It’s time for physicians, scientists, and regulators to write themselves a prescription for reality. After years of excited promises about the various medical miracles that would be wrought by the completion of the Human Genome Project, now we are told by some that delivery of our personal genomic information ought not to be among them, at least not yet. But it’s too late for that.

Does it matter if others can also have, in theory, access to this data?

The discovery that a type of genetic data that is widely shared and often posted online can be traced back to individuals has prompted the U.S. National Institutes of Health and the Wellcome Trust to strip some genetic data from their publicly accessible Web sites and NIH to recommend that other institutions do the same.

One study found that patients with a particular genetic mutation in their tumor were not helped by Erbitux at all. But the patients without the mutation — 55 percent to 65 percent of all patients — were helped enough that Erbitux might be able to win approval as an initial treatment for colorectal cancer. Indeed, European regulators are headed for such an approval, but only for patients without the mutation.

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The data on the genetic mutations is likely to make Erbitux a poster drug for so-called personalized medicine, in which treatments are tailored to patients. For an expensive drug like Erbitux, it would be especially important to avoid use in patients unlikely to be helped by the drug, doctors said.

In the study presented here, researchers reanalyzed a study in which Erbitux had been found to be modestly effective as an initial treatment for advanced colorectal cancer, reducing the risk of tumors worsening by 15 percent.

But for only those patients with the normal version of the gene, called KRAS, the drug reduced the risk of tumor progression by a much larger 32 percent. In patients with the mutated KRAS gene, the drug did not help at all.

While this could eventually lead to new uses of the drug, the initial impact could be to curtail existing uses of Erbitux for people with the mutated gene. Some studies discussed here suggest that Erbitux could actually harm those with the mutated gene.

There is also a journal called Personalized Medicine, member of the Future Medicine gateway. Interestingly, in the current issue, Steven AR Murphy has a plug for his Helix Health.

And in 2005 when Eddy Curry, then the center for the Chicago Bulls, refused a genetic test to learn if he was predisposed to a heart ailment, the team traded him to the New York Knicks.

Federal regulators are also concerned, says New York Times:

No federal agency even has a complete list of all the tests. The panel concluded that more than 1,100 genetic tests are currently available, although some geneticists put the number much higher. Current genetic tests may be useful to 2 percent of the population, the panel said, but that figure could grow to 60 percent with tests now being developed.

In the final draft of its report, the panel, known as the Secretary’s Advisory Committee on Genetics, Health and Society, also said that “there is currently no requirement that test providers disclose information to support claims about the accuracy and validity of testing,” and scientific evidence for the value of some widely used tests is sparse. The panel said that doctors and patients cannot be sure whether the tests will predict or diagnose a particular disease as promised because “the Food and Drug Administration is not currently assessing the clinical validity of most genetic tests.”

Now that the genome is out of the bottle, how will our wish for better health be granted? Just as the emergence of a commercial entity (Celera) with ambitions to sequence the human genome spurred public projects to accelerate their efforts, perhaps the emergence of commercial personalized genomic services will galvanize efforts to plan and conduct the necessary translational research for the rational integration of genomic information into medical training and practice.

In 2007, researchers came to appreciate the extent to which our genomes differ from person to person and the implications of this variation for deciphering the genetics of complex diseases and personal traits.

Personalized medicine will radically alter the health care landscape, bringing in new players, changing the power relationships of participants, altering old economic models, creating new economic models, and making informed consumers a major force.

The emergent understanding of the molecular basis of disease is transforming the practice of medicine. This knowledge explosion is producing a new generation of diagnostics and pharmaceuticals that are effecting changes in research, development and clinical trials. Blockbuster drugs have lost their luster, companion diagnostics are the wave of the future and presymptomatic therapies will be the new paradigm for prevention.

At the same time, informed and active consumers are taking charge of their own health care and wellness, paying for genomic and metabolic analyses, and taking action both inside and outside of the traditional health care system. Companies (both agile traditional players and new entrants) are moving to take advantage of the changing space.

What PGPers will get — we think:) — are our complete exomes, that is, the entire protein-coding portion of our 20,000+ genes*. This, I’m told (anybody have a reference?) works out to about 60 million base pairs or roughly 1% of the diploid human genome. George (who, it should be noted, co-founded Knome) has told us our exomes will cost…drum roll please…about $1000. Do I sometimes tell people I’m getting my genome sequenced? As a shorthand, yes, but I shouldn’t. It’s an exome, not a genome.