SAN DIEGO -- Genetics pioneer J. Craig Venter is preparing to sequence the genomes of as many as 50 people -- possibly including millionaires who pay for the privilege -- by the end of 2008. Within a decade, he hopes the number of sequenced genomes will reach 10,000.
Only two people -- Venter and James Watson, co-discoverer of the structure of DNA -- have had their DNA sequenced at the highest level of detail. Scientists say more sequencing will allow them to develop a better "reference genome" for the human race.
"This informs us of our propensity for disease and our individual choices in life. That's how far it can go," said Samuel Levy, a senior scientist with the J. Craig Venter Institute at the 19th annual Genomes, Medicine and the Environment Conference here Wednesday.
Venter -- who with his company Celera raced the National Institutes of Health to map the first human genome -- has made headlines twice in recent weeks. First he released a new "diploid" map of his own genome, looking at contributions from both parents instead of just one. Then came what some media outlets called his creation of a new life form.
The news about Venter's genome convinced about 200 people to volunteer to take part in the Venter Institute's genome-testing project. It's not clear if any of them will actually participate, because the institute wants its subjects to represent a range of gender, ethnicity and common diseases.
And if you're thinking about getting your own genome delivered to you on a hard drive -- like Watson did -- you need to stand by.
Some scientists predict personal genome testing may become generally available within five years, but Venter's group still expects tests to cost $300,000 each, said spokeswoman Heather Kowalski.
That's considerably more than the $10,000 benchmark in a $10 million contest that aims to quicken the pace and lower the cost of sequencing.
And, it seems, the institute is also interested in financial support from some of those who take part. That's where the millionaires come in, raising the touchy issue of pay-for-play. According to Levy, it's possible that the institute may develop a ratio of participants who pay to take part to those who don't, in order to guarantee that everyone not everyone has to shell out money to take part.
For the time being, scientists need to get a greater sense of whether lots of people are willing to volunteer to take part in genome research, said Harvard Medical School's George Church, leader of the Personal Genome Project. It aims to eventually read the genomes of 100,000 volunteers.
People who have their genome sequenced are not at direct medical risk if they only provide a sample of their DNA through a blood test. But ethicists have sketched a variety of unhappy scenarios that could face participants, including the creation of synthetic DNA that could frame them for crimes.
It's also possible that medical-insurance companies could get their hands on genome information that could reveal someone's chances of developing disease. Harvard's Church supports legislation that would prohibit some forms of discrimination based on a person's genetic makeup.
Many scientists, including Francis Collins, director of the National Human Genome Research Institute, have called for federal legislation to protect genetic privacy. A patchwork of state laws exist, and several versions of a federal privacy law have been passed by the U.S. Senate this decade, but failed to pass the House.
"It's going to be really difficult to make the progress that we want without letting people feel safe," said Karin Remington, director of the National Institutes for Health's Center for Bioinformatics and Computational Biology.
People, of course, can already undergo limited genetic tests that look at specific genes and provide information about the risk of getting various diseases. Indeed, testing has already revealed that Remington and other members of her family carry a chromosome defect that boosts the risk that their children will miscarry -- her mother alone had about 10 miscarriages.
It's not clear if genome sequencing will provide much more detail in terms of the full medical picture of a person being tested, at least at the moment. But it could eventually lead to a treatment to help unborn babies in her family survive, Remington said.
Levy predicted that genome sequencing will become so inexpensive that people could routinely have a test done once in their lifetimes, he said.
For now, those who want to take part in genomic sequencing should think about the existing genetic tests and the potentially troublesome results, he said. "If you're ready to hear them, you're ready to have your genome tested."
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