Thursday, December 06, 2007

Your Personal Genome

George Church wants to sequence your genome.

By Emily Singer

Credit: Photo by Graham Ramsay

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.