More From Health & Science
Science News   | Environment Headlines    |    Health News   |   The Climate Agenda |    Live Web Q&As
Page 2 of 2   <      

Mom's Genes or Dad's? Map Can Tell.

Discussion Policy
Comments that include profanity or personal attacks or other inappropriate comments or material will be removed from the site. Additionally, entries that are unsigned or contain "signatures" by someone other than the actual author will be removed. Finally, we will take steps to block users who violate any of our posting standards, terms of use or privacy policies or any other policies governing this site. Please review the full rules governing commentaries and discussions. You are fully responsible for the content that you post.

Challenges remain. Although Venter's method produces a 6 billion-letter diploid genome, it does not produce complete paternal and maternal genomes of 3 billion letters each. But it does produce chunks of DNA that are hundreds of thousands of letters long, all from one parent or the other, allowing the most meaningful maternal-paternal comparisons yet. Previous such snippets topped out at about 13,000 letters, too few to be medically informative.

And unlike the Human Genome Project, whose focus on individual letters made it blind to many larger mutations or variations involving hundreds or thousands of letters, the newer methods that Venter used capture all sizes.

The new work showed, for example, that Venter lacks one parental copy of the gstm1 gene, known to have a role in neutralizing toxins and carcinogens -- perhaps helping to explain why he has had asthma and skin cancer, Levy said.

All told, 44 percent of the genes Venter received from one parent were at least a little different from those he inherited from his other parent, and a third of those variations had never been seen in studies of those genes in other people. Although most of the differences may have no discernible health effect, the finding indicates that humans are more genetically diverse than was thought.

Specifically, older analyses suggested that humans' genetic codes are, on average, 99.9 percent identical (or 0.1 percent different), while the new estimate comes in at 99.5 percent (or 0.5 percent different). The true number may be as low as 99 percent, Venter said.

That means each person is the product of more genetic diversity -- and more biological negotiation and compromise during fetal development -- than was believed.

Venter is not alone in his effort to create personalized sequences, and at least one competitor offered a more tempered view of the work.

"I would call this a small, quantitative milestone," said George Church, a Harvard University professor of genetics who is also racing to produce cheap genomes.

He said Venter's sequence, like previous ones, still has many gaps, was cumbersome to make and, at a cost of tens of millions of dollars, was still way too expensive.

He also noted that recent research by Scherer had already suggested that human genetic variability is probably at least 0.3 percent, not the 0.1 percent floated in 2001, which Venter uses for comparison. So Venter's new finding of 0.5 percent amounts to something less than a sea change, Church said.

But Church sings with Venter's choir on the vast benefits that could come from inexpensive personalized genome sequencing.

Cost trends are encouraging. The first 3 billion-letter genome sequences took more than a decade to complete and cost billions of dollars. During Venter's latest project, costs dropped precipitously, and today, several scientists said, an entire diploid genome could probably be done for about $100,000. Some predict that a $1,000 genome will be available within five years.

Venter and others hope that at that point many people will get sequenced and, as Venter has already done with his own, will post their genomes on public databases along with their medical information and family history. That will allow computers to start drawing connections between gene patterns and diseases.

Given the risks involved in such personal revelations, including job discrimination and health insurance woes, no one knows how many people will take that route.

"It's going to be a very interesting social experiment to see the way people go," said Scherer, who has predicted that before long, parents of newborns will leave the hospital with a six-gigabyte computer file of their screaming bundle's genome loaded on their BlackBerrys. He said that people's fascination with technology -- and with themselves -- will prevail.

Among the ethics questions raised by the prospect of people posting their genomes is whether they have an obligation to kin who may not want their familial patterns put on display.

Asked if he had consulted his living parent, his three siblings or his 30-year-old son before posting his genome, Venter said: "I've not asked any of their permission, but we've discussed it all extensively. Their main response is not "Oh, my God.' It's 'Can I get my genome done, too?' "


<       2


© 2007 The Washington Post Company