I had a physical last week and I am fortunate: I seem to be in pretty good health overall. But even if I weren’t, I would be grateful that my health care provider is forward-thinking enough to post my lab results to my “health portal” where I am free to ignore them, look at them, google them, and yes, fret about them whenever I want and without anyone’s permission (e.g., those are my actual metabolic panel results above).
“Today I lost my best friend, the world has lost the best guy and bass player to ever live.”
Major props to Shema et al for considering the characteristics of research bloggers and their blogs. I confess to feeling sheepish that I have not registered Genomeboy with researchblogging.org, which allows bloggers to refer to peer-reviewed research in an academic citation format. I suppose because consideration of peer-reviewed research is scarce around here (yes I know: as are most things) and because other people do that kind of stuff so well, I’ve never made it a priority. Maybe I need to rethink that stance.
Much of what the authors found was not terribly surprising: research bloggers tend to be highly educated, male and into the life sciences. They blog mostly under their real names, mostly in English and mostly about big sexy papers in big sexy journals. I would hope that the ecosystem will become more diverse; it seems like ways to make that happen ought to be the focus of future research (if that’s not happening already).
All that said, five years ago I doubt that a paper on research blogging would have been published in any peer-reviewed journal, let alone a prestigious outlet like PLoS ONE. You’ve come a long way, baby. Rock on.
The Awl–which I totally and unabashedly love–has a piece on the over-promise and under-delivery of personal genomics. It’s a familiar meme and probably not news to Genomeboy readers (both of you!) that a fair number of folks feel this way. I have some sympathy for the “too much hype” argument, especially in light of how complicated common diseases and traits have turned out to be and how the personal genomics industry (if we can still call it that) has declined to come together to develop standards, choosing instead to fend off the annual sabre-rattling by the FDA on an ad hoc basis.
As I recall, I spent a long time on the phone with the Awl writer and said many things, including this:
“It turns out to be just a total fucking mess. So instead of having this linear icon representing human biology, the most potent symbol now is the hairball.”
If we are talking only about type 2 diabetes or human height or Crohn’s disease or certain forms of cancer, then yes, I wholeheartedly stand behind the expletive and the hairball.
BUT!
Personal genomics, in my view, should not be judged solely on its inability to deliver meaningful risk information about common diseases or how tall someone is likely to be. Our genomes harbor other stuff; we can choose to ignore it if we want to, but that doesn’t mean it ain’t there.
The two abiding criticisms of personal genomics are that the information is 1) useless and 2) dangerous. So here’s half a touché: I will go ahead and concede that knowing my lifetime genetic risk of developing primary biliary cirrhosis is 1 in 2000 (or 1 in 500) instead of the population average of 1 in 1250 has no substantive meaning for my life or how I choose to live it. Hell, it’s not even clear the extent to which genes contribute to PBC.
Which leaves the genome as “DANGER,” Will Robinson, something that was not addressed in The Awl article. My 23andMe profile includes information about my carrier status for 44 diseases caused by defective single genes. If those diseases are inherited in an autosomal recessive fashion, and if I carry one bad copy and my mate carries one bad copy, then our children have a 25% risk of being affected with that disease. And it’s serious shit like Tay-Sachs and cystic fibrosis and muscular dystrophy.
If we’re talking about hereditary breast cancer, an autosomal dominant condition, then a single bad copy of the BRCA1 or BRCA2 genes would mean something like an 80% lifetime risk of developing breast and/or ovarian cancer in female carriers. 23andMe tests for the three most common hereditary breast cancer mutations in Ashkenazi Jews. As it happens, I am of Ashkenazi descent and my Mom had early-onset breast cancer (she is alive and well and is wondering why you never call). Thus, when I learned from 23andMe and DNA Direct that I did not carry any of those mutations and therefore could not transmit them to my daughters, I was relieved. Fucking right I was! Say what you will about consumer genomics, but hereditary breast cancer risk information is not useless.
“But Misha, you’re a geneticist! You understand these things! We can’t disclose this sort of information to The Ignorant and Unsuspecting Public! They will jump off a bridge! They can’t handle this without a man in a white coat patting them on the knee!”
This is an old and tired argument and having to combat it makes me feel old and tired.
So yeah, it’s a mess and a hairball and a bushel and a peck. And so not destiny. But that doesn’t mean that some of it isn’t useful and fascinating. Of course it’s fascinating: it’s about us.
Programming note: On Wednesday May 2 at 11AM EST I will be a guest on Radio In Vivo, following in the large and sexy footsteps of my brother-in-arms and fellow Triangle denizen David Kroll. Folks in the People’s Republics of Carrboro and Chapel Hill can listen over the air on 103.5 FM. The rest of y’all can stream it live on the web at wcomfm.org.
When I was in high school and The Last Waltz appeared in theaters, it turned my head around like no music film before or since. I saw it in the movie theater no fewer than eight times. I bought every Band record I could get my paws on including a few bootlegs. I saw Rick Danko at a gymnasium in the 1980s and had the good fortune to attend a Levon Helm Midnight Ramble a few years ago. When I imagined playing the guitar, it was–and is–a Fender Telecaster or a Stratocaster because that’s what Robbie Robertson played. The same Robbie Robertson who, for my money, consistently wrote songs that spoke to me in a way that Bob Dylan’s rarely did.
Levon’s book is pretty good as rock memoirs go. But it always saddened me that he carried around such bitterness toward Robbie: songwriting credit, breaking up The Band, the death of Richard Manuel, money issues, etc. Maybe the enmity was deserved, I don’t know. But it’s heartening to sentimentalists like me to know that they had a final visit.
Requiescat in pace, Levon. Your music remains as glorious as ever.
In a remarkable paper in Cell, Stanford geneticist Mike Snyder and colleagues performed a number of detailed “omic” analyses on…Mike Snyder. And his mother. He spoke about the project to Genome Biology.
And would you encourage your children to have their omes sequenced?
MS: I think it is up to them to decide if they want to get their genomes sequenced. On one hand, there are many useful things that can be learned. However, I would advise against it if they turn out to be worriers because we all have many deleterious mutations.
How publicly available are the data going to be and how comfortable are you with this level of availability?
MS: All of the data have already been submitted to public databases. I am quite comfortable with this. In fact, people see my talk and frequently offer me useful insights about my variants.
Why I agreed to read more than 1000 pages of fiction in two weeks while swamped with deadlines and teaching responsibilities of various sorts I don’t know. I’m an idiot? Plausible. Or maybe I just can’t say no to Rosecrans Baldwin. He’s dreamy. And ridiculously talented.
As a judge in the Tournament of Books, I agreed to read 1Q84 by Haruki Murakami and The Last Brother by Nathacha Appanah. The whole review is here. But if that exceeds your Why Should I Care quotient, here is a snippet:
In the end, Murakami, the avid runner, limps across the finish line needing an IV. But his canvas is so broad, his imagination so deep and his cojones so big, you’ve got to hand it to the guy. 1Q84 is long, yes, but it presents a fully realized world, with two moons in the sky and sex, drugs, and Little People saying “ho-ho” on the ground. Tengo and Aomame are palpable, memorable characters waging existential struggles, both micro and macro. Could 1Q84 have been 400 pages shorter? Probably. But I’d say the same thing about War and Peace. And Proust.
If your doctor orders a genetic test for a single-gene disorder (often one that might be caused by variants in any of several genes), chances are that the gene or genes being tested in you have been patented. This has provoked 25 years of debate and, more recently, litigation. The most salient question of the moment is, if a patented genetic test is offered by only one lab, then what can and should a patient do?
As part of the implementation of the Leahy-Smith America Invents Act, Congress has directed the United States Patent and Trademark Office “to study effective ways to provide independent, confirming genetic diagnostic test activity where gene patents and exclusive licensing for primary genetic diagnostic tests exist.” To that end, the USPTO has requested public comments and held public hearings in order to gather information for the genetic testing study it must submit to Congress by 16 June 2012.
All of this, of course, was precipitated by AMP v. USPTO (“The Myriad Case”), in which patients with family histories of breast cancer asserted that they have not been able to get confirmatory or “second opinion” testing because there is but a single, exclusive licensee of the patents on the most clinically important genes that predispose to hereditary breast and ovarian cancer, BRCA1 and BRCA2.
I attended the public hearing at the USPTO in Alexandria, VA on 16 February 2012. I was so appalled by what I heard that I attended the second one in San Diego on 9 March 2012 and testified. I am still adding links to my testimony in order to submit it before public comment closes on 26 March 2012. Here is a brief excerpt on Myriad’s unwillingness to share its mutation data:
0 | Unique Visitors |
I am in the Duke University Institute for Genome Sciences & Policy. In 2009 I had my entire genome sequenced. My book about all of this stuff (and more) is called Here is a Human Being: At the Dawn of Personal Genomics, published by HarperCollins in 2010. Find me on Twitter: @MishaAngrist.
Read more here.
