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.”