SPECIAL REPORT-Fast machines, genes and the future of medicine

Tue Mar 30, 2010 8:05am EDT

* Companies are beating down price of genetic sequencing

* Genomics is fast emerging as a weapon against cancer

* Several genomics companies appear set for prime time

By Maggie Fox, Julie Steenhuysen and Ben Hirschler

WASHINGTON/CHICAGO/LONDON, March 30 (Reuters ) - Francis Collins, who helped map the human genome, did not get around to having his own genes analyzed until last summer. And he was surprised by what he learned.

Collins has a predisposition for type-2 diabetes, something he had never suspected. The lanky, former director of the National Human Genome Research Institute (NHGRI) discovered this through tests offered by Navigenics, 23andMe and DecodeMe -- companies that charge customers a few hundred dollars for a peek at their genetic makeup.

"I signed up for all three because I wanted to see if they gave the same answer," he said. "They all agreed my diabetes risk is higher."

Armed with that information, he eventually lost 25 pounds. But as a rule, he doesn't consider such tests especially useful -- at least not yet. "Admittedly, right now your family history may be your best bet and it doesn't cost anything," he said.

And so it goes in the fledgling genome field.

Some experts say the world is on the cusp of a "golden age" of genomics, when a look at the DNA code will reveal your risk of cancer, diabetes or heart disease, and predict which drugs will work for you. Yet the $3 billion international Human Genome Project, whose first phase was completed a decade ago, has not led to a single blockbuster diagnosis or product.

To be sure, there have been some tantalizing glimpses:

-- A personalized blood test can tell whether a patient's cancer has spread or come back. Dr. Bert Vogelstein of Johns Hopkins University in Baltimore and colleagues found stretches of DNA in colon and breast tumors with extra DNA copies, or fused-together chromosomes.

-- A gene-based test called Oncotype DX made by Genomic Health Inc (GHDX.O) helps identify breast cancer patients who are not likely to benefit at all from chemotherapy.

-- Dr. James Lupski of the Baylor College of Medicine in Houston studied his own entire DNA map and sequenced the genomes of family members -- including his deceased grandfather -- to diagnose the mutation causing his rare genetic nerve disease, called Charcot-Marie-Tooth syndrome.

-- Genetic tests are now able to pick out poor responders to Plavix, or clopidogrel, a common life-saving anticlotting drug made by Sanofi-Aventis SA (SASY.PA) and Bristol-Myers Squibb Co (BMY.N).

Still, Collins describes this as low-hanging fruit. He says the hard work is only just beginning.

In a sense, the field is a victim of its own success. Companies are beating down the price of genetic sequencing, competing to make the machine that every biotech lab will have as standard equipment to sequence a person's entire genome on the spot. But all this genome sequencing is creating what current NHGRI director Dr. Eric Green calls a "tsunami of information" that is overloading the brains of scientists and the capacity of computers.

Paradoxically, this reflects the fact that people have relatively few actual genes, the stretches of DNA that instruct a cell to make a protein, or what Green refers to as "bricks and mortar." Humans have just 20,500 of them, compared with up to 30,000 for mice and 50,000 in rice. That was one of the big surprises from the Human Genome Project.

As a result, much of the most important information lies in what used to be called "junk DNA," which makes up two-thirds of the human genetic code.

"There is this dark matter of the genome that is lurking out there, waiting to be uncovered," says Collins.