Discount Genomes

Personalized medicine

The first draft of the human genome was unveiled in 2000. It took at least a decade to complete and cost billions of dollars to sequence. In 2007, by contrast, the Connecticut biotech start-up 454 Life Sciences duplicated the work in three months for less than $1 million. In August 2009, another start-up, the San Diego–based Illumina, sequenced a customer's genome for less than $50,000. And in September, Complete Genomics, a Silicon Valley company, announced that it had sequenced 14 human genomes, cutting the cost of sequencing to just $4,000 apiece.

At an Institute of Medicine workshop the same month, the British geneticist Timothy Aitman predicted that within a couple of years individuals may be able to buy full personal genetic profiles for just $1,000. As amazing as his projection sounds, he may have been too cautious.

The pace of change in personal genome sequencing is unprecedented, with the field advancing even more rapidly than microchips. The result could be a revolution akin to the explosion of digital technology: a new era of personalized medicine. A huge pool of people with cheaply, quickly sequenced genomes means that researchers can more easily study the genetics of complex common ailments such as cancer and heart disease. Treatments will become more targeted, and customers who show up for their doctor's appointments with genome in hand will be able to better estimate the risk of particular diseases and make informed decisions about preventive measures or early therapeutic interventions.