Health: Gene Genie

On June 26, 2000, then-President Bill Clinton stood in the East Room of the White House—where Thomas Jefferson and Meriwether Lewis had once examined the first map of the American frontier—and announced that "a map of even greater significance" had been completed: the first survey of the human genome. "Without a doubt, this is the most important, wondrous map ever produced by mankind," declared Clinton. Last June, just nine years after their White House unveiling, these 6-billion-letter personal maps became available to the public through a pioneering new service from a genetics-analysis company in California.

The sequencing process offered by Illumina—a San Diego–based operation that develops life-sciences technologies for biotechnology, pharmaceutical, and research organizations—charts an individual’s genetic code, providing access to a complex, comprehensive, and potentially beneficial body of information. Thus far, only about 10 people worldwide have undergone the procedure, with motivations ranging from ancestral research to disease discovery and prevention. The $48,000 process begins with a drop of blood—a DNA sample that Illumina procures from the client via a physician. Within about eight weeks, the physician receives an iMac computer preloaded with the client’s sequenced genome and software designed to explore that person’s genetic identity.

So much knowledge is not for everyone, concedes Illumina president and CEO Jay Flatley, who had his own genome sequenced last year. "It depends on how you think about these things," he explains. "When people ask me, ‘What if I discover something I don’t want to know?’ I tell them, ‘You shouldn’t do it if you have those kinds of concerns.’"

The benefits of knowing, however, can be myriad. Countless diseases (including diabetes, Alzheimer’s, and various cancers) are believed to have both genetic and environmental causes, and discovering one’s genetic predisposition may help stave off illness by encouraging lifestyle changes, diagnostic tests, and earlier treatment. Genetics can also play a role in how people react to certain drugs or therapies, so having one’s genome sequence might help doctors determine proper treatment methods. It may also provide valuable hereditary information for one’s children and future generations.

In the future, genome sequencing may become the norm. Flatley envisions a day when all individuals could be sequenced at birth and have what amounts to a genetic catalog that could help guide their health care. At present, however, most physicians are unable to interpret complex genomic data. And while Illumina’s service provides an ancestral history and fun facts about your genetic propensity (Do you have the sprinter gene? The fast caffeine-metabolizing trait?), it does not include medical analysis. Illumina partners with companies that can interpret the data for customers, with fees beginning at $200 for a basic report and rising to $20,000 for an analysis that includes a private roundtable discussion at the Harvard Club with a team of world-renowned geneticists.

When Flatley had his genome sequenced, his analysis came back with a surprise: a significant deletion on his chromosome 22. "Nobody knows yet what that deletion means," he says. "My wife thinks it must be the empathy gene."