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In a few years, knowing your own personal genome may improve your health

WASHINGTON—How would you like to get your own personal genome—a collection of all the genes you inherited from your father and mother, which make you who you are?

Such a scientific tool could help you and your doctors learn which diseases you're especially susceptible to and figure out how to avoid or prevent them.

The technology to accomplish that feat at a reasonable cost may be possible in the coming decade, thanks to the Personal Genome Project, which is getting under way at Harvard Medical School in Boston.

The PGP is an offshoot of the Human Genome Project, the massive government effort to read and put in proper sequence all 3 billion bits of human DNA. The project was completed in 2003 at about $3 billion—about $1 for each of the tiny chemical units, called bases, that make up the human genome.

Since then, better technology and greater efficiency have brought down the cost to $10 million—less than a penny per base—for a complete DNA sequence, according to Jeffery Schloss, the director of technology development at the National Human Genome Research Institute, a federal agency in Bethesda, Md.

The institute is financing a campaign to cut the cost of sequencing a genome to $10,000 by 2009 and drive it all the way down to $1,000 by 2014. An affordable $1,000 genome is biology's next dream.

A number of laboratories are working on low-cost DNA-sequencing technology projects, but the Harvard group is the first to set a goal to make personal genomes possible for individuals within the next 10 years.

The privately financed project is the brainchild of George Church, 50, a leading genome expert at Harvard Medical School.

"The goal is to reduce costs to the point at which the genomes of individual humans could be sequenced as part of routine health care," Church wrote in the journal Nature Reviews/Genetics.

So far Church is working to sequence the genome of only one person: himself. He has two other volunteers ready to go in March. "About 50 have volunteered for the next round," he said in an e-mail message.

Church predicted that a "tipping point" will be reached in the next two or three years when people recognize that the benefits of the project outweigh the costs, and it will grow and gain momentum.

"Eventually PGP may require millions of volunteers," he said.

Under Church's plan, individual genomes, along with the names and photographs of the donors, will be placed in a public government database, where scientists and anyone else can see them. He acknowledged that such extraordinary openness carries risks as well as benefits.

"The prospect of this new type of personal information suddenly becoming widely available prompts worries about how it might be misused—by insurers, employers, friends, neighbors, commercial interests or criminals," he acknowledged in the current issue of Scientific American.

Among the risks are exposing genetic flaws that could affect a person's ability to get insurance or hold a job. A sequence might reveal a disease that lacks a current cure, a devastating finding for anyone. A curious or hostile person might uncover an individual's hidden racial background.

Church even speculated that someone with sufficient knowledge could use the data to "make synthetic DNA corresponding to the volunteer and plant it at a crime scene."

To meet these fears, the project gives volunteers the option of keeping their data private.

Church said the advantages of knowing a personal genome outweighed the drawbacks. He noted that personal genetic tests already are being used to determine the best kinds of drugs to use for breast or lung cancer.

Gene testing is "expanding rapidly to include personalized nutrition and lifestyle decisions," he said.

After Church put his own genetic information in a public database, for example, a heart doctor on the West Coast saw it and warned him that he was overdue for a test of his cholesterol medication. "The tip led to a change in my dose and diet and consequently to a dramatic lowering of at least one type of risk," he said.

To launch his project, Church spent more than a year seeking approval from a panel of experts convened by Harvard Medical School. He had to promise, for example, to report any "positive or negative events" affecting the volunteers or their close relatives, such as misuse of their DNA data.

"Like all human research subjects, participants must be informed of potential risks before consenting to provide their data," Church said. "These initial participants are heroes and human guinea pigs paving the way for potentially increasing utility for the general public."

The director of the National Human Genome Research Institute, Dr. Francis Collins, said he thought that most people would be glad to have their DNA made available to their doctors, but not to outsiders.

"The general public is not ready for that," Collins said. "You can get the medical benefits without requiring very open disclosure."

The genome institute hasn't endorsed Church's project, but it's contributing a small amount of money to support his research into the ethical and legal risks of putting individuals' DNA on the Web.

"It's a good opportunity to learn something as a research project with volunteers who understand the risk and consent to it," Collins said.

Church likened the beginning phase of his ambitious project to the introduction of "revolutionary new tools" such as personal computers or the Web.

"We hope to explore possible rewards and risks of personal genomics by recruiting volunteers to make their own genome data openly available," he said. "No one can predict what living in an era of personal genomics will be like until the waters are tested."

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For information on the Personal Genome Project, go to http://arep.med.harvard.edu/PGP

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(c) 2006, Knight Ridder/Tribune Information Services.

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