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Walgreens puts the kibosh on Pathway Genomics, at least for the moment. Genomics Law Report has details and analysis.

If I were Pathway, I would take this opportunity to look in the mirror. Whether it was a factor in the FDA’s sudden interest in the company or not, there seems to be a paucity of information on Pathway’s website. There is a list of conditions that Pathway tests for, but there are no details and the list is “current” as of October 20, 2009. In clinical genomics, that’s a long time ago.

More troubling, I think, is the lack of specifics about exactly what’s included in Pathway’s tests. 23andMe, for example, has been completely upfront about what alleles are being screened for in its services. Without giving up my credit card or logging in, I can learn that for cystic fibrosis, the company screens for 31 mutations and that for Caucasians, these variants cover 85-97% of all known mutations; for African Americans, Hispanics and Asians it’s more like 50-75%. Thus, before I’ve spent a red cent, I can know that 1) this test will not get me completely off the hook and 2) my ancestry can have significant bearing on my risk.

My point is, if you want to be taken seriously, not only by the FDA but by docs and, oh yeah, by your customers, then don’t insult us. Give us the technical data, explain what fraction of our risk can be attributed to genes insofar as is known, link out to the primary references, and when the science changes, don’t wait six months to change your website. Indeed, you might want to do it before you launch your national retail marketing campaign.

As I’ve tried to make clear below, I’ve got no problem with genetics in the drugstore. But it’d be nice to know exactly what’s inside the box.

I am reading the coverage of the Walgreens genetic testing story and scratching my head, wondering where the freak-out comes from. “OMG, it’s IN THE DRUGSTORE.”

Yes, people will have access to their genetic information without help from a man in a white coat (assuming, of course, that they don’t want that help). But the fact of the matter is, except in New York, they already have this access: they can order a spit kit from any of dozens of companies and send it along with their credit card number to a lab to be analyzed. The only substantive difference in this case is that instead of going online, they go to the drugstore and possibly burn a few calories in the process. Customers still have to pay for the analysis and the kits must still travel through the mail. The analysis is still accessed by customers on the web. So, when Pathway Genomics says it is “revolutionizing the way people access information about their genetics,” I say, “Um, not really.”

My hope is that this is not taking place in a vacuum. I think genetics education is extremely important and I hope the folks at Pathway Genomics are providing their customers with answers to their questions, access to genetic counselors and that they are specifying exactly what it is customers are and are not getting and what it does and does not mean. But I see the panicked response to this from doctors and academics as elitist: it assumes that the ordinary person is stupid and/or not entitled to his or her genetic information without a third-party “expert.” Let’s be real: that ship sailed in 2007.

For the record, I have no conflict of interest, financial or otherwise, and have never spoken to anyone at Pathway Genomics.

“So, Mr. Public Genome, why aren’t you on Facebook already?”

“Oh, I don’t know. Just because.”

Here is a Human Being: At the Dawn of Personal Genomics will be published this fall by HarperCollins. The book is part memoir, part science geek fest, and part journalism. It traces the emergence of a once-radical notion that has, in a just a few short years, become entrenched: the idea that nearly anyone can get access to his or her own DNA sequence for any reason at all. It gives an inside account of the Personal Genome Project, Harvard geneticist and visionary George Church’s ambitious plan to sequence many genomes and make them public. It tells the human stories behind the technology that has enabled personal genomics, the companies seeking to sell you your genetic information, the do-it-yourselfers trying to track down genetic answers about themselves and their families, and the conflicted doctors and scientists who find themselves less than completely prepared for the genomic age. I also tell my own story: a trained human geneticist and genetic counselor eager (perhaps too eager) to experience the life of a research subject and begin to understand what this information means for me, for my family…for all of us.

I’m working on a page for the book, which so far looks…exactly like this. If there is a deeply remedial technical school for WordPress, then I am a promising candidate.

Dan Vorhaus has written his usual cogent and insightful review of the issues raised by Amy Harmon’s piece on the Havasupai tribe and its settlement with Arizona State University. In my view, the core of the matter is fairly simple:

“I’m not against scientific research,” said Carletta Tilousi, 39, a member of the Havasupai tribal council. “I just want it to be done right. They used our blood for all these studies, people got degrees and grants, and they never asked our permission.” [emphasis added]

If, as researchers, we can’t be bothered to 1) tell research participants what they’re getting into insofar as we know; 2) respect their cultural beliefs; 3) go back to them if our plans change and ask for their consent again; and 4) share with them what we find and what we think it means in a timely and ongoing fashion, then we will find human subjects increasingly hard to come by…and increasingly litigious.

The New York Times:

Twenty-one college football players have collapsed and died as a result of training over the past decade. At least eight were carriers of the sickle-cell trait, a genetic disorder that can unpredictably turn deadly during rigorous exercise.

***

Dr. M. A. Bender, the director of the Odessa Brown Comprehensive Sickle Cell Clinic in Seattle, said scant research had been done on the connection between exercise and the sickle-cell trait.

“There isn’t the data in terms of how often it occurs, what the real risk is, and what underlying factors may be involved,” he said.

***

Many researchers say the best solution is to use training practices that protect everyone from the risks associated with overexertion. One model is the Army, which no longer screens for the trait but takes across-the-board precautions. Since the change in practices, studies have shown, soldiers with the trait have no higher risk of dying in basic training than those without.

• Carrier status matters, even beyond making reproductive decisions. Whether screening has been demonstrated to save lives or not, wouldn’t you want to know if vigorous exercise made you more apt to keel over and die than most other people?
• Three decades after keeping SCT carriers out of the Air Force Academy, there still “isn’t the data?” How is that possible?
• Gene-environment interactions matter. What we eat, how we train, how we sleep, how we respond to stress, etc. Each of these interacts with our own particular genomes. We will only understand these interactions if we systematically pay attention to them.
• How many other supposedly “recessive” traits can be detected in the heterozygous state with careful observation? I’d bet you dollars to donuts there are hundreds if not thousands of them.

On April 24th and 25th in Cambridge, MA, the Boston Open Source Science Lab will be amplifying and sequencing genes for anyone with 40 bucks.

Together, we’ll use the polymerase chain reaction (PCR) to amplify a fragment of one of your genes and have the DNA sequenced. The event will be part of the Cambridge Science Festival and will run from 12 - 4 pm on April 24th and 25th.

We’re doing it at the bosslab, located at 339R Summer St, Somerville, MA 02144, at Sprout. The cost of materials is $40 / person.

I will provide primers that will enable us to amplify sections of several popular genes. If you have a particular gene of interest, please get in touch…

That sound you hear is hundreds of clinical geneticists’ panties getting in a wad. And maybe a few IP lawyers, too…

See you there, you DIY rascals you!

Cystic fibrosis screening in the real world:

Dr. Highsmith agrees that one “extremely good aspect” of CF newborn screening programs is that when an affected baby is identified and brought to a CF center, “you certainly get clinical improvement.” However, he asks, “What happens when you find carriers?…what is the cost of that strategy from both a medical and a parental stress viewpoint?”

Am I to understand that one of the complaints against newborn screening for CF is the “unintended consequence” of finding carriers? Hoo boy.

 UPDATE: full episode is here.

Don’t miss Rebecca Skloot tonight on the Colbert Report. Extra special guest: The BioBus!