genomeboy.com

I have tried to keep my big fat pie-hole shut about the ongoing battle over regulation of personal genomics companies and instead ply you all (my seven readers!) with genomic fluff because 1) I selfishly want to save a lot of the corporate personal genomics stuff for my book; 2) plenty of other folks have weighed in; and 3) I keep waiting for the curtain to fall on this theater of the absurd. Apparently the latter is not going to happen anytime soon:

Ann Willey, director of the Office of Laboratory Policy for New York State, who is both a board-certified geneticist and a lawyer, spoke last week at CHI’s Beyond Genome conference in San Francisco. “I think of this genomic profiling paradigm…as really a star,” Willey said. “By the time we get done regulating it…we’re going to have to force it into a globe and shear off some of its sparkling and promising aspects.”

***

Willey said regulation of these companies could potentially fall into several different categories, including the practice of medicine, or a laboratory, or information management. “The jury is out, we haven’t decided what it is,” said Willey. “Once we make it a duck, it better quack like a duck. No matter what box we put it in, we put constraints on it… But we don’t want to leave them in no box, because we have no oversight.” Willey said her office regularly sends warning letters to laboratory testing facilities, from tests on human genes to microbial flora. “We’re not picking on this [genome analysis] industry. We really want to make this work.

“But I’m from the government and I can’t always help.”

Hoo wee! Really fills one with confidence, don’t it? I only wish I’d stuck around Beyond Genome long enough to see the show.

On a dark coastal highway, nucleic acid in my hair
Warm smell of venture capital, rising up through the air
Up ahead in the distance, I saw blood, spit and sperm
My head grew heavy and my wallet grew light
I had to start a firm

There she stood in the lab bay;
Loading an agarose gel
And I was thinking to myself,
’This could be DNA or this could be cells’
Then she lit up a lightbox and she showed me the way
There were voices on the conference call,
I thought I heard them say…

Welcome to the Hotel Varioma
Such a competitive race
Such a competitive space
Plenty of room at the Hotel Varioma
Every fiscal year, you can find it here

Her tree is ancestry-twisted, Affy she aided and abetted
She got a lot of discrete, discreet traits, that she calls vetted
How they drool in the test tubes, sweet summer spit
Some drool to empower, some drool to transmit

So I called up the FDA,
’Please give me a sign’
They said, ’We haven’t had that spirit here since nineteen ninety-nine,’
And still enforcement discretion is far away,
Shut you down in the middle of the night
Before you hear them say…

Welcome to the Hotel Varioma
Such a competitive race
Such a competitive space
Plenty of room at the Hotel Varioma
What a Judas kiss, better cease and desist

Genotypes we’re revealing,
Your DNA’s on ice
And she said ’This is all just home brew here, it’s not a medical device’
And in the judge’s chambers,
They gathered for the meal
They slap it with their regulations,
But they just can’t close the deal

Last thing I remember, I was
Checking my results
I had to find the passage back
To the world of consenting adults
’Relax,’ said the house doc,
‘We are programmed to protest.
You can market anywhere you like,
But you can never test!’

How would you characterize the climate in the US art community after 9/11?
It has just been horrible. We’re talking about the government pressure on doing activities that are perfectly legal. We’re talking about activities that at one time in this country were considered a great idea, like amateur science. Say someone wants to have a laboratory in their house. I guess not a lot of people have that any more, so that’s weird. And because it’s weird, it’s suspicious. And because it’s suspicious, we have to think it’s probably terrorism.

- Bioartist and “public menace” Steve Kurtz

“Senior scientists running labs don’t read journals; they say the younger people will tell them about anything important that gets published—if they haven’t heard about it beforehand anyway…”

- Michael Crichton in Slate

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.

Six.

That’s how many times I was asked to repeat my name, social security number and date of birth to the technicians at the American Red Cross today. This is how we protect blood recipients?

Apparently some folks have yet to master the distinction between the X and Y chromosomes. Clearly there are unscrupulous genetic testing companies taking advantage of families; in my opinion those firms should have their pants sued off post-haste.

But, at the risk of sounding like a total fuddy duddy and cultural elitist, I guess what I really don’t understand about this story is the way some people view gender:

“I wouldn’t have had an abortion, but there are women out there who experience really big disappointment,” said Jolene Sodano, a stay-at-home mother in Nazareth, Pa., whose daughter was mistakenly identified as a boy. “They really want to give their husbands the little boy they want, or a little girl, and they will abort based on these results.”

I will never know for sure, but I would like to think that had my little girls turned out to be little boys or even little hermaphrodites, I would still love them more than life itself.

I was watching Heroes on DVD last night, the episode where Matt Parkman’s wife freaks out when–ack!–a geneticist calls. I laughed.

I shouldn’t have.

Anyone wondering why personal genomics companies have sprung up like weeds in the last six months need look no further than page one of this morning’s New York Times. Amy Harmon has done her usual stellar job of zeroing in on the zeitgeist: people are afraid of what The Man is going to do to them on account of their genomes. And given what’s gone on in no less venerable an institution than the US military, maybe they should be afraid:

“I always warn them,” said Dr. Stephen Moll, director of the Thrombophilia Program at the University of North Carolina, who uses a genetic test to determine the best treatment for patients with blood clots. “Especially if they are self-employed, I don’t want it to be a surprise if their health insurance premium goes up.”

I would like to believe that actual cases of genetic discrimination are as rare as the rarest Mendelian syndrome. But it may not matter: if people are acting out of fear, then they are acting in ways that can jeopardize their health. It would be funny if it weren’t so heartbreaking:

Treatment for hemochromatosis typically involves removing a unit of blood twice-weekly by phlebotomy. But that would mean disclosing the condition to a doctor, so Mary is planning on becoming a frequent blood donor.

“First do no harm,” anyone? How about you, Dr. No?

Jason chimes in in the comments section of the previous post on the potential value of knowing one’s genotype:

…there are many reasons why someone might want to learn about predisposition to disease, even when therapies are not available, including disease advocacy (i.e. joining a “race for a cure”), or in the specific case of Alzheimer’s, behavioral modifications like the avoidance of contact sports.

To me the judgmental browbeating from the medical community would be comical if it were about anything other than disease. Medical geneticists have been in the business of–in the immortal words of Steve Murphy–”diagnose and adios” for the better part of a century. I wonder how many medical professionals ever, in good conscience, said to the dysmorphologists of yesteryear, “Why even bother trying to understand this syndrome? There’s nothing you can do for this family.” Okay sure, one could argue that dysmorphology and medical genetics are ex post facto pursuits–the unfortunate event has already happened and hey, we need a box to put it in so we can say we did something and at least tell families what we know.

But if we accept the “can’t do anything to change it” argument and the idea that genomes are fixed, then why is it okay to examine something retrospectively but verboten to see what might lie ahead? Because someone might get depressed? Because we have to save people from themselves? Blogga please. When people ask me whether I’m nervous about getting my DNA sequenced, my response is always the same: “Maybe I will feel differently in a month or a year, but for right now  my genome is the least of my problems.”