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.
- “…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.