Mapping out a nascent market

Will consumers pay for insight into their DNA?

One of the first clients of Knome Inc. will visit the company's Cambridge headquarters Thursday to hear a presentation. After having sequenced the client's entire genome - essentially decoding his DNA - Knome employees will offer the client "a guided tour" of areas of concern, where genetic variations might indicate a higher propensity to develop a condition like Huntington's disease, colon cancer, or heart disease.

The price for this customized genomic tea leaf reading: $350,000.

"We don't want to attract clients who expect magic, crystal ball-type answers," says chief executive Jorge Conde. "DNA can provide useful information, but it's by no means predestination."

These are the rip-roaring Wild West days for companies peddling genomic information to consumers, offering insights about the twisted nucleic acids that make us who we are - and also those trying to bring down the cost of sequencing an entire genome.

Some believe the large-scale gathering of genetic information will remake the way healthcare is practiced and shift its focus from treating disease and chronic conditions to staving them off. Others, such as genetics researcher David Altshuler of the Broad Institute, liken it, at least in the near-term, to the recent rage in whole-body CT scanning for healthy people. Genomic analysis may identify potential problems that don't ever become real maladies, but generate all sorts of unnecessary diagnostic tests and procedures.

"The key missing ingredient today is the ability to interpret the genetic information and go from that to recommendations about what to do," Altshuler says.

Knome, founded by Harvard genetics professor George Church, is on track to sequence the genomes of about 20 people this year. DNA from a blood sample is extracted and purified, then run through a sequencing machine that uses light from a laser to identify each base, or letter, of the DNA.

"People assume it's hypochondriacs coming to us," says Conde. "It isn't. It's people who are technophiles and inherently curious about themselves, and about science."

They come from all over the world - though none yet from the Boston area. Even after paying the high price, Conde says that some clients have asked not to be told if their DNA may indicate a higher-than-normal likelihood of developing degenerative neurological conditions like Alzheimer's, for which there's no good treatment.

Joining Knome in marketing genetic analysis to consumers are two California companies, 23andMe Inc. and Navigenics Inc., and an Icelandic company, deCode Genetics. (DeCode received some of its earliest funding from Polaris Venture Partners, a Waltham venture capital firm.) All three offer tests priced from $1,000 to $2,500, focusing on genetic variations that might point to a higher risk of heart attack, type 2 diabetes, breast cancer, or multiple sclerosis.

Unlike the Knome service, which unravels the complete genome, these other companies rely on so-called "gene chips" to analyze regions of the DNA scientists have honed in on as significant in the development of diseases. But Conde contends that having access to your complete genetic code could be as important as new research identifies other parts of the DNA that may be linked to disease.

Muddying the waters are recent cease-and-desist letters sent to all of the companies peddling personal genomic information by California's Department of Health Services. The state asked the companies to stop taking clients until they can prove that they comply with regulations governing clinical labs; Conde says Knome is now in the clear.

Hoping to support the surge in activity around personal genetic analysis are companies like Helicos BioSciences, a publicly traded Cambridge company that makes $1.3 million machines for sequencing DNA, and Genome Corp., a small start-up in Providence that plans to set up a large-scale sequencing facility, which could bring down the costs of deciphering DNA strands in much the same way Henry Ford brought down the cost of making cars.

"Ten years from now, the complete sequencing of the human genome will be routine," says Helicos chief executive Stan Lapidus. "It will be information that's available to a physician, like your blood pressure and your temperature."

Harvard researchers are already at work examining Lapidus's DNA, along with that of nine other volunteers, as part of George Church's Personal Genome Project. With the volunteers' assent, the results will be made public to researchers.

Lapidus and Harvard professor Raju Kucherlapati share the expectation that genomic information may eventually help doctors prescribe medications that work well for an individual, and avoid those that only spark side effects. "Eighty percent of drugs are metabolized in different ways by different people," Kucherlapati says. Lapidus believes the ability to diagnose the specific type of disease afflicting a patient will eventually supply the bulk of business to DNA sequencing companies like his, which has yet to turn a profit.

But one of Helicos's board members is convinced selling picks and shovels to the genomic gold-miners will be the winning strategy. "Helicos is the Intel chip to what all sorts of other people are doing," says Noubar Afeyan, managing partner at Cambridge's Flagship Ventures. "Everyone is developing applications for genetic analysis that depend on faster machines and cheaper costs."

But while Afeyan was an early investor in Helicos, he hasn't invested in companies that peddle genetic information to consumers. "I think that the business model for those kinds of companies is something people haven't yet figured out," he says. "I'm a little reminded of some of the Internet companies of 10 years ago."

Even Ulmer, whose DNA-reading factory might one day serve companies like Knome, likens the company's $350,000 analysis service to "the sort of thing you'd see in the Neiman Marcus Christmas catalog. It's going to take time before you can really mine an individual's genome for useful information."

The Knome service requires four to six months, Conde says; sequencing is done by a lab in Beijing.

When I asked Kucherlapati if he would pay to have Knome sequence his entire genome if he had $350,000 lying around, he said, "I'd consider it." He's already taken Navigenics up on an offer to analyze his DNA at no charge, providing the company with a saliva sample. The test, he says, "confirmed things that I suspected would be there, since I have a family history of cardiovascular disease." Kucherlapati says he's exercising more regularly, adding, "I don't go to Smith & Wollensky any more."

Altshuler, the genetic researcher, says he was offered the same test for free - and he said no. Altshuler says the health advantages of knowing one's genetic make-up simply haven't yet been established.

"These companies can make money because of the presumption that the public has that the brave new world of genomics is filled with this incredible information for you," he says. But Altshuler says his research shows that asking people about their family history of diabetes, their weight, and age is a far better predictor of whether they will one day develop diabetes than reading their DNA.

Most people I spoke with believe the ability to read an individual's genome will eventually become an important tool - but that it will play out over the next decade or two. As with nearly everything dependent on technology, costs will come down.

So unless there's $350,000 burning a hole in your pocket, it probably makes sense to wait a few years to find out what's written in your DNA.

Scott Kirsner can be reached at kirsner@pobox.com.