Science spotlights our genetic differences

Alan Boyle Science editor • Profile • E-mail

Fresh insights into genetic variations that are opening the way to personalized medical treatments have won the journal Science’s recognition as the top scientific breakthrough of 2007.

Science's editors annually assess the past year's top research and rank the most significant breakthroughs in their year-end issue. Last year's top finding was the solution of the Poincare conjecture, a complex 100-year-old mathematical puzzle. Other breakthroughs from past years have focused on the evidence for ancient life on Mars, the detection of mysterious dark energy and revelations about human origins.

"For years, we've been hearing about how similar people are to one another and even to other apes," Robert Coontz, who managed the selection process as Science's deputy news editor for the physical sciences, said in Thursday's announcement of the top breakthroughs. "In 2007, advances on several fronts drove home for the first time how much DNA differs from person to person, too. It's a huge conceptual leap that will affect everything from how doctors treat diseases to how we see ourselvs and protect our privacy."

This year, an international scientific consortium released a detailed analysis of genetic differences in a geographic populations. Meanwhile, other studies have linked variants in more than 50 genes to increased risk for a dozen diseases, ranging from hypertension to autism. The findings raise hope for developing custom-made cures — but also raise questions about the potential for gene-based discrimination.

Also this year, scientists released the first complete genomes of publicly identified individuals, including that of J. Craig Venter, who helped spearhead the initial decoding of the human genome seven years ago. The original Human Genome Project sketched out the geography of our genes in general terms — but since then, scientists have found a surprising degree of difference between individual genetic codes.

"It totally changes our view of what’s out there, in the sense that we look like we're 1 to 2 percent different from each other instead of 0.1 percent," Venter told msnbc.com. "That’s a huge change."

The genome is certain to get more personal in the future: Genetic tests for family markers have been available for years at a price as low as $100. Some companies — such as 23andMe, Navigenetics and deCODE Genetics — offer more extensive gene-marker tests for $1,000 to $2,500. And Science notes that a new company called Knome is offering whole-genome sequencing for $350,000.

"The potential to discover what contributes to red hair, freckles, pudginess or a love of chocolate — let alone quantifying one's genetic risk for cancer, asthma or diabetes — is both exhilarating and terrifying," Science's editors write.

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