Genome Database Will Link Genes, Traits in Public View

He added: "We're all at risk for everything to some extent, and so we need to have a rich set of data and we need to be sharing that data until we get a much deeper understanding of what all the risk factors are, environmental and genetic."

In the Lab

In Church's lab at Harvard Medical School in Boston, a contraption resembling a front-loading washing machine sits on a table. The Polonator, which Church developed, can analyze DNA from eight tissue samples at a time, sending to a computer billions of combinations of A's, C's, T's and G's that denote a person's genetic makeup.

PGP will start by sequencing 1 percent, or 60 million base pairs, of each participant's DNA, the portion called the "exome," which codes for the proteins that make the body function. Eventually, Church would like to read out all 6 billion base pairs in an individual.

In another aisle of his lab, Xiaodi Wu, 20, a Harvard undergraduate, is working on his thesis project, a software tool that Church calls the "Traitomatic." Wu taps a few keys on his laptop, and a chart appears on the screen. A list of disease predispositions, ranked in order of severity, appears for James D. Watson, the Nobel laureate who co-discovered the double-helix structure of DNA. Watson, now 80, has gene variants that indicate an increased risk for prostate cancer and Graves' disease.

Watson is one of only a handful of people in the world who have had their genome sequenced and made public. But "just because a disease shows up on a list doesn't mean you'll get it," Wu cautioned. "The chance you'll get it as compared to the general population might be elevated by 1 percent or something minuscule like that."

Church particularly wants data from older people so he can see whether individuals who are predisposed to certain diseases actually developed them. In fact, Watson, who is chancellor emeritus at the Cold Spring Harbor Laboratory in Cold Spring Harbor, N.Y., has neither prostate cancer nor Graves' disease. While he said Church's effort is important, he said the privacy risks probably outweigh the benefits to be gained.

"In most cases, it's not going to change people's lives," he said.

But Joseph Thakuria, 39, a medical genetics staff physician at Massachusetts General Hospital in Boston, said the database offers promise for treating children with severe developmental problems. For instance, a child with autism may have a mutation in any of 200-odd genes linked to autism or developmental delay. Tracking how children with a specific autism gene respond to a particular therapy could help improve the treatment for others, he said.

Perhaps one of the most useful results will be exploring how gene variants interact, because the presence of one disease gene may be mitigated by the presence of another gene, Thakuria said. It may also help in family planning or identifying disease proclivities in a fetus "so parents can have the option to terminate or to prepare for the possibility of having a child with a disability," he said.

A Market Emerges

As PGP's database of genetic variants and their associated traits grows, direct-to-consumer genetic screening companies expect to draw on it to give their customers a fuller account of the secrets locked in their DNA. Church serves as a scientific adviser to three of them, as well as to seven companies that make genome sequencing machines. He says any fees he earns go into PGP.

One firm he advises is Knome, which he co-founded two years ago across the Charles River in Cambridge, Mass. For $350,000, Knome will sequence a client's entire genome, fly him to Boston from anywhere in the world -- some clients have flown in on their own jets -- and spend a day reviewing a customized analysis of common and rare conditions for which the client may be at risk.

PGP is likely to be "incredibly useful" to Knome, said Jorge Conde, the firm's president and chief executive. "They're going to find more associations, which means we're going to be able to provide our clients more information."