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The Future of Medicine Is in Your DNA


Posted by Brian Buntz on February 27, 2012

Following the completion of the first draft of the human genome in 2000, Bill Clinton hailed the breakthrough as possibly the most important scientific discovery in the 20th century. Two years ago, the New York Times ran a somewhat pessimistic article titled “A Decade Later, Genetic Map Yields Few New Cures.”


Nevertheless, genomics technology is advancing at a tremendously fast clip. Sequencing the first human genome took 13 years at a cost of nearly $3 billion. Just recently, Oxford Nanopore Technologies announced that it had developed a machine that could sequence an entire human genome in a single day for less than $1000.

To encourage further progress, and to refine the accuracy of sequencing technology, the Archon Genomics X Prize is seeking to help define for the first time what a medical-grade whole genome sequence is. “Over the last number of years, the industry has really been stuck in kind of a research level for whole genomic sequencing and there has been no real definition of what it will take to define a medical-grade genome,” says Grant Campany, senior director of the $10-million prize.

Archon Genomics X Prize

The organizer of the prize is working on establishing a validation protocol to score submissions in the competition. The group is creating a novel methodology that allows sequences to be validated against the strict criteria. “We are using a very robust and methodical process for looking at particular regions of the genome and making sure that the reference set that we grade has been validated by multiple platforms,” Campany says.

The competition, which will be launched in January 3, 2013, will give competitors 30 days to sequence the genomes of 100 subjects at a cost of $1000 or less per genome.

The Medco 100 Over 100

As for whose genomes will be sequenced, the foundation is recruiting one hundred healthy centenarians to take part in the project. “What we are trying to do with this is to provide a seed crystal that will help support researchers,” Campany says. This will help support longevity research as well as provide a reference genome for researchers.

The idea behind using centenarians in the contest is multifaceted. For one thing, it will help drive longevity research forward. In addition, it will help create human interest stories that will help catalyze interest in genomic sequencing. “We are positioning the centenarians as genomic pioneers, referred to as the 'Medco 100 Over 100,'” Campany says. “They are paving the way for others to follow,” he adds. “Part of our mission is to help educate the general public on what is store for them in how technology will help share their views of their own health and how they will really manage their own health,” he explains.

 Irving Kahn is among the centenarians featured in X Prize Life@100+ community.

Laying the Groundwork

Another aim of the contest is to create broad-based support and awareness for whole genomic sequencing technology, which, in five years or so, will be readily available and inexpensive. The contest is designed, in a way, to help prepare the marketplace for these breakthroughs, according to Campany. “We want to help open up the public debate so people aren’t fearful and look at genomic sequencing like it is a Big Brother thing,” he says. 

The X Prize Foundation is kicking off a public phase of the competition, which would enable any lab around the world with the capability of genomic sequence and the opportunity to obtain one or two publicly available genomes from Coriell. “The lab could then sequence those genomes, download our software, and score their performance relative to our standards using the software,” Campany says.

A pictorial representation of the public phase of the competition.
The public phase of the Archon Genomics X Prize will kick off in the spring of 2012. The competition is engineered to set the standard for whole human genome sequencing (WGS). 

"We need hundreds of thousands or millions of people to get their genome sequenced so that researchers can actually have a big enough population to work with. And in order for that to occur, people have to feel comfortable. And that is the one of the reasons why we are involving government in all of this. We want to be able to pull in the public into this conversation but also involve the government so it can address the public's concerns in terms of legislation and policies."

Some legislation to protect against genetic discrimination is already in place. For instance, the Genetic Information Nondiscrimination Act was established in 2008 to protect people who get their genomes sequenced against discrimination. The legislation "prevents [an insurance] plan or issuer from imposing a preexisting condition exclusion based solely on genetic information, and prohibits discrimination in individual eligibility, benefits, or premiums based on any health factor," according to United States Department of Labor.

Legacy

In creating a bioinformatics platform and a standard for whole genomics sequence for this competition, the Archon Genomics X contest organizers seek to create a legacy that benefits medicine. “The idea is that once the competition is over, the industry can use and benefit from the efforts that were put forth in the competition,” Campany says. The benefits of genomic reserach to society could be tremendous. "So in order to get there we need people to step up and embrace this because, unless they do, we won’t ever know what the possibilities are," Campany says. "It may be that they don’t directly benefit, but successive generations will. It is just about paving the way." 

CBS Los Angeles recently featured the X PRIZE Genomics competition on the air. The video above is from their broadcast.

 

—Brian Buntz 

Brian is the editor-at-large at UBM Canon's medical group. Follow him on Twitter at @brian_buntz.


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