genomeboy.com

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.

On the Media, arguably my favorite show on NPR, tackles direct-to-consumer personal genomics:

DAVID MAGNUS: Well, they have a right to that information, but that’s not the same as saying they have a right to get it in an unencumbered fashion.

BROOKE GLADSTONE: It is the same as saying that. Why should the medical establishment stop me from [getting] information about me?

DAVID MAGNUS: It’s about making sure that you understand and that there’s adequate informed consent for what you’re getting, so that we can avoid harm. In the story that the reporter wrote about cardiovascular disease, if because of his misunderstanding he starts thinking he doesn’t have to worry about his diet and his exercise and has a heart attack at a much younger age because he misunderstood that information - that is very clearly a direct harm that’s a function of the genetic testing.

BROOKE GLADSTONE: I understand the risk. I do. But the harm comes from the action he takes based on that information. The government, and companies, and all sorts of interests around the world frequently say that certain kinds of information could harm us because of the actions we could take, regardless of whether the information is true or false.

I’m afraid that, in the case of my own medical information, in which the only real victim is likely to be me, if I take ill-advised action, that if a physician says that he or she deems it unnecessary for me to take such a test, then I don’t get access to it.

DAVID MAGNUS: What we’re saying is not that you can’t get access to it but that you need to have a physician involved. If you get to the point where there’s generally understood standards and people start to understand the information pretty well, you start to have a clear understanding of what the harms are, you have a clear understanding of the efficacy of the tests for different traits, when you get to that point, that’s when you tend to allow things to go over the counter or direct to consumer. But you don’t start that way.

But who will decide exactly when “people start to understand the information pretty well?” Will it be doctors, most of whom probably think “SNP” is slang for a vasectomy? Or should it be bioethicists?

I can only hope that this is still active, because I’m sure every homeless hospital patient in New York would be glad to know that his/her genome is worth five gallons of gas, four Sunday Times, three six packs, and a partridge in a freaking pear tree.

The hospital plans to offer a $20 incentive to any patient who donates an eight-milliliter vial of blood to a new Biobank, a warehouse of DNA and plasma that is a central component of the hospital’s Institute for Personalized Medicine. “Personalized medicine,” an approach that incorporates molecular analysis into managing a patient’s health, has been touted as the future of medicine ever since scientists completed the map of the human genome in 2003.

Woo hoo! Muchos gracias, Mt. Sinai! Can I give 16 mls and get $40? Can I bring my kids in, too? How much for my dog’s lymphocytes?

(l to r) Brian Greene, some photobomber, Paul Nurse, Nikolas Rose, Jim Evans, Francis Collins

The World Science Festival was as delightful as advertised. The street fair was overflowing with stuff to do, especially for kids. Next year I hope to bring mine. Bravo to Brian Greene!

I don’t know how my fellow panelists or the audience felt, but I thought our session, “Your Biological Biography,” was both fun and engaging, largely due to the masterful moderating job of Sir Paul Nurse, who is the antithesis of the stereotypical egocentric Nobel laureate/major university president. He is quick-witted, modest to a fault, and a brilliant conversationalist, someone you could chat with for hours on just about any subject. Drs. Rose, Evans and Collins responded in kind with thoughtful and nuanced discussion of personal genomics and all of the surrounding medical, legal, ethical and social issues. My only regret is that Dr. Latanya Sweeney was not able to make it and share her insights on genomic privacy.

I talked about getting my SNP data from George and from Navigenics, the limitations of it, SNPedia, my family history, my own curiosity, and how I’m probably not a terribly zealous early adopter after all. At the end I tried to make two points. One is that genome scientists themselves are succeeding in killing genetic determinism where bioethicists and philosophers have failed. That is, by finding that traits like type 2 diabetes and height are influenced by some ridiculous number of genes and the environment, genomicists are putting to rest the notion that single genes typically exert powerful, inexorable effects that determine who we are. Yeah, that happens in some cases, but complex traits are still complex, which makes accurate genetic predictions harder to achieve and genetic discrimination even harder to justify.

The other thing I tried to get across is that simply trashing personal genomics companies is not terribly helpful. Whatever their shortcomings (and they have plenty), these companies are here to stay in some way, shape or form. The more productive things to do, in my opinion, are to find out why people want this information, what their expectations are for it, how it should and shouldn’t be regulated, and how personal genomics, in all of its guises, can be assimilated by both the health care community and the public in useful ways.

A programming note: On Saturday afternoon I will be at the World Science Festival, which looks like more fun than people should be allowed to have. There I will infiltrate…pretend I belong on…annoy…er, appear on an otherwise esteemed panel, including Nobel laureate Paul Nurse, NHGRI Director Francis Collins (what the…?), computer scientist Latanya Sweeney, sociologist Nikolas Rose and geneticist Jim Evans. We will be talking about how personal genomics affects/will affect our lives; my genome and phenome (yawn) and, I expect, the PGP will be topics for discussion. Please stop by and say hello if you’re so inclined. (Thanks to the indefatigable Alison Snyder for making this panel happen.)

And even if genes and identity aren’t your thing, I encourage those in the NYC area to check out the rest of the Festival. Brian Greene, Tracy Day and company have done a masterful job in putting together an amazing program. It’s dork heaven. baby!

Michael Kinsley is a smart man and a terrific writer. But I think he’s dead wrong about GINA when he writes:

Is it unfair that Yo-Yo Ma can play cello better than I can? Or that people hire Frank Gehry instead of me when they want a beautiful building, or that Warren Buffett is a better stock picker? Sure, it’s unfair. And it’s unfair in precisely the same way the results of a genetic test are: my lack of talent at playing the cello is something I was born with and beyond my control.

This is a non-sequitur. What’s unfair is when people are tested for diseases by their employers without their consent. What’s unfair is when soldiers are kicked to the curb by the military because their ailments are deemed pre-existing. And I think he’s wrong about insurance, too:

The very appealing notion that genetic discrimination is unfair looks especially odd in the context of insurance. The idea of insurance is to protect against the unexpected or unlikely. Forbidding insurers to take predictable risks into account when choosing whom to insure and how much to charge is asking them to behave irrationally and make bets they are sure to lose. Not insuring people who are likely to get cancer, or charging them more, isn’t evil. It’s rational behavior. Of course, we outlaw a lot of behavior that would be rational if it weren’t against the law. But the skeptics who say this is a step on the way to universal health care actually understate the case. To truly apply the appealing principle that people should not be discriminated against because of their genes would be a leveling experiment, like something out of Stalinist Russia or China’s Cultural Revolution.

Then I will sing “L’Internationale” at the top of my lungs. This is another specious argument. Most people in this country are not subect to medical underwriting–they are already treated blindly by their insurers*. Michael Kinsley has Parkinson’s disease. Should he be denied health insurance or employment? I don’t think so. Maybe it would be rational, but would it be right?

The question comes down to this: What kind of society do we want to live in?

*Yes, I know, this excludes the 45 million without health insurance at all.

My view–and Bob Cook-Deegan’s–can now be found here.

At last week’s Translating ELSI meeting, I was amazed at how large the topic of race and genetics loomed. Perhaps I shouldn’t have been: Race is our deep and abiding national wound — it never seems to heal.

In Slate, Will Saletan rethinks his earlier defense of James Watson’s unfortunate remarks:

…policy prescriptions based on race are social malpractice. Not because you can’t find patterns on tests, but because any biological theory that starts with observed racial patterns has to end with genetic differences that cross racial lines. Race is the stone age of genetics. If you’re a researcher looking for effects of heredity on medical or educational outcomes, race is the closest thing you presently have to genetic information about most people. And as a proxy measure, it sucks.

Might personal genomics and widespread sequencing help to change this?

NEW YORK (GenomeWeb News) – A little less than a week after its passage by the US Senate, the Genetic Information Nondiscrimination Act has been passed by the US House of Representatives by a vote of 414 to 1.The bill is the closest it has ever come to being signed into law after being considered in various iterations by both chambers of Congress over the past decade. GINA, which would protect Americans from discrimination based on information from genetic tests, had previously passed in the House twice before — most recently last year, when the vote was 420 to 3 in favor of its passage.

And by the way, we’ll miss you Ron Paul, you ornery cuss.

In April 1986 Nancy Wexler appeared on 60 Minutes to talk about Huntington’s. “I’ve always believed in knowledge for its own sake,” she said. “And it is ironic that after working for precisely that, I’m finding it much more complex than I ever thought it would be.”

***

Speaking once again on CBS in 2004, [Wexler] said, “I think there’s a huge amount of social pressure on people to get tested. I know that with me, if I were to go to bed every night thinking I’m going to die of Huntington’s, you know, why should I bother getting up?”

- From Blood Matters by Masha Gessen

They said it couldn’t be done.

(hat tip)