genomeboy.com

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?

A genetic difference is often adaptive and can be regarded as an advance in the evolutionary process; it is well-known that autism sometimes brings with it remarkable powers in the areas of music, art and mathematics. In the 2006 movie “X-Men: The Last Stand,” the augmented powers of those known as “mutants” are even more remarkable and include the ability to walk through walls, to move metal objects as large as California’s Golden Gate Bridge, to auto-generate fire or ice, to be in seven places at the same time, to read minds, to assume any identity, to kill with a touch, to fly like Icarus, to change the weather. These abilities are seen by many “normal” human beings, and a few mutants, as disabilities, as an indication that the person who possesses one of them is a freak.

***

Within the minority community the conviction grows that its stigmatization is the result not of “natural” deficiencies, but of a politically established norm that serves the interests of the powers that be. Exposing that norm as a mere artifact of history with no special claim to authority means first that it is no longer obligatory to honor it, and second, that the community’s norms are worthy of both loyalty and protection. What was once seen as a deviation or something to be eradicated is re-characterized as a culture, and in a short time the culture has a lobby and is demanding respect, representation and even reparations for opportunities denied and rights withheld. The formerly shunned but now legitimized community opens cultural centers, galleries (think of graffiti artists), museums, historical archives, and soon it is being courted by the very mainstream constituencies that for so long accorded it only a negative recognition.

- Stanley Fish on stigmatization

Andrew Yates of Think Gene takes issue with my impassioned defense of GINA:

…you say that’s unfair and cite some fringe cases. I of course agree that your examples are unjust. Yet, I have yet to read a good argument why it is theoretically wrong if genetics is used as an objective standard to select people for services, employment, admission, etc. That good argument is not what you wrote.

How about this: It is theoretically wrong because we know that we are more than our genes and because we have a long paper trail of misguided and inappropriate social engineering supposedly based on genes.

How are we more than our genes? I received my Health Compass data from Navigenics the other day (I hope to post about this soon). Of the 17 conditions for which I received reports, heritabilities ranged from 0.13 (glaucoma) to 0.8 (Crohn’s). Most were in the 0.6 range. My lifetime risks, excluding all phenotypic data other than gender, ranged from 0.02% (lupus) to 41% (obesity). The latter is a bummer, of course, but it’s hardly deterministic (my current BMI is 26, FWIW).

The heritability of schizophrenia is on the order of 0.8–yet somehow we still haven’t found a single major susceptibility locus. Meanwhle, we have genotyped tens of thousands of people to find loci that contribute to height. Well, guess what: there are 54 and counting, each affecting height by an average of 2-3 mm (the standard deviation for height in the population is 7 cm).

To exclude a pilot because he carries a highly penetrant mendelian allele for narcolepsy is one thing, but it’s a rare thing. Genetic discrimination may be rare, too, but given the Burlington Northern precedent, given the military’s recent misapplication of genetics, given the entire ugly history of 20th-century eugenics, am I prepared to believe that government and corporate bureaucracies can be trusted to sort the wheat from the chaff and get “objective” genetic testing right without giving those getting tested some explicit legal protection?

Not yet.

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.

Two items of note:

• First, Dr. No has apparently said yes and so GINA appears to be getting her long-awaited day in the sun. Amazingly, we haven’t all expired from old age.

• Second, the ridiculous case against bioartist Steve Kurtz has been dismissed. Sometimes the justice system actually works…on the other hand, I’m not sure it worked terribly well for geneticist (and former teacher of mine) Bob Ferrell:

Originally charged with mail and wire fraud, Dr. Ferrell entered a plea in October to a lesser misdemeanor charge of “mailing an injurious article” which carried a recommended guideline range of up to six months in prison and a $5,000 fine. In a statement, his family said he pleaded guilty for health reasons. Since the prosecution began, he suffered three strokes and dealt twice with cancer, which is now in remission.

In February, Judge Arcara sentenced Dr. Ferrell to serve 12 months unsupervised probation and to pay a $500 fine. In exchange for his plea, Dr. Ferrell was required to cooperate with the case against his friend.

The scholarly paranoid, says Hofstadter, is also an apocalyptic thinker, “always manning the barricades of civilization.” At least one-third of Expelled is given over to the idea that evolutionary theory caused the Holocaust, via government-sponsored social Darwinism. (In pondering this terrible legacy, Ben Stein weeps at Dachau.) If the paranoid style in politics worried over the end of democracy, the paranoid style in science sees evolution as the end of values, antidepressants as the end of emotion, and genetically modified crops as the end of biodiversity.

Well, lookie here: Nature seems to have jumped on the PGP bandwagon:

Technology development guru George Church — aka the information exhibitionist — is playing a salutary social role with his Personal Genome Project. Church is in the process of gathering phenotypic data and sequencing portions of the genomes of ten volunteers, including himself (see page 763). He intends to study how the genes of these people — all but one of whom have revealed their identities — influence their phenotypes, and to make those data public. Church’s point is simple: information, including genetic information, can and should be freely available.

Whether or not one agrees with him, society had better be ready to deal with the results of such research, which is occurring against a background of explosive growth in the availability of genetic information.

The rest of the piece goes on to rightly excoriate Senator Tom Coburn (R-OK), a practicing obstetrician*, for singlehandedly putting the kibosh on GINA.

*What in Hippocrates’ name is up with these physician-legislators? Dr. Ron Paul is one of three (!!!) Representatives to vote against GINA versus 420 in favor! And remember Bill Frist and Terri Schiavo? Physician, heal thyself.

…I applaud [Hilary Clinton’s] understanding of the relationship between science and the federal government (most recently displayed in an excellent speech she delivered at the Carnegie Institution). If she is nominated to be the Democratic candidate for President, I will support her campaign whole-heartedly.

But on Tuesday, I will vote for Senator Obama, and here’s why. I believe that the Bush administration has so deeply damaged this country’s status, both at home and abroad, that the situation demands the leader who can most rapidly restore our self-respect and the respect of others around the world. This can best be achieved by a clean break with recent history. In that sense, Obama offers more than intelligence, sensible positions on policy, and dedication to public service—the characteristics he and Hillary Clinton share. He represents a new kind of leader, one without ties to a divisive past and one who portrays through his personal history a global perspective that is both crucial and unprecedented. His election, like no other, would instantly announce that America has turned a corner historically and will now be led by a distinct and fresh intellect.

- Harold Varmus, Nobel Laureate and former NIH Director under Bill Clinton, in a statement sent to Wired

(hat tip: The Scientist)