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The Serious Business of Gene Tests

Two "me" companies—23andme and deCodeMe—introduce a new wave of direct-to-consumer genetics services hoping to cash in on telling you about your own DNA.

First in a series on personal genetics.

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Locked deep inside everyone are intimate secrets about health, behavior, and appearance—mysteries that until now have remained hidden since humans first appeared. Now, for about $1,000 anyone can find out online if he or she has a high or a low risk of diabetes or heart disease, or a gene for wet or dry earwax.

Do people want to know the DNA responsible for their hair and eye color, or information about where their distant ancestors came from?

Two of three high-profile gene-web companies plunged humanity into a new wave of direct-to-consumer genetics this weekend—at least, those humans who are "DNA-curious" and willing to shell out a cool grand.

On Friday, deCode Genetics of Iceland introduced "deCodeme", and on Saturday 23andme of Mountain View, California—funded in part by Google—rolled out Personal Genome Service. A third newbie company—Navigenics, backed by the mega-venture firm Kleiner, Perkins, Caufield and Byers—is coming soon. Online genetics pioneer DNA Direct is another major competitor. It has offered individual DNA tests for diseases since 2003.


For a detailed analysis of what's cool—and what's not—about these sites, see "Welcome to the Future" from the November issue of Condé Nast Portfolio.


The two sites I've seen so far look similar, but there is a difference. 23andme is a pure 2.0 software play, while deCodeMe comes from deCode Genetics, a publicly-traded, decade-old gene-discovery and drug company famous for using the Icelandic population to mine for genes associated with disease. In the last year, deCode has regularly made headlines around the world as they discovered genes associated with several common diseases such as diabetes and heart attack.

"When you compare us to other companies, we have discovered many of the genetic tests available," deCode C.E.O. Kari Stefansson said in a telephone interview from Reykjavik, Iceland. "We have an unrivaled competence in understanding and analyzing this data because we have been doing this for years."

"We recognize the great work that deCode has done," responds 23andme co-founder Linda Avey, "but no one person or company can claim to have ‘the real goods on genetic information'." Her company has assembled an advisory board that includes  experts such as Harvard geneticist George Church and Stanford bioengineer Russ Altman.

Navigenics falls somewhere in between. Its senior managers and advisors come from both the web world and biotech. They also plan to charge more at the moment, about $2,000 for healthcare information only.

The arrival of these genetics companies represents a fusion of the wild and wooly Web 2.0 and the stodgier world of genetics and health care. At first blush, the new websites look user friendly and even fun, with the company's offering customers rafts of information about themselves (after they send in a DNA sample in a spit container or on a cotton swab).

First is DNA that's purely fun, such as which band of hardy Homo sapiens you belong to that left mother Africa eons ago, or whether or not you have the "sprinter's gene" that makes you dash faster than those with a different variation of this gene.

The other category is far more serious. These are the nucleotide time-bombs hidden inside you that may change your life—genes associated with dread diseases. They may increase the risk of getting cancer, heart disease, Alzheimer's, or diabetes. This information is fraught with issues and pitfalls, not the least of which is that the science of genetics is very young and not entirely ready for the bold consumer lunge into consumerism.

Most of the "genes" these companies will test you for are actually gene markers that confer some risk that a person will contract a disease. Most of them have been collected by comparing a population of people with the disease to those who don't have the disease. That means that the information not necessarily relevant for you.

A person may test positive for a gene associated with colon cancer, but may also have five other genes that protect from this malady that are not picked up by 23andMe or deCodeMe. People may also contract the disease even when they lack the gene.

And what of people who discover their fathers are not really their fathers? Or that their parents' DNA combined to give them a gene associated with heart attack? What of people who may have given the breast cancer gene to their daughters?

Many physicians, geneticists and bio-ethicists believe that presenting a person's raw genetic information online with no interaction with a trained doctor or genetic counselor will confuse and scare some people.

They also point out that few standards exist to measure the validity and usefulness of some 15,000 genetic markers—including about 2,000 associated with disease.

The failure to provide such guidance and information lies squarely with the health care and research establishment, who have done little to organize themselves to handle the inevitability of a 23andme and deCodeme showing up to bypass them and go directly to consumers.

Doctors are untrained and hospitals and clinics have done little to integrate or understand these tests. No system exists that gauges the accuracy of genes that run the gamut from useful to highly speculative.

The government has left the space largely unregulated. Congress, the Food and Drug Administration, and the Federal Trade Commission have investigated some direct-to-consumer genetic tests, and have discussed the possibility of regulating the tests and the accuracy of the results.

At the moment, the sites are careful to say that they are not offering medical diagnosis or advice, though many customers will not understand the distinction.

Congress urgently needs to pass the Genetic Anti-Discrimination Act, passed by the House of Representatives earlier this year. President Bush has said he would sign it, but the bill is being held up by a single senator, Republican Tom Coburn of Oklahoma, a doctor who has placed a "hold" on a bill overwhelmingly supported by his colleagues.

The appearance of these new companies is ushering in yet another wave of Brave New World science that has the power to alter how we view ourselves, and perhaps our lives. It's an exciting moment that should be tempered with caution to be sure that this new information is accurate and delivered properly, but one thing is certain—the age of personal genomics is here, arriving like most technologies in fits and starts, but ultimately unstoppable.


Part 2 of this series will be published later this week as David Ewing Duncan runs his own DNA through the new websites and test-drives this Brave New world of genetic testing. 

 


 
 

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