Don’t try this at home, kids
Years ago when I was a callow genetic counseling student doing a fellowship in a then-newfangled human genetics lab, I met a guy–a psychiatrist, no less!–who claimed to have obtained a minus-80-degree freezer, a PCR machine, a centrifuge, some pipettors and some gel boxes and installed them in his barn out in the woods. It struck me as both funny and outrageous. Why did he do it? “There are experiments I wanna do that I just can’t do at work,” he said with a straight face.
I confess I don’t know what became of my acquaintance, the Jeremiah Johnson of Molecular Biology, but no one’s laughing now. Because this is exactly what Hugh Rienhoff did (presumably minus the woods) in order to try to track down a mutation that might explain his young daughter’s rare congenital syndrome and her consequent failure to thrive: he bought a used PCR machine, a microcentrifuge, some pipettes, and a gel box. (My only question: did he get them from eBay?) I know I’m a week late on this piece in Nature (subscription only–sorry!–but summarized nicely here), but I’m only just now getting my head around it. In any case, it is an extraordinary story well worth your time and I hope Brendan Maher winds up in Best American Science Writing because of it.
Some thoughts:
- “…we’re still left with maybe a third of patients who come in with morphological abnormalities for whom we’re unable to make a diagnosis.”
I find this to be terribly depressing. One in three clinical genetics patients can’t get a diagnosis, let alone a treatment? The incidentalome and all the other bottlenecks notwithstanding, is there a better argument than this grim statistic for starting to imagine what it would take to make re-sequencing a meaningful and routine part of medical genetics workups?
- …With help from George Church, a Harvard Medical School professor with an extensive track record in new technologies for sequencing and synthesizing DNA, Rienhoff developed a sort of ‘phenotype spreadsheet’ on which to record his daughter’s clinical history.
Ah yes, George Church…Hmmm. Isn’t this guy supposed to be one of those “elitist celebrity genomes?”
- …Rienhoff gave his daughter’s doctors permission to speak to me, and not all of them agreed that he was doing the right thing…in deference to [Hal] Dietz he has removed from his website a folder called ‘How to sequence DNA’ that he had never filled.
This seems to be a pervasive argument–which I’ve heard directly from some folks at the NIH and elsewhere–the essence of which is, “We’re professionals. Don’t try this at home.” As if to sequence one’s own DNA might be akin to building–or disarming–an atomic bomb, a terrifying and awesome responsibility that we won’t be ready for until some governmental or academic body says that we are. Next thing you know desperate people will start trying to cure their own terminal cancers.
I work as an Assistant Professor in the Duke University Institute for Genome Sciences & Policy (although this site and its content are my own).
In 2007 I became the fourth subject in Harvard geneticist George Church's Personal Genome Project. As the PGP moves forward, I am chronicling the dawn of personal genomics, that is, people obtaining their genomic information for whatever reason(s) and figuring out what to do with it. I am interested in the relevant technologies and especially the attendant privacy and other ethical/legal/social issues.
This blog may also discuss some of my non-genome interests or, to paraphrase Dwight Yoakam, "Guitars, Cadillacs, hillbilly music, etc etc."
The header image comes from the Liz Lerman Dance Exchange's multimedia performance piece, "Ferocious Beauty: Genome."
October 25th, 2007 at 8:53 pm
Thanks for your kind words. I’d love to talk with you further about this, as I think this is just the first wave of many more efforts to come. I’d also love to find out more about your proverbial ‘jeremiah.’
In defense of Dietz, I don’t think the essence of his argument was predicated on the fear of outsiders encroaching on his territory. Rather he seemed sincerely worried that such efforts would distract parents and patients and divert resources away from more immediately available treatments. He struck me as a very thoughtful and caring clinician. It may some day be cheap to sequence genes, but at the moment, it’s not, and I hope the story shows that sequence doesn’t necessarily provide clear answers.
Rienhoff admitted he kind of waffled on this point by not putting up instructions to sequence DNA. He is quite positive about the promise such grass-roots efforts hold. He was quoted, not long ago in the Economist as saying something along the lines of “If you can make a soufle, you can do this.” Nevertheless, he defers to Dietz is in part because he respects him and wants to be sure that his daughter will still have access to him and doctors like him.
Cheers!
October 26th, 2007 at 1:39 am
I’ve met Hal Dietz…he is a lovely guy, a gifted researcher and by all accounts a terrific clinician. I absolutely didn’t mean to impugn him in the slightest. He’s outstanding. Your caveats are well taken: there is a promising treatment for Marfan’s thanks largely to Hal Dietz. And of course patients should avail themselves of it and of doctors like him, who are a rare and precious resource in genetics.
I’m not naive. Sequencing is not and will not ever be a panacea. It will lead to many dead ends and probably a lot of broken hearts.
But the Nature editorial accompanying your piece talks about how scary the DIY/Rienhoff approach is. I’m just asking the question: what exactly are we so afraid of? As a parent I think I would be infinitely more worried about my child suffering from an undiagnosed condition than I would about Joe Six Pack running a few PCRs in his basement. I just don’t see how the latter is something we should be fretting about.
October 26th, 2007 at 1:42 am
And again, Brendan, nice work!
November 4th, 2007 at 9:54 am
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November 4th, 2007 at 11:26 am
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