genomeboy.com

Genetic Future has everything you need to know about 23andMe’s foray into genetic research on ten common diseases. Here are what I consider to be the nut grafs:

It’s easy to be cynical about 23andMe’s motives in launching this initiative - this is, after all, a profit-making exercise rather than a research charity - but I suspect that many academics will be watching 23andMe’s progress in this venture with considerable interest. Modern genomics studies require mind-bogglingly large numbers of samples to achieve the power required to find subtle genetic associations, and recruiting those numbers of patients is far from easy. If 23andMe’s model proves successful in recruiting and maintaining large communities of patients, I suspect large academic consortia will at least begin to consider the possibility of pursuing similar approaches.

That actually puts 23andMe in a potentially lucrative position. In order for academic consortia to pursue the 23andMe model, they need to be in a position to return comprehensive results from genome scans to their patients and controls. However, providing such complex information to a lay audience is extremely difficult, and probably beyond the means of most academic groups. That means (as I noted back in March) there’s a potentially massive possible market for 23andMe here in providing a mediation service for returning research data to patients, and for providing the resources required to keep participants engaged actively in the research community.

Ever since 23andMe began shouting from the rooftops that it wanted to do research, there has been more than a little suspicion about what the company was “really” up to. I think Daniel is absolutely right: in the simplest terms, the company believes that there is an unmet need in genetic research (subject ascertainment, data collection, return of results to subjects) that it can begin to help satisfy and in doing so it will generate revenue. Some might argue that there are already perfectly fine mechanisms for informed consent and human subjects research in genetics. GWAS are great! The status quo rocks!

Others, ahem, have a different view.

I’m not always the biggest Gina Kolata fan, but her piece in this morning’s New York Times is a must-read:

Yet the fight against cancer is going slower than most had hoped, with only small changes in the death rate in the almost 40 years since it began.

One major impediment, scientists agree, is the grant system itself. It has become a sort of jobs program, a way to keep research laboratories going year after year with the understanding that the focus will be on small projects unlikely to take significant steps toward curing cancer.

“These grants are not silly, but they are only likely to produce incremental progress,” said Dr. Robert C. Young, chancellor at Fox Chase Cancer Center in Philadelphia and chairman of the Board of Scientific Advisors, an independent group that makes recommendations to the cancer institute.

“My concern is that [these tests] are being marketed to the public as if there is no question about it,” says Merikangas, speaking generally about direct-to-consumer genomic tests that purport to offer people any truly predictive health advice. “Some people might understand that it is not a death sentence to them, but to others who are struggling, it could lead them not to have children or get married.”

Oy vey. 

The editor-in-chief of a journal is to resign after claiming that the publisher, Bentham Science Publishing, accepted a hoax article for publication without his knowledge.The fake, computer-generated manuscript was submitted to The Open Information Science Journal by Philip Davis, a graduate student in communication sciences at Cornell University in Ithaca, New York, and Kent Anderson, executive director of international business and product development at The New England Journal of Medicine. They produced the paper using software that generates grammatically correct but nonsensical text, and submitted the manuscript under pseudonyms in late January.

Well, now I know what I want for my birthday.

…The book also reveals that, during spring training in 1999, team doctors revealed to owner George Steinbrenner that Torre had prostate cancer - even before informing the manager himself.

“There is absolutely no question,” he said, “that for the whole hope of personalized medicine, the news has been just about as bleak as it could be.”

The New York Times has a feature on population genomicist David Goldstein  that is well worth your time. David, I should say, is a friend and colleague. He’s not always the warmest and fuzziest guy in the world, and his worldview tends to be closely aligned with Eeyore’s. But he is funny, charismatic, engaging and one of the most brilliant people I’ve ever met. He’s right a lot more often than he’s wrong. I had the pleasure of doing some editing on his book, Jacob’s Legacy, which I heartily and objectively recommend (heh).

Mackenzie Cowell (left) and Jason Bobe are trying to create simple, at-home methods for doing sophisticated biology. (Dina Rudick/Globe Staff) 

The clash between the potential benefits and dangers of doing home science were highlighted by the case of Victor Deeb. The retired 71-year-old chemist in Marlborough saw his basement lab dismantled by authorities this summer after it was noticed by fire officials putting out a second-floor air conditioner fire.

The state DEP said officials intervened in Deeb’s workspace because it did not meet lab standards. Chemical companies shipping Deeb their materials were unaware that they were shipping to a residence, authorities said.

Deeb, who said he was trying to make safer surface coatings for food containers, insists that the chemicals he was using were less hazardous than common cleaners and household chemicals. He questions why his hobby was seen as more dangerous than, for example, a hunter with a gun collection, or a person using a propane grill.

“The more I tried to explain, the more they thought I was a lunatic,” Deeb said, questioning why he should need permits to tinker in his basement.

One wonders if maybe we couldn’t use a few more lunatics.

The revolution continues…

Dr. Tenenbaum says patients can get started on a project with as little as $50,000 to $100,000. Sums like that, for example, could fund the creation of a molecular profile of a tumor to try to predict what combination of already approved drugs might be effective. If results proved promising, more money could be raised to set up a full-blown virtual biotech — with a budget in the millions of dollars — that might test cocktails of therapies in animal models and try grouping patients into subtypes to better tailor treatments for them, among other projects.

As usual, Daniel has an outstanding roundup of the latest developments in the personal genomics kerfuffle (or is it a saga?). If Navigenics wins its argument in California — i.e., interpreting a test is not itself a test and therefore not subject to regulation as such — then will we finally be able to move on to the next existential crisis?

In the immortal words of Woody Allen, “I’d call you a sadistic sodomistic necrophile, but that’s beating a dead horse.”