Nonetheless, early adopters could give scientists insight into how to use the mammoth resource that is our genomic information. “They are trying to answer some of the more thorny questions about how this deluge of information will be used,” says Evans. “I believe it will give us some kind of idea of how to deal with this information when the price is more like $3,000.”
To provide a customer with personalized genome data, Knome extracts DNA from a blood sample and sends it to the Beijing Genomics Institute for sequencing. A team of informatics experts and medical consultants then analyzes the information, tailoring the process according to the interests of the client. “Each one is crafted to the individual,” says George Church, founder of the company and a geneticist at Harvard Medical School. (Church started the company to deal with the frequent requests that he fielded from wealthy people wanting to sequence their genomes.)
The first things the analysts look for are small variations that are found frequently in the broader population and have been linked to increased risk for myriad diseases. They then look for other types of genetic changes–including DNA deletions or duplications–linked to specific diseases. Lastly, they scan the genome for novel variations, changes that have not yet been spotted in the limited amount of human DNA that has been sequenced to date. The effects of such changes are uncertain, but the scientists try to predict them by considering the structure of the resulting proteins.
The results are revealed at a mini symposium dedicated to the recipient’s genome, where scientists explain the results, the process behind them, and their limitations. Knome’s first client, for example, found out that he was at increased risk for a particular disease that runs in his family. In this case, the finding didn’t affect his medical care–he was already being monitored for that condition by his physician. But Conde says that the company makes it clear that the information should not be viewed as a diagnostic or medical service. “If they choose to take medical action, they should only do so with the advice of a physician,” he says.
Clients can decide whether or not they want their data deposited in a public database accessible to genetic researchers. In what the research world might consider an ironic twist, Knome’s private service has generated a massive genomic resource: the company has likely accumulated the largest repository of whole-genome information in the world. Public projects to accumulate genome-wide databases, including the internationally funded 1,000 Genomes Project and Church’s Personal Genome Project, have focused early efforts on sequencing only the part of the genome that codes for proteins.