The $1,000 genome question has turned into, “How can we understand this data?”

His most recent book is called The $1,000 Genome, but Kevin Davies says that the $100 genome isn’t out of reach in the move toward personalized medicine.

The author and editor-in-chief of Bio-IT World laid out a brief history of whole genome sequencers – from the Roche 454 system that took off in the mid-2000s to the ionTorrent that Life Technologies says could soon sequence the genome for $1,000 in one day – at the BioOhio Regional Annual Conference on Wednesday.

While $1,000 has long been regarded as the tipping point for mass genome sequencing, the rate at which the price of sequencing a human genome has dropped has “crushed Moore’s law,” Davies said. “The $100 genome makes sense.”


Life Technologies and Harvard Medical School professor George Church may be the only ones who have officially thrown their hats in the ring for the $10 million Archon Genomics X Prize, but many others have made ambitious promises in the quest for affordable, accessible genome sequencing.

Pacific Biosciences, for example, once predicted it would have a 15 minute genome sequencer by 2013. “But they’re struggling, and it’s unclear whether they can live up to that,” Davies said.

BioNanomatrix and Complete Genomics have been working for five years now on a government-funded project with the goal of developing a way to sequence a patient’s entire genome in under eight hours for $100. And IBM has said it might be able to get the cost down to $100.

The most promising company Davies said he’s interested in is Oxford Nanopore, which said just last week it was ready to debut its $900 complete DNA sequencer that’s as big as a thumb drive.

BGI, the world’s largest genome sequencing lab, now churns out thousands of human genomes in a day. “The cost of sequencing is becoming almost irrelevant,” Davies said. “It’s now a computational issue.”

It’s becoming more apparent that the real cost of sequencing lies in interpretation of the genome data that these machines spit out. That’s where small companies like Enlis Genomics, GenomeQuest, Omicia, Genomatix, deCODEhealth, SoftGenetics, DNAnexus and NextBio (the list goes on) become critical in providing quick, affordable data analysis software. Knome, the data company co-founded by Church, has even created a supercomputer designed to sit next to a sequencer and run the company’s analysis software.

That also means finding a way to teach medical providers to translate the data into meaningful information for patients. “How can we train physicians to understand this data?” Davies queried. “How can we train enough genetic counselors?”

But that’s not an unattainable feat. “In the future, I think we will sequence our genomes once, and doctors will reference it often,” he said.

[Photo from the National Human Genome Research Institute]

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