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NNB report: Ten years later, Harvard assesses the genome map

Ten years after scientists completed the map of the human genome, the benefits have been clear for science and, up to now, less clear for humans.

That was gist of the conversation at Tuesday’s Harvard panel on" Mapping the Human Genome: Ten Years After."

Harvard president Drew Gilpin Faust, who moderated the panel in the 136-year-old Sanders Theatre, said the impact of the research — published in Nature in 2001 – has been transformative. Then, she posed a question to the panelists led by Eric Lander of Broad Institute: "How are we all– and the kind of work we do and the kind of lives we lead – different that they otherwise would have been?"

Panelists — including Lander, who led the government’s genome mapping effort and U.S. Food and Drug Administration commissioner Margaret Hamburg – agreed said that expectations for the scientific effort were unrealistic.

“The promise of the genome brought with it a great deal of public excitement about the transformation that was going to occur in the pharmaceutical business as a consequence” said Vicki Sato, former president of Vertex Pharmaceuticals, now a business and biology professor at Harvard. She said patients, scientists and drug makers were “beset” with the image of a magic bullet.

“Ha, we’ll complete the genome and the next day say – there’s the gene for cancer and… there the gene for Type 2 diabetes… and now the drug companies can get to work …, "she said.

And while that had not been the case, she notes that genomic research “has changed the way we think about making medicine.” Doctors are able to better match patients to effective treatments and test for mutations. Researchers are able link drug action to disease in lab animals and create “genomically informed” medicine and diagnostics, she said.

“The ability to use genetics to differentiate between people who respond well and people who won’t respond is already affecting treatment and raising some very important issues about changing treatment dynamics,” she said, adding …"because, of course, the science isn’t absolute. "

M. Susan Lindee, a history and sociology professor from the University of Pennsylvania, said the genome project has had a “massive impact” on health care – “a mixed one.”

For example, after the genes for cystic fibrosis were discovered in 1989, it became “the first disease for which rapid and effective gene therapy was expected, promoted, and heavily financed,” she said. But, gene therapy for CF — a disabling disease that impairs the lungs and lead to premature death —never emerged.

The finding did have an impact, she said. After doctors started routinely screening for a mutation commonly association with cystic fibrosis in 2002, the number of babies born with the defect dropped by 50 percent

And while some argue that potential parents should know that their children may be born with the genetic defect, studies now show “extreme variation in overall survival and health” among those with the gene, she said.

“What we have on the ground is a very complicated—I could call it a machine or system — that is generating information that is very difficult for individuals to assess and to interpre,” Lindee said.

As a result, people who take the test have to make decisions in a “climate that is not nearly as solid and reliable as some accounts might make it seem.”

Lander blamed the press for unrealistically high expectations for the human genome.

Lander was the first author on the 2001 Nature paper reporting on the completion of the genome map. That paper concluded that “The scientific work will have profound long-term consequences for medicine, leading to the elucidation of the underlying molecular mechanisms of disease and thereby facilitating the design in many cases of rational diagnostics and therapeutics targeted at those mechanisms.”

Still, Lander said that expectations for the impact of the research were “fabulously naïve. Journalists wrote about how we were going to have drugs for all these disease in the next decade. Somebody was smoking something. This was just nuts.”

At the same time, , he said genomic research has “gone so much faster than I would have imagined.” He cited " an explosion of work that will culminate, I think in the next five years, in a pretty comprehensive list of all the target that lead to different kinds of cancers and give us a kind of roadmap for finding the Achilles heel of cancers for therapeutics and diagnostics."

Hamburg said that the FDA is also “traversing new ground” in genomics and will be required to assess new treatments and diagnostics with “a lot of promise.” Still, she expressed caution about genetic testing.

“We need to ensure that these tests are analytically and clinically valid, that they detect the right biological targets and that the proper use of those tests in the clinical setting and the indication for the resulting treatments and interventions are fully validated,” she said.

Or as Lindee put it: “Genomics, or genes, are not exactly the same as health. If genes are complex, intricate and bizarre … so is health.”

Here’s Harvard’s in-house report usa today genome harvard

on the event. USA Today streamed the event live.


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