produces highly sensitive results in minutes.

To me, this is the more significant point about the race to the $1,000 whole human genome, sequenced in one hour or less. The same technologies which enable this achievement will be downsized and miniaturized for the express purpose of supporting sophisticated molecular assays to be performed in clinical laboratories, physicians’ offices, point-of-care (POC) settings, and maybe even for patient self-test purposes. Although this will be disruptive to existing clinical and business models for pathology and clinical lab testing, it will also create tremendous new opportunities for the pathology profession.


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