genomeboy.com

GenomeBoy has moved. I have joined a fantastic new network of science bloggers. This blog will now lie fallow. Please come visit me here and check out my amazing colleagues in the PLoS Blogosphere.

Thank you, James T. Kirkus. Note that the official pub date has since been moved up to 2 November 2010.

From the Jewish Daily Forward:

“If you test positive for something and go online and start reading, you have to know what’s accurate information and what isn’t,” said Rhonda Buyers, executive director of the National Gaucher Foundation. “There’s a lot of junk online, and you could be reading inaccurate information and say, ‘Oh my God, it’s fatal. I’m going to die.’ There could be treatments that you’re not hearing about.”

But Misha Angrist, an assistant professor at the Duke Institute for Genome Sciences & Policy, said that requiring health care providers to serve as gatekeepers for genetic information is unrealistic. “Within not that many years, the technology will be such that people can do this in their garage, and to say that you should have to go through a doctor is naïve,” he said, citing the limited number of medical geneticists and genetic counselors. “The infrastructure of medical genetics is not up to holding everybody’s hands.”

Well, it’s not only the folly of the status quo that singes my shorts. It’s the cockroach-like survivability of good old-fashioned genetic exceptionalism. Notice how the Gaucher Foundation director assumes that the reaction to one’s genetic test results will be horrific, worst-case-scenario, “I’m-going-to-meet-my-maker.” She assumes that the vulnerable googler will come upon erroneous information and draw the wrong conclusion. She assumes that that person will suffer for her actions. To paraphrase all the DTC haters, “show me the data.”

***

Last week I had minor, elective surgery. (I’ll spare you the details; it was painful, but as far as I know, successful and uneventful.) Two things to note:

• Before taking acetaminophen with codeine, I checked my genome to see if I carried an allele that made me less likely to respond to codeine. The CYP2D6 literature is a bit of a mess, but I concluded that I probably metabolized codeine normally and so took some Tylenol III feeling fairly certain I was not wasting my time in doing so. And I wasn’t (at least until I got my oxycodone scrip filled…yeah baby).
• A couple days after the surgery, I got an email from the hospital: my pre-op lab results could be downloaded. “Cool!” I thought. Perhaps the end of the buggy whip was nigh!  I opened up the pdf and looked at my various blood cell counts. My white cell count was bolded and *asterisked*. Hmmm…why was that? No explanation. No mediation. No hand-holding! Clearly the next step was to jump off a building. A few minutes of web-surfing assured me that my WBC count was not that high and probably suggestive of a minor infection the week before.

But the point is this: I don’t remember consenting to this data exchange.  Thus, I was sent information online:  1) that I probably did not ask for; 2) without any guidance; and 3) for which there was no a priori reason to assume comprehension on my part. And guess what:  it was okay! I could have chosen not to open the file or I could have contacted someone at the hospital and asked them to walk me through it. Instead I reckoned I could handle it…and I did. Next.

I have to believe that these sorts of lab test results are being dispensed in this way everyday to thousands of surgical patients who are, like I am this week, laid up and not at their best. To my knowledge, however, neither the Energy and Commerce Committee, nor the FDA, nor the GAO, nor the CDC nor any other would-be guardian of the public health has ever made a peep about this practice. (I imagine they are too busy chasing purveyors of Reckless Legs Syndrome risk estimates.)

In all seriousness, I was thrilled that my hospital opted to share my data with me via the simple act of sending me a pdf. The time has come to re-evaluate our reflexive response to information about ourselves, i.e., that we must be protected from it at all costs and/or spoon-fed it via some anointed bureaucracy. Because frankly, if those are the hurdles, then many of us will simply never bother. After all, we have more pressing questions. Like WHERE’S MY PERCOCET????

I have a piece in the June 23, 2010 edition of Slate (is it fair to call it an edition?) on the recent kerfuffle surrounding personal genomic testing on Bay Area college campuses:

A new kind of testing is coming to university campuses across the country. In the last month or so, Berkeley and Stanford each announced that their students would be offered the opportunity to have their DNA analyzed from saliva samples. The range of reactions to this news—from horror at the thought of young people misinterpreting their results to unbridled enthusiasm at the chance for large-scale genetics education—confirms that the field of personal genomics continues to mystify. Genetic testing for disease has been around for 50 years now, yet we have no consensus on how and even whether it should be used in healthy people.

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.

What’s the story behind your blog’s name?

When I told a friend I was getting my genome sequenced, she said, “Why you? What makes you so special, Genome Boy?” I thought that was funny.

What do you think the greatest challenges will be for individuals in the future, as the technology makes accessing personal genomes more affordable?

There will be many. One will be logistical: How do we manage all of this data about ourselves? Another will be learning to think probabilistically: What does it mean to have a 35 percent lifetime risk of Type 2 diabetes? This gets at a larger question: How do we retrain ourselves not to view genes as destiny? They’re clearly not - we are incredibly complex creatures affected by thousands of genes and an infinite number of environmental stimuli. But that’s a hard sell, and as a consequence, genes have been marketed as destiny. We have to get beyond that.

My older brother, with whom I share 50% of my DNA*, gets his book pimped in today’s New York Times:

I’ve been reading a truly excellent book by Joshua Angrist and Jorn-Steffen Pischke called Mostly Harmless Econometrics: An Empiricist’s Companion. It’s not written for a general audience, but if you pulled an A- or better on a college-level econometrics course (and if you love Freakonomics), then this is the book for you.

It makes a swell gift, too.

*as far as I know anyway…oh Mom, you little minx

For those of you in the Raleigh-Durham-Chapel Hill environs, I will be at Tir Na Nog Irish pub tonight in Raleigh for a science cafe sponsored by the North Carolina Museum of Natural Sciences. Here’s some blurb:

Science Cafe: Letting it All Hang Out, The Personal Genome Project
Date: May. 19 - May. 19; 6:30-8:30 pm with discussion beginning at 7 pm followed by Q & A
Location: Other - Tir Na Nog, 218 South Blount Street, Raleigh, 919.833.7795
Fee: Free

Two years ago no one knew what personal genomics was; now it’s everywhere. For a few hundred dollars, you can have a peak at part of your own genome. You can theoretically learn your genetic risks for various diseases. And some companies say you can find romance based on your DNA. But what is all this stuff really? What does it actually mean? What will genomic privacy look like in the digital age? The Harvard-based Personal Genome Project is exploring large-scale DNA sequencing and seeing what happens when genomic data are made public; its organizers hope to help answer some of these questions.

So come on out, have a pint and/or some Irish coffee, and we can talk about 23andMe, exomes ($25,000–yeah baby), privacy and of course, Penguins Hurricanes hockey.

Misha Angrist, an assistant professor at the Institute for Genome Sciences and Policy at Duke University, completed his graduate studies with Chakravarti working on the genetic basis of Hirschsprung’s disease. Angrist remembers his mentor as an idea man above all else. “In the 1990s, I used to walk into Aravinda’s office and he’d be sitting there chain smoking and he’d have a yellow pad of paper in front of him and a pencil and he would sit there and…using only his own gray matter, solve a problem [in] population genetics, with no computer and no massive datasets,” Angrist says. “So he comes from this very pure intellectual tradition in genetics.”

I was extremely fortunate to have seven years in the Chakravarti lab, even if I didn’t always appreciate the experience at the time. Read the rest of the tribute to Aravinda here.

Peter Dizikes has a wonderfully nuanced article about genomic privacy in Salon (which I remember reading back when it was run by three people in their basement with an Apple II). The piece features quotes from Linda Avey, Amy DuRoss, Blaine Bettinger (a law student! who knew?), and yours truly, among others. My favorite is from the always pithy and thoughtful Hank Greely:

This is the seeming paradox of DNA: The better we understand our genes, the less important we might find them. “People believe in the magic of genes, and buy into the idea that they are the deepest secrets of our being,” Greely says. “Whereas maybe my credit card records come closer to being a deep secret of my being.”