Your Personal Genome

George Church wants to sequence your genome.

A new wave of products targeting the blossoming personal-genomics industry has recently become available. The first commercial whole-genome sequencing service was launched last week by startup Knome, based in Cambridge, MA. (See “Get Your Genome Sequenced for $350,000.”) Three other companies–deCode Genomics, based in Iceland; and the much-hyped startups 23andMe and Navigenics, both based in California–recently announced consumer services for genome-wide DNA analysis. While the technologies and business strategies of the companies vary, they all aim to give consumers a picture of their genetic risk for disease.

George Church, a Harvard geneticist and pioneer in developing the gene-sequencing technology that has enabled this new industry, is involved on both the public and private side of personal genomics. He is spearheading the Personal Genome Project, a nonprofit effort to make both the DNA sequence and the health records of many individuals publicly available. The project, which is now recruiting 100,000 people to have parts of their genomes sequenced, aims to serve as a test bed for technological, security, and ethical issues that might arise with the growing personal-genomics field. Church is also a cofounder of Knome, and he sits on the science advisory board of both Knome and 23andMe.

Earlier this week, Church spoke with Technology Review about the future of personal genomics.

Technology Review: Why did you decide to found Knome?

George Church: I occasionally received inquiries about sequencing whole personal genomes for wealthy individuals or families not interested in sharing their data for research purposes. I felt that this could distract my Harvard lab from our academic mission–and it seemed like a textbook case for a company to take this off of our hands.

I also think that in the early days, it’s important for people like me to be involved because the personal-genomics industry could go in various ways. A company could promise more interpretation value than they can deliver, or obfuscate predictability or the fraction of diseases that are explainable or predictable. They could underestimate security and privacy issues, or they could plan to resell personal data without being clear to the customers. I want to help prevent such blind spots or miscalculations.

TR: In addition to Knome’s new sequencing services, three other companies have announced genome-wide, consumer genetic testing. Are they on the right track?

GC: My feeling is that the four companies that have announced are not overpromising, and that they’ve worked hard to get the nuances across clearly to a broad audience.

TR: You’re also involved in a public effort–the Personal Genome Project. What progress have you made since you first announced the project two years ago? (See “The Personal Genome Project.”)

GC: We have enrolled all 10 participants–their names are listed on the Wikipedia entry. We have generated cell lines from all 10 participants and have started some genotyping and sequencing. Their trait data will be available to them soon and then published more broadly if they choose–they can look it over and select what they want to redact.

TR: How do you collect phenotypic data? From the participants’ medical records?

GC: We’ve found that medical records are not that useful for doing correlations yet–they’re just not well-standardized. The main resource is a set of questionnaires we’re producing. They’ll collect the kind of data a doctor would want to know about a patient–a comprehensive portrait of their medical history.

TR: What’s next for the Personal Genome Project?

GC: We’re in the process of revamping the whole process so we can handle a larger number of people. We hope to move aggressively in the next few months and start recruiting 100,000 people for the next phase of the project. Educational materials will be on our website soon. There will be a phenotypic-trait questionnaire to look over to help people decide if they want to participate, as well as an entrance exam.

TR: Is the entrance exam hard?

GC: It tests basic knowledge of genetics and tries to make sure that people know what they’re signing up for. For example, it tests understanding of the possibility of reidentification in any human genetics research; the [Personal Genome Project] informed-consent components, such as risks, benefits, and protocols; and likely subject and family reactions to alarming news like cancer risk, including possible false positives.

TR: The other companies offering personal-genomics services don’t require a screening process. It that concerning?

GC: I’m requesting that companies do that. I think before you get that information for yourself, you need to visualize the possible outcomes.

TR: You also announced this week your plans to throw your hat into the ring for the Archon X Prize for Genomics, a competition to sequence 100 genomes in 10 days for less than $10,000 each. Why?

GC:I hope this will raise consciousness about personal genomics. It’s one of the many different ways we’re trying to see what engages the public.

I also hope it will help fund the Personal Genome Project. The goals for both are completely aligned. We have to build the infrastructure to sequence 100 genomes in 10 days–once it’s built, we can use that infrastructure to sequence other genomes.

TR: When do you expect to be ready?

GC: I’m hoping to be in a position to do a practice run by the end of 2008.

TR: Who will you sequence?

GC: For the practice run, we’ll use donors from the Personal Genome Project–it would be a waste not to. For the official competition, the X Prize Foundation provides anonymous samples. In truth, I’m a little disappointed that the X Prize isn’t using nonanonymous donors. That means we won’t have any phenotypic data–no information on traits or environment. We’re spending increasing amounts of money on projects where we’re missing these critical components.

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