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In some ways, Jorge Conde, cofounder of the genomics startup Knome, knows his clients more intimately than any other company president. Knome is the first company to sequence and analyze a consumer’s complete genome. And Conde and his team have spent a full day with each member of their select clientele, going through the minute details of the results in search of hidden genomic time bombs, subtle health risks, and other information.

At $100,000, Knome’s product is still out of reach for most consumers. But that could change fast. The cost of genome sequencing is dropping by an order of magnitude every one to two years, and the cost of Knome’s product will drop with it, though not quite as fast. (When the company debuted its service in late 2007, it cost $350,000.) That means that within the next few years, having your genome sequenced will cost about the same as cataract surgery, making it affordable to include your genome sequence as an integral part of your medical record.

When launching Knome in 2007, Conde wandered into largely uncharted territory–only a handful of complete human genomes had been sequenced at the time. That meant that the company had to figure out how to select and analyze the most relevant information in the genome and then deliver that information to clients in a useful and digestible way. “We have to make sure they are not overwhelmed and don’t misunderstand the information,” says Conde. “This hadn’t been done before, so we wanted to be responsible, informative, and entertaining.”

So far, scientists understand only a tiny fraction of the 3 billion letters of the human genome. Knome’s team developed software that combs both public and private genome databases for the latest in scientific research and then applies the findings to an individual’s genome. The company has also developed new ways to filter and sort that information, developing a genome browser that allows users to search their genome by disease or by chromosome, and presents disease risk based on the level of confidence that can be gleaned from the existing research on the topic. The strength of the link between a genetic variation and a disease varies widely. Some genetic variants are definitively linked to specific diseases, such as cystic fibrosis or Huntington’s disease, others are associated with a high risk of a disease, such as the BRCA mutations and breast cancer, while still others have been linked to a negligible increased risk for common diseases, including heart disease and diabetes.

Conde won’t disclose how many people the company has sequenced so far–only that Knome’s goal for 2008 was to sequence 20 people. “In comparison to the genomes that have been published, we think we’ve done more than anyone,” says Conde. Some clients buy their genome sequence to help plan how to maintain their health. “Others do it for the shear thrill of having a front-row seat of what’s going on in science,” says Conde.

Customers so far have been mostly men–about 80 percent–and mostly in their mid-50s. A significant fraction of Knome’s clients are from outside the United States, thanks to word-of-mouth recommendations from early customers. Dan Stoicescu, a millionaire living in Switzerland who was profiled last year in the New York Times, was the company’s second client. Knome recently signed up two new customers, Harvard professor Henry Louis Gates Jr. and his father, Henry Louis Gates Sr., as part of a new documentary series slated to run on PBS next year.

People interested in having their genomes sequenced first go through an initial consultation “to make sure they understand what we can and cannot do,” says Conde. “When you’re operating at this price point, you don’t want an unsatisfied customer.” One of the biggest controversies in personal genomics to date has been the utility of currently available genetic information, especially for variations that have been only weakly linked to disease. For this reason, consumer genomics companies, including Knome, specify that they are not providing a medical service.

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Credit: Knome

Tagged: Biomedicine, Business, sequencing, personal genomics, Knome

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