There were fireworks on the beach at Marco Island, Fla., Thursday night, where 575 genome experts had gathered to discuss serious progress in genomics at the annual Advances in Genome Biology and Technology conference.
I last saw fireworks at a genomics conference in 2000. Back then, euphoria around the first human reference sequence reached a frenzy and many companies including Celera were moving to turn it to commercial advantage, funding a lot of fireworks and champagne in the process. But since then, though the human genome sequence has revolutionized drug development and our understanding of human biology, the average consumer has seen little direct benefit.
Eight years later, this is the second wave. The fireworks are back because a generation of new technologies is promising to drop the cost of generating the complete DNA sequence of any human to $1,000 – though we’re not there yet.
As little as two years ago it still cost $10 million to sequence a human genome. By last year, the price was down to maybe $3 million. At last week’s meeting, that figure dropped precipitously. First there was the unveiling of a human genetic sequence produced for $100,000, using a machine that you can buy today. Then, the same day, there was the announcement that a new machine will soon be available to do the job for an estimated $72,000. By some estimates, the cost of sequencing a human genome could be a few thousand dollars by 2014.
23andMe is already riding this wave. A dozen years ago it would have cost about $600,000 to examine the 580,000 points, known as SNPs, that we include in our $999 service. Eventually we’ll be able to give you your complete sequence for that price.
But at 23andMe we believe, as one of the conference speakers noted, that the bigger challenge right now is collecting so-called phenotypic information. Phenotype is all the physical and behavioral stuff your genotype can affect, such as height, eye color and disease susceptibility. Both genotype and environment influence phenotype, and the research challenge is to gather and interpret the connection between the two. We can then make more detailed and accurate predictions from your genome.
As the smoke blew across the beach, the future seemed clear. Genomic information is already being used for diagnosing novel fatal viruses in transplant recipients, understanding adverse drug responses and determining which mutations a cancer harbors and which drugs may work against it. Prices have come down 100-fold for DNA sequencing in the last five years and will likely continue on that trajectory. In the last talk of the meeting, we learned about a new method of DNA sequencing that might one day enable your genome to be read completely in a few hours. That seems worthy of fireworks.