Open season

I loves me some Soapbox. Thanks to the Nature blogs folks for letting me rant on a favorite theme:

As a graduate student, I studied the genetics of Hirschsprung disease, a congenital disorder of the nervous system in the gut (and, as I describe in my book, a disease that would affect my own family many years later). Among the things I found to be most gratifying (and yes, occasionally frustrating) in my doctoral studies were the interactions with Hirschsprung patients and families. We students had pledged our fealty to Science writ large, yes, but we weren’t studying roundworms or fruit flies. Our “subjects” (a descriptor of research participants that, in my opinion, is condescending and should be retired ASAP) were thinking feeling human beings. If we found a highly penetrant mutation in their DNA, it had the potential to alter their reproductive decisions and their lives. It meant something to them.

Read the rest here.

Category: Here is a Human Bean, The scientific-industrial complex, blogody, dissemination nation, the subject of humans | Leave a comment

Phenotype of the day

hey man, nice shot!

Category: bottom up, phenotype of the day | Leave a comment

Good Evening, Mr. and Mrs. America…

…and all the ships at sea. It is I, the blogger who can’t be bothered to blog. My kids–and my publicist, if she weren’t so nice–would say various permutations of “LAME” and “FAIL.” And they would be right…So, let me pledge my troth that next week will bring with it actual content. Meanwhile, here’s my near-term “dillio:”

  • Wednesday January 18, 7PM: I will be at The Regulator Bookshop in beautiful Durham, NC celebrating the paperback release of Here is a Human Being. Rather than read from my book in somnambulent tones ad nauseam, I hope to show a few slides and have something more freewheeling and organically psycho-interactive. Please come…there will be no obligation and no salesman will visit your home.
  • Thursday January 19 to Sunday January 22: ScienceOnline at North Carolina State University! This is my favorite meeting evah, the only downside being the hard choices one must make when choosing between concurrent sessions. On Friday morning Paul Raeburn and I will be talking about teaching science writing in the age of social media and on Saturday afternoon I will join Kristi Holmes and Sandra Porter in a discussion about–wait for it–personal genomics. I am totally psyched…as I am every year!
  • Next week: the aforementioned “actual content.” Gory details to follow!
Category: Here is a Human Bean, Me Me Me, Personal Genomics, Shameless pimpery, science journalism | Leave a comment

The Ethication of Little Jew

We’re nothing if not incestuous around here. A few weeks ago, I had the pleasure of interviewing renegade bioethicist Carl Elliott. His brother and nemesis, Britt Elliott (aka The Ethicator),  has generously returned the favor:

BE:  I sometimes think of myself as the Steve Jobs of bioethics.  Not that I would put words in your mouth or anything.

MA: Well, I guess if the shoe fits, right? But I imagine that that’s quite a heavy burden, no?

BE: Yes, a heavy burden indeed — but not as heavy as Carl’s burden, which is being known only as the brother of the Steve Jobs of bioethics.  I’m sure he can manage that, though.

On to your book.  What is it about — genetics or something? I forget.

Read our entire not-at-all-awkward conversation here.

In other What Narcissism Means to Me news, a recent podcast I did with the fabulous folks at American Scientist is now up. (And by the way, is there a better name for a band than Ardent Octopus? I didn’t think so.)

Category: Here is a Human Bean, Me Me Me, Personal Genomics, Shameless pimpery, You embarrass yourself, asshattery | Leave a comment

“Something genetic”

About a month ago I implored you to donate to The Rare Genomics Institute, which is an organization that is not trafficking in airy-fairy promises about what genomics can do for you or your executive health program or worrying about the therapeutic misconception or possible anxiety caused by return of genetic results. No, it is trying to use large-scale DNA sequencing to help families with really sick kids get diagnoses. Among those families is the Nieders, whose three-year-old daughter Maya…

…has global developmental delays of unknown origin (probably something genetic that we haven’t found yet).  She’s been through a barrage of testing, but nothing has been figured out.  She has a normal brain MRI, normal karyotype, normal FISH, and normal microarray. She has had 2 surgeries: her adenoids were removed, and ear tubes were inserted.  Her hearing raises questions—in behavioral testing, she seems to hear normally (or close to normal), which directly contradicts a sedated ABR that said she had mild/moderate hearing loss.   She can’t speak (aside from 1 or 2 words), but communicates through making sounds, using signs, gesturing, using her iPad, and using communication boards.

Six months ago, someone put the Nieders in touch with RGI and the family began to consider the prospect of getting Maya’s exome sequenced in order to end her diagnostic odyssey. Last week the family visited Yale, which would perform the sequencing. The catch: the family had to raise the $2500 necessary to pay for it.

Yesterday I got this email from RGI staffer Naira Rezende:

I think we broke some record somewhere…This weekend, we setup her fundraising site and prepared to sequence [her and her parents'] exomes. Tuesday, the patient’s mother told the world (via blog) about this effort. We raised the funds needed to sequence 3 exomes in SIX HOURS! :)

This is what I’m talking–and getting verklempt–about.

Category: Dear Doctor, Money money money money, Personal Genomics | Leave a comment

A conversation with writer and troublemaker Carl Elliott, Part II

Introduction and Part I here.

You have criticized your own institution, the University of Minnesota, in print, for being involved in a dubious drug trial in which a patient died. I can imagine that doing a story like that might have saved you on travel, but it probably didn’t earn you Employee of the Month. What was that like?

Carl Elliott: It’s been pretty ugly.

Can you elaborate? Had you known it would turn out this way, would you still have done it? Has anything good come out of it?

CE: Well, as far as I can tell it has made me a hated figure at the University of Minnesota, at least, in the Academic Health Center.   Not a single administrator at the university has said anything supportive or sympathetic, even in private. I’ve seen people duck in doorways when they see me coming.  Last winter, the Board of Regents turned down a request for an external investigation of the suicide.  The public affairs office has told reporters I am on a personal crusade against the Department of Psychiatry.   Last spring, the General Counsel for the AHC, Mark Rotenberg, met with the Academic Freedom and Tenure Committee to discuss whether academic freedom protects faculty members who make “factually incorrect attacks” on university research.

That said, I’ve gotten a lot of support from my colleagues in the College of Liberal Arts, and from a handful of my colleagues (not all of them) in the Center for Bioethics.  All that has been tremendously reassuring.  If not for them, I’d probably be contemplating my next move in a dimly lit room with a bottle of Jack Daniels and a revolver on the table in front of me.

Would I have done it if I had known it would turn out like this?  Sure.  The trouble with being raised in the South is that you are driven by this twisted sense of shame and honor that compels you to do things that everyone else sees as moronic, insane or self-destructive.

How did you wind up writing for The New Yorker? Did you submit something(s) over the transom? Or did they seek you out?

CE: If you bother them long enough they’ll eventually relent and publish something, just to get rid of you.

There are countless MFA grads (myself included) who will be comforted to know that…What about the initial impulse, though? At some point you must have made a conscious decision that instead of sending your work to the Moldavian Journal of Bioethics that you would try for a mainstream magazine. What prompted you to do that?

CE: Unfortunately, I was never able to get an article into the Moldavian Journal of Bioethics.  That’s a tough nut to crack.  I think you need an agent.

Back when I was imprisoned in medical school in South Carolina, looking desperately for an escape route, I used to get The American Scholar in the mail.  This was an accident.  I had no clue what the magazine was, but it had started arriving after I was elected to Phi Beta Kappa in college.  Medical school is a kind of intellectual suffocation, and I was so desperate for air that whenever The American Scholar arrived I would read it cover to cover.  It’s hard to imagine that now, but it’s true.  Joseph Epstein used to write an essay for every issue under the name Aristides, usually about something casual but abstract — like, say, name-dropping — and those essays seemed brilliant to me.  They were really smart and funny, but also unpretentious.  He made writing seem effortless.  For years I wanted to write articles like that, for readers like that, but I had no idea how to do it.  So I just kept trying and failing, until eventually I stopped failing so often.

I have to ask: what is the deal with your brother, “B. Elliott?” He runs the WCBH website and insults you regularly via blog, twitter and interview.  It’s quite hilarious, but I imagine that some people don’t get the joke–or is it a joke? And what did/does your publisher think?

CE: My brother is a very disturbed man and we can only hope he gets the medication he so desperately needs.

Actually, that website makes me laugh so violently I need medical help myself.  My publisher hates it.  They think it is juvenile and obscene.  They’re right, of course, but that’s what makes it so funny.  It’s much better than my book.

You must find yourself mentoring students who, prior to working with you, have been groomed for the sort of bioethics you disdain and who probably don’t have much in the way of investigative journalism skills. How do you go about training them?

Over the years I’ve had a handful of graduate students who seem interested in this kind of writing — by which I mean literary journalism, or narrative nonfiction — and some of those students have been really good, but for the most part, they are pretty set on the standard academic track…which doesn’t really make room for this kind of writing.

I did teach a class last year on Investigative Journalism and Bioethics (known informally as “Fear and Loathing in Bioethics.”) My co-instructor was Amy Snow Landa, a graduate student here who used to be a health journalist, and we cross-listed the course with the journalism school.

You know what bothered the traditional bioethics students the most?  Talking to actual human beings.  They wanted to write their papers without ever picking up the phone or making an appointment to interview a source.  The idea of talking to an actual human being terrified them, especially one who might not welcome their call.

Investigative journalism is a tough job.  I admire investigate reporters a lot — the real ones, I mean, not second-raters like me — but they are a special breed.  One of the books we read in our Fear and Loathing class was Poison Penmanship, a collection of essays by Jessica Mitford.  She quoted an English reporter who said that the only qualities you need for success in journalism are “a plausible manner, ratlike cunning and a little literary ability.” To which Mitford added: “plodding determination and an appetite for tracking and destroying the enemy.”

That seems about right to me.  Investigative reporting is a job where a little bit of malice goes a long way.

Category: Dear Doctor, Here is a Human Bean, Money money money money, The scientific-industrial complex, mmm...dead trees, political science, science journalism, the subject of humans | Leave a comment

A conversation with writer and troublemaker Carl Elliott, Part I


In 2009 I attended the annual meeting of the American Society for Bioethics and Humanities. The keynote speaker was Carl Elliott. I knew he was a Professor at the Center for Bioethics at the University of Minnesota and I knew he wrote for The New Yorker. I had assigned his piece on the lives of human research participants, Guinea-Pigging, to both my science writing and genomics-in-society classes. But none of that prepared me for his speech, which was eloquent, thoughtful, accusatory, profane, and above all, funny as hell. In 25 years of  academic conferences, I can’t recall hearing another talk that made me laugh until I cried.

There were hilarious vignettes from Elliott’s South Carolina childhood and jabs at “bioethicists for hire” (including many in the audience–at times it was almost as though the National Cattlemen’s Beef Association had invited a strident and acerbic member of PETA to deliver its keynote). But in between was a question: why weren’t more of us doing what he was doing? Why weren’t we investigating egregious, troubling or even benign-but-fascinating practices in medicine? Why weren’t we trying to reach bigger audiences to call attention to acute issues in bioethics? Why weren’t we, you know, talking to people?

I suspect that the answer is because most of us are neither professionally nor intestinally equipped to do it with the pointed grace and art of Carl Elliott, as evidenced by his recent book, White Coat, Black Hat: Adventures on the Dark Side of Medicine. Part I of our email conversation after the jump.


Continue reading »

Category: Dear Doctor, Money money money money, The scientific-industrial complex, dissemination nation, mmm...dead trees, political science, science journalism, the shoulders of giants, the subject of humans | 1 Comment

You never call

I think those of us (yes, I’m looking in the mirror) who complain loudly when an article we want to read is trapped behind a pay wall have an obligation to call attention to our own work when we–or our generous benefactors–have paid (in this case, $2800) to make it open access. So…here you go. Regular readers will recognize a familiar refrain:

For decades scientists and ethicists have debated the merits and risks of returning and withholding research results from research participants…Recently, those questions have become more acute for genetic data in particular as the cost of DNA sequencing continues to nosedive. Research studies of whole genomes and whole exomes of potentially identifiable people are suddenly everywhere. Thus, even though a given study might be focusing only on the genetic basis of, say, Crohn’s disease or epilepsy, a researcher might find that she has every participant’s and every control’s complete ‘cellular hard drive’, that is, his or her full set of protein coding sequences and all the variation therein, at her disposal. What’s a principled principal investigator to do?

Download the whole thing here.

Category: Dear Doctor, Here is a Human Bean, Personal Genomics, The scientific-industrial complex, the subject of humans | Leave a comment

Requiescat in pace

photo source: http://web.mit.edu/newsoffice/2011/obit-khorana-1110.html

From the New York Times:

Dr. Khorana used chemical synthesis to combine the letters into specific defined patterns, like UCUCUCUCU, from which he deduced that UCU encoded for serine and CUC encoded for leucine. His work unambiguously confirmed that the genetic code consisted of 64 distinct three-letter words. He and Dr. Nirenberg discovered that some of the words told a cell where to begin reading the code, and where to stop.

In 1972, Dr. Khorana reported a second breakthrough: the construction of the first artificial gene, using off-the-shelf chemicals. Four years later, he announced that he had gotten an artificial gene to function in a bacterial cell. The ability to synthesize DNA was central to advances in genetic engineering and the development of the biotechnology industry. “He left an amazing trail of technical achievement,” said Dr. Thomas P. Sakmar, a professor at Rockefeller University and a former student.

Category: requiescat in pace, the shoulders of giants | Leave a comment

Things we said today


In my book, I wrote:

For decades, medical genetics has been criticized as a field akin to bird-watching, whose credo is “diagnose and adios.”

That’s still true…and even the “diagnose” part is too often elusive.

But change is afoot. Numerous teams of clinicians and genomicists (including two at my own institution)  have come together to sequence patients’ genomes and/or exomes to identify disease-causing mutations.

Of course, doctors and researchers and genetic counselors are still bickering about when to sequence, whom to sequence, return of results, institutional liability, whether we are confusing research with patient care, and on and on. But for the moment, what everyone can agree on is that parents of kids with serious undiagnosed conditions likely to be genetic absolutely do not give a shit about any of those things.

They want help. They want answers. For two decades we have painted grandiose pictures of personalized medicine. Are we going to keep moving the goalposts? Are we going to tell them that we didn’t mean it?

The good news is that the up-and-coming generation of whole-genome sequencing “natives,” who are less worried about HIPAA violations than by the prospect having to look heartbroken parents in the eye and shrug and mumble apologies, have begun to organize. Among them are the folks at The Rare Genomics Institute, a nonprofit that raises money for whole-genome sequencing for children with rare or orphan genetic diseases.

One of the reasons I wrote my book was that I thought it was time to move beyond thinking about genetics and genomics as abstractions: a bunch of pea plants 150 years ago, a smear on a gel, a string of letters on a screen, a series of grant applications making vague promises about helping someone with something…someday.

Goddammit, today is the day. Robert, Maya and Gram are not birds in a field guide or case studies in a dysmorphology textbook or entries in a dataset.

They are someone’s kids. They could be yours.

Help them.

Category: Dear Doctor, Personal Genomics, bottom up | 2 Comments