No experimentation without representation!

Your American tax dollars subsidize biomedical research to the tune of tens of billions of dollars every year. At the very least you should be able to read all about what you paid for without getting double-dipped. Please sign this petition aimed at mandating free access to scientific publications funded by taxpayers.  We now return you to your regularly scheduled hypothesis-free existence.

Category: dissemination nation, Money money money money, political science | Comments Off

Not atoms

 

The universe is made of stories, not atoms.

Muriel Rukeyser

If you were ever interested in reading novels that 1) involve themes of biology in general and heredity in particular; and 2) aren’t trashy, then you’ve come to the right place. Here is a list of my top 5:

1. “Enduring Love” by Ian McEwan (1997)

Not as explicitly “genetic” as McEwan’s subsequent novel, “Saturday,” but a much better read. The plot revolves around a science writer who is stalked by a man with an obscure psychiatric condition (an appendix features a clinical case report). “Enduring Love” is both a taut thriller and a meditation on rationalism, genetic determinism and science after Darwin. Best of all, McEwan is a superb stylist and storyteller. 

2. “White Teeth” by Zadie Smith (2000)

Smith’s hugely ambitious and dazzling first novel deals not only with matters of race, gender, religion and family, but also of heredity writ large (what do we get — and not get — from our parents?) and small (the power of molecular biology).  One subplot features “FutureMouse,” a genetically engineered, cancer-prone rodent that becomes a fulcrum for the story and a potent symbol of the novel’s broader themes. 

3. “Intuition” by Allegra Goodman (2007)

What makes “Intuition” exceptional is that it treats science neither as a pure monastic pursuit nor as a playground for evil geniuses. In other words, like romantic love, science is an entirely human activity, full of moments of transcendence and profound weakness.  Goodman absolutely nails life in a molecular biology lab. 

4. Middlesex by Jeffrey Eugenides (2002)

The story of a hermaphrodite named Cal, “Middlesex” is an epic tale of the immigrant experience, the fluidity of gender, coming-of-age in Detroit, and the place of science (and especially genetics) in the 20th century. Eugenides himself described the Pulitzer-winning book as “a kind of novelistic genome.” 

5. “Mendel’s Dwarf” by Simon Mawer (1998)

I’ve always thought that Mendel was unjustly overshadowed by Darwin — probably because of the way we were tortured by Punnett squares and pea plants in grade school. This bittersweet tale about a Mendel descendant who is both a scientist and an achondroplastic dwarf does a fine job of redeeming the monk in the garden and bringing him to life.

Category: Celluloid Genomes, Here is a Human Bean, literary mutation | 3 Comments

I feel better than James Brown

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).

Not everyone is so lucky.

Category: dissemination nation, Me Me Me, Personal Genomics, privacy en fuego | Comments Off

R.I.P. Duck Dunn, 1941-2012

Today I lost my best friend, the world has lost the best guy and bass player to ever live.”

Category: requiescat in pace, song sung blue | Comments Off

Hair of the blog

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.

Category: blogody, dissemination nation, science journalism | 2 Comments

Don’t give up

Sixty-one percent of my fellow North Carolinians think that homosexuals should not have the right to get married or form civil partnerships. Never mind that gay marriage was already illegal in the Tar Heel State.

Living in a relative oasis of open-mindedness like Durham can make one complacent. “Obama took NC in 2008,” I said to myself. “How could we possibly deny an oppressed group of people their civil rights?” But in the sober light of day I feel like a chump for entertaining such a utopian fantasy.

Fran Lebowitz has questioned why this issue in particular is so important: “It seems to me that these are the two most confining institutions on the planet: marriage and the military. Why would you be beating down the doors to get in? Usually a fight for freedom is a fight for freedom. This is the opposite…People used to pretend to be gay to get out of going in the army.”

That’s dark and funny and also true. But of course gay people’s desire to get married ultimately has less to do with the institution of marriage and more to do with wanting to be measured by the same normative yardstick as heterosexuals, whatever the merits of that yardstick might or might not be.  Marriage is hard and divorce is common. Serving in the military has obvious risks and all too often, tragic outcomes. For better or worse, these are the institutions we associate with “freedom.”

Be that as it may, I am proud to say that, in the wake of last night’s vote, my own employer immediately announced that it would continue to offer same-sex partner benefits to its faculty and staff, as it has since 1994.  Such benefits do not an egalitarian society make, but that does not make them any less necessary.

Until the homophobic generation dies off or capitulates, there is nothing to do but continue the fight. And so we will.

Category: political science, privacy en fuego, You embarrass yourself | 1 Comment

Of hairballs and long hauls

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.

  • No one is denying anybody the right to consult a geneticist. Be my guest. But understand this: if you want to see one in my town, you’re gonna wait six to eight months for an appointment.
  • Consumer genomics customers are a self-selected bunch save for those people who get spit kits as Christmas gifts.  What business is it of yours or mine if they want to know what’s inside their own cells in the privacy of their own homes?
  • For the umpteenth time, read Robert Green’s work about disclosure of genetic risk for Alzheimer’s disease to asymptomatic people. We have no effective treatment for AD yet people still want to know their risk. And almost without exception they don’t regret the decision to know. They’d even pay for it.
  • Last I heard 23andMe charges $99 plus $9/month. They sell information. That information is subject to change. When it changes they send you an email to let you know. Does your doctor do that? I kinda doubt it. But if you’re not comfortable with that type of uncertainty  then you know what: don’t buy it. If you’re really ill and you want/need to see a geneticist, then do it. If it’s an unwanted Christmas gift, send your spit kit back and get something useful.
  • Consumer genetics companies return information about drug response that, in some cases, is strongly influenced by genes. For example, if you have a certain genetic predisposition and take abacavir to treat your HIV infection, you could die. Not useless.
  • Some of my postmodernist friends tend to look down their noses at genetic ancestry testing.  I would argue that they are genetic determinists. Why assume that genetic information is so omnipotent as to irrevocably unravel one’s identity? Why must one narrative trump another? “Because it’s TECHNOLOGY! It’s GENETICS! It is ALL POWERFUL!” Please. It’s just another way of looking at one’s ancestry. And learning about genetics: I would argue that Henry Louis Gates has done as much to stir public interest in genetics as anyone or anything since the Human Genome Project. For realz.

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.

Category: betrayed by ignorance, Dear Doctor, Here is a Human Bean, Me Me Me, Personal Genomics, the subject of humans | 11 Comments

In vivo veritas…or something

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.

Category: Me Me Me, Shameless pimpery | 2 Comments

I Shall Be Released

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.

Category: requiescat in pace, song sung blue | Comments Off

Mother and Child Reunion

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.

Category: Here is a Human Bean, Personal Genomics, privacy en fuego, the subject of humans | 1 Comment