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Kickstarter Campaign Aims to Democratize Full Genome Sequencing

GeneHub is offering whole genome sequencing for $3,490, but are consumers ready to buy?

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Would you pay $3,490 to know your full genomic makeup?

GeneHub, a San Francisco startup, plans to launch a Kickstarter campaign Tuesday, offering consumers the whole genome sequencing typically reserved for research institutions.

Most personal genetics companies like 23andMe sell what are known as SNPs tests, which only look at a subset of the human genome, while the labs that do full genome sequencing, which is far more detailed and expensive, generally won’t do one-off tests for consumers.

GeneHub is aiming at the gap between the two. The company told Re/code it plans to outsource the sequencing to various labs, providing them the bulk orders necessary to make it worth their while. Meanwhile, GeneHub will handle regulatory issues like HIPPA compliance and host the data for consumers, allowing them to explore, download and analyze their own genome.

The company will not offer its own interpretive health analysis of that data, steering clear of the business line that landed 23andMe in trouble with the FDA. They’re also not initially providing ancestry analysis, which 23andMe, Ancestry.com and others offer.

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Chief Executive Hampton Catlin is the first to admit that GeneHub’s service isn’t a mainstream product. In fact, he says there’s not a lot that most people can learn definitively about their health from their genome today (except for very bad news.)

But Catlin, best known for developing the Web language Sass and creating the Wikimedia mobile site, also believes there are great insights hidden in our genomes that will be revealed as more information is collected and analyzed. So he wants to put the data and tools into the hands of citizen scientists and genetic hobbyists ready to explore in new ways.

The company hopes to raise at least $125,000 through the campaign. As part of the pitch, it’ll mail out saliva collection kits to backers by the end of the year and return results within at least eight weeks.

Despite the overall enthusiasm around science startups, it has been a rocky road for crowdfunding and health offerings to date, leaving some observers concerned that entrepreneurs are bypassing the traditional grant and peer-review process that properly vets scientific claims.

While certain sites clapped along, the journal Nature raised troubling questions about the Immunity Project’s scientific strategy for developing an HIV vaccine. The “GoBe activity tracker” raised hundreds of thousands on Indiegogo even as medical experts said it couldn’t do what was being claimed. And the Scanadu Scout, designed to read a handful of vital signs, is now months behind schedule.

In this specific case, GeneHub seems to be handing off most of the hard biological science to the sequencing labs and DNA Genotek, which provides the oral test kits.

The novel addition here is the analysis tools. When asked why consumers should have faith that they’ll be accurate and useful, Catlin stressed they’re basically integrating together industry-standard components, methods and information sets into a simplified interface.

Over time, the company intends to offer increasingly sophisticated tools, means of collaborating with other researchers and the ability to build applications on top of their platform. The genomic information will be secure and private by default, but people will be able to select various options for sharing it with other researchers.

Catlin hopes GeneHub will help spur greater demand for genomic tests and thereby lower prices, nudging the field forward.

“We’re a company with a mission and that mission is really to improve science,” he said.

Or as the Kickstarter campaign puts it:

Getting your whole genome sequenced today is like being one of the first people to buy a home computer. As with computers in the late 1970s, large institutions aren’t really sure what to do with this new, more affordable technological advancement. It wasn’t until the technology was made available to everyone that we really saw an explosion in innovation that now has us carrying around connected super computers in our pockets. We believe that a similar bioinformatics revolution is just around the corner. The democratization of bioinformatics is what will finally unlock major breakthroughs in genomics research.

The company does, however, already face some brand name competition in the full genome space.

Illumina offers various whole genome sequence tests itself, when they’re ordered through a physician, starting around $5,000 if the doctor or other party does the analysis. (Illumina made headlines earlier this year by announcing the $1,000 genome had arrived, but that’s a wholesale price based on a specific set of conditions.)

Meanwhile, 23andMe spokeswoman Catherine Afarian said in an email that full sequencing is on that company’s radar, but its $99 SNPs test is already relatively expensive for many. The Mountain View, Calif., business has explored interest levels in the more detailed exome sequencing, briefly offering a pilot $999 test that analyzed 100 million DNA base pairs in 2011.

“There’s no doubt that we’ll move to full sequencing technology at some time in the future,” Afarian said. “But it is hard to predict exactly when it will be available at an affordable price point for the general public.”

Update:

Catlin said that steering clear of interpretive health information should allow the company to avoid FDA scrutiny.

Hank Greely, director of the Center for Law and the Biosciences at Stanford, isn’t so sure it will — and isn’t so sure it should.

He notes that current whole genome sequencing technology does produce errors of various kinds — and even one mistake every one million DNA base pairs would add up to thousands of errors.

“Who is going to make sure they are accurate?” he said in an email. “Or, at least, make sure they give their customers an honest and accurate assessment of just how (in)accurate they are? I think someone should — and that someone probably shouldn’t be the company itself.”

This article originally appeared on Recode.net.

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