Reading Your Genes

You can have your genome scanned for about $1,000 or decoded for $350,000 to determine the risk of getting a raft of diseases.

By Daniel Q. Haney Bloomberg Markets March 2008

A familiar sensation overcame Louis Monier, a founder of search engine company AltaVista Co., the first time he perused a scan of his own genes. "I got the same feeling as I did when I first browsed the Internet," says Monier, whose company is now owned by Yahoo! Inc. "You could feel there was tremendous potential."

Monier; his wife, Evelyne Monjoin; and their three kids obtained readouts last year as testers for 23andMe Inc., a two-year-old company named for the 23 pairs of human chromosomes. The Mountain View, California-based firm tells customers how their risk for diseases such as diabetes compares with that of the general population.

Monier's results turned up nothing unusual except, to his surprise, a susceptibility to restless leg syndrome. Monjoin was fascinated to learn that, thanks to the genetic variations they share, she's related to Ötzi the Iceman, the 5,300-year-old mummy discovered frozen in the Alps in 1991. "To me, this is just the very beginning," Monier, 52, says.

Tests for specific genetic diseases such as cystic fibrosis have been available for several years. Now, thanks to advances in gene sequencing, those willing to send a saliva sample and about $1,000-$2,500 to one of three firms can learn about their risk for more than a dozen common diseases including Alzheimer's, breast cancer and rheumatoid arthritis. You might find that 0.11 of every 100 people of European descent in their 40s and 50s get Crohn's disease while only 0.04 of every 100 people with your genotype experience that disease of the gastrointestinal tract in that age range.

The services pinpoint variations in our genetic code known as single nucleotide polymorphisms, or SNPs. Our 20,000 or so genes are 99 percent identical. SNPs are the differences that make us unique. The average human has an estimated 10 million SNPs. Most result in no observable differences, so a major goal of genetics is figuring out which ones influence our physical and mental characteristics, especially our tendency to get illnesses. The firms test for 600,000-1 million SNPs and expect that the number will grow.

If that's not enough data about your genetic well-being, Knome Inc. will read your complete genome--all 6 billion bits--for $350,000. The Cambridge, Massachusetts-based company, founded in 2007 by Harvard Medical School geneticist George Church, checks for about 2,000 known inherited conditions, many of them rare. Until recently, only DNA co-discoverer James Watson and gene- mapping pioneer Craig Venter knew the code of their entire genomes.

Users of Knome's service will be encouraged to make their genomes available anonymously to science. "They want to know more about themselves and to contribute to collective knowledge, as long as they can protect their privacy," says Knome Chief Executive Officer Jorge Conde, who last year began recruiting the company's first 20 customers.

Genes are not destiny; how you live and take care of yourself is equally important. If your genetic profile puts you at a higher than usual risk for type 2 diabetes, you can reduce the odds by exercising and staying trim. Or if your profile shows an increased likelihood of glaucoma, you should be especially diligent about getting eye pressure tests, since early detection can prevent this disease. "This is a way to learn more about yourself to have a little bit more control of your life," says Kari Stefansson, CEO of DeCode Genetics Inc., a Reykjavik, Iceland-based service.

Still, deciphering genes is a dicey proposition since it might turn up risks you'd rather not know about. What good is knowing you have an elevated chance of Alzheimer's when there's nothing you can do about it? Also, common disorders like heart trouble are influenced by many genes, and scientists are just beginning to understand the consequences of various combinations. So an analysis based on a handful of SNPs is unlikely to offer a definitive calculation of total risk--just the hazard associated with the genes tested.

Another concern is privacy because employers might be tempted to withhold job offers and health insurers to deny coverage to those with unfortunate genetic disease profiles. "We're going to the nth degree to develop a very secure system," says 23andMe co-founder Linda Avey.

For some, the appeal of testing may have little to do with their medical fate. Genomics also offers glimpses into personal heritage since the more SNPs we have in common, the more closely related we are. Billionaire Warren Buffett and crooner Jimmy Buffett had long wondered whether they shared an ancestor, so they asked 23andMe to find out. A scan of their Y chromosomes revealed the answer: no relation.

Daniel Q. Haney is a freelance writer based in St. Petersburg, Florida. danqh@earthlink.net

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