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How cheaper genomes fuel science

The cost of whole-genome sequencing is dropping like a rock, and that’s fueling a “renaissance of activity” for scientific sleuths tracking down the genetic causes of disease, a pioneer in the field says.

Harvard geneticist George Church provided a status report on the genome market, and its implications for medical research, during this week's "Open Questions in Neuroscience" symposium in Seattle, sponsored by the Allen Institute for Brain Science. Church is not only a Harvard professor and research, but also the founder of the Knome commercial venture for genome-sequencing.

Thanks to competition in the sequencing field, the price of decoding a complete human genome has been following an affordability curve that looks like Moore's Law on steroids. The cost of the federal Human Genome Project, which issued its first draft in 2000 and a complete genome sequence in 2003, was estimated at $2.7 billion in 1991 dollars. But that price tag has been falling by as much as an order of magnitude per year, and today the going rate for whole-genome sequencing is edging below $10,000 (counseling costs extra). The cost of materials — that is, the chemical reagents required to do the tests — is merely $1,000, Church said in June.

That might suggest that the goal of the $1,000 genome could be achieved in the next year, but Church told me there might be a price plateau instead. In any case, the rapid price decline is reviving hopes that DNA tests can reveal which combinations of genes are linked to extreme or distinctive traits.

Church pointed to the example of Charcot-Marie-Tooth syndrome, a disease that affects nerve function in the body's extremities. In March, researchers at the Baylor College of Medicine announced that they unraveled the genetic cause of the disease by sequencing the entire genome of a sufferer (who happened to be a Baylor geneticist) and comparing genetic mutations with those found in his parents and siblings. Another study at the Institute for Systems Biology concluded that no more than four genes were responsible for another rare disease known as Miller syndrome, thanks to whole-genome sequencing for a family of four.

To accelerate the genomic renaissance, Church established the Personal Genome Project, which is aimed at producing a publicly available database of genome sequences linked to medical data. So far, 16,000 volunteers have signed up, and the project has the go-ahead to sign up as many as 100,000. But less than two dozen people have made their complete genome public. One reason for that is the concern over privacy. But Church told me the biggest reason why more people aren't already "Personal Genome Pioneers" is because of the cost. Sounds like that situation could change pretty darn quickly.

"Open Questions in Neuroscience" also included presentations by:

  • Susumu Tonegawa, a Nobel-winning neurobiologist at the Massachusetts Institute of Technology who focuses on the genetic and chemical mechanisms that underlie learning and memory.
  • Stephen Smith, a physiologist at Stanford University whose lab explores the brain's microcircuitry and molecular architecture.
  • Olaf Sporns, a neuroscientist at Indiana University whose research centers on designing computational models of neural circuits.
  • Karel Svoboda, a biophysicist at Howard Hughes Medical Institute's Janelia Farm Research Campus who observes neurons at work within mouse brains.
  • Doris Tsao, a biologist at Caltech who concentrates on the brain mechanisms behind image recognition and 3-D perception.
  • Catherine Dulac, a Harvard biologist who studies the olfactory system as well as the processing of pheromone cues.

Check out the full list of postings from the brain symposium. Join the Cosmic Log corps by signing up as my Facebook friend or hooking up via Twitter. And if you really want to be friendly, ask me about "The Case for Pluto."