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Pacific BioScience Has A $1000 Genome Test That Could Save Your Life -- and the Industry

By Rachel Lehmann-Haupt

Updated on: March 4, 2010 / 10:21 PM EST / MoneyWatch

Last week, Pacific BioSciences, which claims it will map a genome in 15 minutes for less than $1000 by 2013, announced several new partnerships which they say will help customers "rapidly and easily adopt" their sequencing technology. That's big news, because Pacific BioSciences's customers are ten research institutions, including major players in genetics like The Broad Institute at Harvard University, Cold Spring Harbor Laboratory, The US Department of Energy Joint Genome Institute, and eleven partner companies.

This announcement puts PacBio out front in the race for the Holy Grail $1000 genome. Among scientists, there's a consensus that full genome mapping is the killer app for the entire field of genomics. First generation recreational genetics companies like 23andMe and deCode -- the latter recently relaunched to much skepticism after going bankrupt last year -- map only partial genomes. While these companies help raise consumer awareness about genetics, mapping full genomes, scientists argue, is the key to individualized genetic information -- and the essential ingredient to the industry's success.

Jorge Conde, CEO of Knome, a Cambridge, MA-based company that now maps full genomes for $99,000 says, "If you're looking at common markers, you're only looking at common conditions. What really drives genetic risk isn't what's common to all of us, but what's rare and individual."

The key obstacle is the high cost of sequencing. Most in the industry agree that $1000 is the right price for it to be embraced by doctors -- and even more crucially -- covered by health insurance. A lower price is as important to the personalized medicine business as cheaper microprocessors were to the technology business.

The key players who are racing to get the price down include Knome, which was originally mapping genomes for $350,000 and has now lowered their price to 99,000, Illumina,Inc. which recently announced the launch of a new sequencing machine that will decode a person's in a week for $10,000. Helicose BioSciences mapped scientist Stephen Quake's genome for $50,000. Other players include Applied Biosystems, 454 Life Sciences (a Roche company), Complete Genomics, Pacific Biosciences, and Ion Torrent Systems.
Over the weekend, at the Advances in Genome Biology and Technology conference on Marco Island, Florida, Ion Torrent unveiled a 50,000 electronic sequencer. Jonathan Rothberg, the founder and CEO of Ion Torrent, told GenomeWeb News that the sequencer will be able to generate hundreds of millions of base pairs at the cost of $500 per run.There's a good analysis on why this machine is so cool at MassGenomics:

It's slightly larger than a bread box. When opened, it's little more than a motherboard with a few wires running into it. The real engineering marvel is the semiconductor chip itself, which is tiny and packed with about 1.5 million pH-sensitive wells.

Ion Torrent will be the company to watch exactly because of this semiconductor chip, and PacBio for its customer relationships. Now PacBio's key challenge is to keep close tabs on these early adopter customers to work out the kinks in their technology. If they can do that -- big if -- the $1000 full-genome might happen sooner rather than later.

Photo: Ynse