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The Business of Personal Genomes

Jorge Conde speaks on the complexities of personal genomics.
July 23, 2009

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.

Genomic profile: Shown here is a close-up look at a genetic sequence done by Knome, a personal genomics startup in Cambridge, MA. The image shows a chromosome (top) and the letter-by-letter sequence (bottom) in a small section of that chromosome. The pink box highlights a specific genetic variation.

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.

DNA is then isolated from a client’s blood sample and sent to the Beijing Genomics Institute in China to be sequenced. Once complete, the sequence is analyzed at Knome. In order to assuage privacy concerns, the sequence data, along with the genome browser, reside only on a USB key given to the individual. “With this approach, you are the gatekeeper of your information,” says Conde.

Clients get their key at an in-person meeting devoted to their genomes, where they are schooled by a clinical geneticist, a genetic counselor, a bioinformatician and others. (Clients are invited to bring their personal physicians, says Conde, though most don’t.) “We spend the entire day going through genetics and sequencing 101, and then walking them through their genome,” says Conde. “People often start out tense, thinking there will be a ticking time bomb in their genome. But then they start to relax and ask questions.”

Knome hasn’t yet found any ticking time bombs, such as the genetic variant that causes Huntington’s disease. But Conde says that a couple of people were found to be carriers of genetic variants linked to rare diseases–meaning they will not develop the condition themselves, but might pass it to their children if their mate is also a carrier. And the company has found some rare variants that are highly associated with a particular condition. “One person has a high risk for developing age-related macular degeneration,” says Conde. That gives him the option of doing early screening for the disease, though few preventative treatments are currently available.

Part of the service is figuring out what consumers understand, an issue that geneticists and ethicists have been grappling with as genomic information becomes more complex. “You don’t realize which concepts will connect, which are understood and misunderstood,” he says, adding that clients to date have run the gamut from very knowledgeable to minimally informed about genetics. He says it has been difficult for people to grasp the difference between genetic variations that cause disease, such as the Huntington’s mutation, and those that are merely associated with different diseases–meaning that research studies have found a link between these genetic sequences and a disease, but it’s not clear what role the gene plays or how strongly it increases disease risk in an individual. The latter represent the majority of disease-linked mutations identified to date.

Conde says that the lessons learned from the early adopters will serve the company well as more people can afford to invest in genome analysis. The company is currently developing a new, more-automated genome-interpretation service that will be offered in conjunction with genome sequencing from Illumina, a genomics technology company headquartered in San Diego. Illumina announced last month that it would offer personal genome sequencing for $48,000, but with minimal analysis of the data included. Analysis of the meaning of the human genome is proving to be more much more complicated than the sequencing itself. “In the long-term, that will be a big driver of value,” says Conde. “We will see the high price point go away, and the real value for both individuals and companies will be to provide an ongoing narrative.”

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