Questions around personal genomics

The breadth of topics studied in medical anthropology — or anthropology in general — is so broad that when I choose to write about a wealthy, industrialized nation issue like personal genomics, I feel a pang of guilt that I’m not posting about malaria and insecticide resistant mosquitoes or the new UNICEF cholera toolkit.  It’s that diversity of topics that keeps me hooked, though, so here we go!

We’re at a point where genetic testing for various disorders is becoming more common and where it’s not prohibitively expensive to get one’s DNA genotyped.  This year, I asked for it as a birthday present; in a couple months I should have my report from 23andme. Since a number of factors went into my decision, I thought I’d use them to frame a post about the individual considerations of genotyping and sequencing.

Why do it?

For me, the answer is pure curiosity and that I like the idea of contributing my data set to ongoing research. I have no biological offspring, so I’m not looking for risk factors that may be passed to them.  My ethnicity and family tree are known and I don’t expect any surprises, but neither would they bother me. There’s also the possibility for customized medical treatment in the future, and of knowing right now if I’m more or less sensitive to some medications.

first world problems

I bounce with nerdy excitement thinking of some things I could learn, even if the knowledge doesn’t have much practical application. For example, the American Red Cross won’t take my blood because of a remote possibility that I was exposed to Creutzfeld-Jakob Disease  in the early 1990s. This test won’t tell me if I was exposed or not, but it can reveal if I have an A at both copies of rs17571, which is correlated with ten times greater risk of contracting the disease if I was.  Neato!

What about privacy?

I’m not prepared to join the ranks of people who have released their genetic information online, yet.  Micah wrote about the shocked reaction of Henrietta Lacks’ family when the HeLa genome was published and while DNA may be unique, I don’t feel it’s ethical to reveal genetic information about my parents or possible information about my sibling without consent.  Dan Vorhaus at Genomes Unzipped has a good post about his decision to take his genetic information public and how he approached his family. The potential for the abuse of that information by others is too great, and I when I decided to have the test done I weighed the chances for stigma and discrimination, not only based on what genetic knowledge we have now but what we might learn in the future. I’m too hacker-aware to believe my data will be truly private or anonymous anywhere, so that was part of my calculation. I decided not to consider the more remote possibilities, such as those in the prequalification reading for enrollment in the Personal Genome Project:

More nefarious uses are also possible, if unlikely. DNA is commonly used to identify individuals in criminal investigations. Someone could plant samples of DNA, created from genome data or cell lines, to falsely implicate you in a crime. It’s currently science fiction — but it’s possible that someone could use your DNA or cells for in vitro fertilization to create children without your knowledge or permission, or to create human clones.

What if the test shows something terrible?

A lot of what we know now is limited to correlations and increased chances.  I disagree strongly with congressmen who think that someone who learns that he has a genetic risk factor will “panic first and ask questions later”, which seems like a reductive and wrong guess at human behavior, especially among those who are proactively seeking that information. Some very intelligent and knowledgeable people  — James Watson and Steven Pinker among them — have chosen not to learn if they have a variant associated with a higher risk of Alzheimer’s Disease (read Pinker’s great article about his personal genomic explorations). I want to know all I can.  Maybe I feel confident because I’ve immersed myself in genealogy recently and have seen a lot of long-lived ancestors, but I think that I can handle it.  There’s a big difference between increased risk and a certain future, after all.

What’s the anthropological angle?

There are several:

  • This piece from the Yale Journal of Biology and Medicine nicely summarizes Margaret Lock’s talk on this topic at the 2009  Society for Medical Anthropology meeting.  From the article, “…Lock believes that it is now time for anthropologists to be more accepting of this reality and even aid the integration of the genomic era by examining the many issues that arise because of its associated activities, such as the social implications of genetic profiling, the ownership and moral dilemmas of engineering hybrid crops and livestock, and the societal perception of the newly formulated concept of man’s own hybridity.”
  • There is a question of ownership and advocacy to explore. Myriad Genetics has patents on genes BRCA1 and BRCA2, which have been in the news lately because of Angelina Jolie. These patents prevent other companies from testing for mutations on those genes, keeping the price high. The ACLU took this issue to the Supreme Court last month and a decision is expected in summer, but as our genetic knowledge expands, ensuring access to diagnostic testing seems like an issue we’d care about.
  • The field of anthropological genetics and the more broad molecular anthropology. One of the features 23andme promotes is an estimation of what percentage of a subject’s DNA came from Neanderthals. I’m a bit wary of that one.
  • Every aspect of human experience from avoiding or seeking testing, to how results impact one’s identity and risk perception, to watching for the creation of new social categories based on genetic factors, to whether this is just reinforcing the hegemony of “Western” medicine.

Jail for drinking…

Two men in Cameroon were sentenced for drinking. Not for the act itself, or the harm it can pose to society at large or personal safety. Rather, the conviction came for the type of drink they chose, and what that meant as a result. The consequences led to plenty of harm and abuse during their one year of jail time.

http://www.foxnews.com/world/2013/01/09/cameroon-court-reverses-conviction-2-men-found-to-be-gay-for-drinking-bailey/

Viability at 23 weeks 6 days

New chances accompany new moral dilemmas when technology is applied to human reproduction.  Don’t miss this thought-provoking podcast from Radiolab:

Technology has had a profound effect on how we get pregnant, give birth, and think about life and death. The decision to become parents was not an easy one for Kelley and Tom. Even after they sorted out their relationship issues and hopes for the future, getting pregnant wasn’t easy. But, thanks to a lot of technology, they found a way to a baby. Then, about halfway through the pregnancy, the trouble began. Neonatal nurse practitioner Diane Loisel describes helping Kelley and Tom make the most important decision of their lives. And Nita Farahany helps Jad and Robert understand the significance of viability, and how technology has influenced its meaning…making a difficult idea even harder to pin down. [Listen here]

(tip of my Stormy Kromer cap to the Twitter feeds of Somatosphere and AnthroRepro)

Patient dumping: from Greyhound buses to private planes

Last night’s Colbert Report did a “The Word” segment about “medical leave”. No, not when you take time off from work for illness, but what people are calling medical repatriation. I’d only known that phrase as part of the travel insurance I buy when heading out of the country, to get me home in case I fall ill or am injured. Colbert’s segment is talking about something else, less euphemistically known as patient dumping. [Watch the video.]

The first example in the video is that of two undocumented workers in Iowa who were comatose after an automobile accident. They had insurance (which is rather remarkable and kudos to the unnamed agricultural firm that employed them), but it wasn’t clear to the hospital if long-term care would be covered. So, after less than two weeks, the hospital flew the unconscious men to Mexico and put them into a hospital in Veracruz.  There’s a more complete summary from the Des Moines Register.

Fiscal responsibility is certainly important for hospitals, but patient care is supposed to be their raison d’etre.  Medical repatriation is just one example of where those two purposes conflict. Writing in The American Journal of Bioethics last year*, Mark Kuczewski proposed that medical repatriation could be ethical (legality is a separate issue) if particular conditions are met:

(1) Transfer must be able to be seen by a reasonable person as being in the patient’s best interests aside from the issue of reimbursement. (2) The hospital must exercise due diligence regarding the medical support available at the patient’s destination. (3) The patient or appropriate surrogate must give fully informed consent to being returned to another country. (Kuczewski 2012:1)

There are some excellent peer commentary essays that critique his approach as well as a response from Kuczewski. Even if we accept his initial three requirements, it seems that the Iowa case falls far short. And, that was just one case.  A recent report states that there have been more than 800 cases of attempted or successful medical repatriation from the US in the past six years.

The second example in Colbert’s piece is about a Las Vegas hospital accused of putting psychiatric patients onto Greyhound buses and sending them to other states without a support system in place at the destination. This practice came to light through a March story and a follow-up investigative report in April by The Sacramento Bee. The Nevada Department of Health and Human Services investigated and found that of 1,500 patients discharged from Rawson-Neal Psychiatric Hospital since 2008, ten had been bused off into the abyss without any support.

During the five-year period reviewed, Rawson-Neal maintained an aggressive practice of discharging patients to the Greyhound terminal in Las Vegas, sending them off, unaccompanied, with Ensure nutritional supplements and a limited supply of medications.

The second Sacramento Bee article notes that funding for mental health care in Nevada has been slashed in recent years, and that from 2009 to 2012, the number of discharged patients bused out of state from southern Nevada increased 66%. Or as Colbert puts it, “In America, we don’t turn a blind eye to the needs of our fellow man. So we need to send them someplace we can’t see them at all.”

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* Kuczewski, Mark. 2012. “Can Medical Repatriation be Ethical? Establishing Best Practices”. The American Journal of Bioethics 12(9): 1-5.

A room designed by prisoners

Gizmodo has an article this week about a room prototype built by inmates in Spoleto, Italy, who attended design workshops. It’s not intended to be a cell though it has the same dimensions; it is built with the lived experience of people who spend each day in a 96 square foot room. While the Freedom Room lacks the style of a tiny space by IKEA, the inmates designed it to have storage and useful surfaces.  Does this remind anyone else of Sam’s “2010 Center” ideal prison in Dreaming of Psychiatric Citizenship: A Case Study of Supermax Confinement by Lorna Rhodes?

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The former director of the prison had a thought-provoking reaction: 

“The heavy, mortifying restrictions placed on furnishings and accessories… tend to sharpen the wits of the detainees, who will try to make every possible use of the objects they are allowed to keep…. I sincerely hope that Prison Administrations will consider and adopt this project to promote a ‘culture’ of prison life which, for the first time, may be determined to a certain extent by the inmates themselves.”

I find myself cringing at the idea of an inmate-determined culture, but that’s because my notions of incarceration are (thankfully) shaped more by HBO’s Oz than by personal experience.  However, I think it makes a lot of sense to consult current or former inmates when designing prisons — not to make them cozy or vulnerable, but to see what basic human needs could be addressed without loss of security.  As I write this, there are 52 comments on the Gizmodo piece. Some understand the Freedom Room as a design project, but there is also a lively debate about what living conditions for inmates should be. Some examples:

“I don’t get this. They are in prison. There should be 4 bare walls and a toilet. Why should they live in nicer housing than I do? This is insane.”

“…That being said, whether you had an accidental life altering decision or your just a person who is inclined to do bad things, you need to be punished with discomfort. This is how society is enforced and why most of 360 million people in America are not in prison.”

“Holy Hell, let’s just put everybody in a box for years and see if they come out the other side sane and happy for work and living in the real world. If you place these people in an environment that promotes penance, education and learning, this- to me- seems the better nature for how to deal with those whose lives have been so damaged by their circumstances.”

More thoughts on unnecessary gluten avoidance

I was going to respond directly to Kristen’s post, but I don’t think WordPress lets you put hyperlinks in response comments.

It’s an interesting question, worth unpacking a little. If we agree that it’s important to respect phenomenological and subjective experience, does that mean that individuals should be free to adopt any medicalized identity as long as it doesn’t cause them harm (there are no clear negative health effects of avoiding gluten unnecessarily)? This is complicated by the way that illnesses do important work of identity formation, with illness subjectivities providing potential access to valuable forms of community and social capital- particularly in the age of internet fora and support groups (we’ve looked at this a little bit in class with Nguyen). It’s a fascinating new world of bottom-up creation of categories that are simultaneously illness and empowerment- Gillick’s analysis of jogging is a kind of precursor to this new proliferation of medicalized subcultures that are only taken up by the DSM once they reach a critical mass online. Are these conditions counterhegemonic, or just another example of technologies of the self ultimately serving the interests of governmentality? Lots of good possibilities for future research here.

Just to be provocative, if you’re OK with claims of gluten intolerance whether or not there’s a biomedical justification, how do you feel about pro-ana? Or about body integrity identity disorder, the conviction that one is healthy apart from the burden of a limb that does not feel like it belongs on your body?

The bioethicist Carl Elliott (always worth reading) wrote a great essay on BIID several years ago, and pointed out that the disorder really grew only once people were able to discuss it laterally on the internet, unmediated by the medical establishment. It’s as if the discourse actually created the symptoms in people’s bodies, in a kind of Sapir-Whorf effect.

There are lots of examples of this. This American Life just did a nice piece on the strange world of ASMR, a condition (labelled and given its properly medical-sounding acronym not by doctors, but by the online community) that makes videos like this intensely pleasant to watch. Do new illness communities develop because individuals first have symptoms, and can now discover similarly-wired people on the internet, or does the category to some degree create their somatic experience?

Hope vs. cost: the biotechnical embrace revisited

Earlier this month, I posted about the unnecessary suffering at the end of American lives that is sustained through what DelVecchio Good has called the “biotechnical embrace”: a mutually constructed ideology of hope between doctor and patient which justifies pushing experimental treatments, even when they are excruciating, expensive, and almost certain to be unsuccessful.  Both the article and the piece you read by DelVecchio Good hint at hospital economics (and incentives from biotech and pharma) as partial factors driving this ideology forward- this comes up peripherally in Cohen’s work on kidney transplant recipients as well.

Last year, Memorial Sloan-Kettering Cancer Center in New York, one of the premier cancer centers on earth, chose not to stock a ridiculously expensive medication used as a last-ditch treatment for advanced colorectal cancer.  This seems like an obvious decision, since the new drug, Zaltrap, works about as well as the much cheaper (but still overpriced) Avastin.  But the act of a major hospital rejecting an expensive drug is in fact astoundingly rare; so rare, in fact, that the doctors felt compelled to write an op-ed in the Times defending their decision- and pointing out the absurdity of a system in which cost is almost never a factor.

NPR has a quick overview of the issue.  I’m posting it for two reasons: first, the last few sentences, in which the doctors admit that if there had been even a tiny increase in Zaltrap’s efficacy over Avastin, they would have felt compelled to stock it.  And second, for the comment section, in which the ideology (and ethical mandate) of hope is questioned by patients, their families, and the medical staff who watch them suffer.

Who owns HeLa?

We have mentioned Henrietta Lacks a few times in class, the individual whose cells have done more than anyone else’s in the advancement of modern medicine.  The HeLa cell line, the first “immortal” cell line ever developed, has been used to develop the world’s most important vaccines and cancer medications, as well as spurring advances in gene mapping, cloning and IVF.  But all of this was done without her or her family’s consent, and her family was unaware of the cell line until 20 years after Lacks’s death.  Now HeLa has been sequenced, and her genetic information published- once again, without her family’s permission.  This is legal, but is it ethical?

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Rebecca Skloot, whose book brought the story of Henrietta Lacks to popular attention a few years ago, has written a nice editorial about just how problematic the publication of HeLa is, and how poorly the law has kept up with the implications of advancements in genomic technology.  If HeLa shows a predisposition toward Alzheimer’s, for example, this may have repercussions for the life insurance her descendants can get.

“Be special someplace else”

Learning the social norms of public spaces, including how to interact with the variety of people you’ll meet there, is generally part of our upbringing.  My most vivid memory from before age 5 is this: walking through the dairy aisle of a grocery store with my mom, looking around, and suddenly having her grab me and hiss that I needed to stop staring. I was baffled. Staring at what? She furiously told me, “Those people are our neighbors and they’re dwarves and it’s rude to stare.” That’s when it clicked that she was talking about a short woman and her shorter son nearby, who hadn’t previously registered in my consciousness as unusual in any way. My face burned red with confusion and embarrassment (and decades as a high self-monitor ensued).

Perhaps that’s why I found this Slate essay by the mother of an autistic teenager so interesting. She cites a couple of recent examples of public behavioral conflict involving an autistic man and a child with Down’s syndrome and writes about her own challenges. Do other patrons have a right to quiet enjoyment of a meal when there is an excited autistic child nearby?  Does the family of that autistic child have a right to have dinner in a restaurant without being hidden in the back?

Amy S.F. Lutz says this:

As anyone who’s ever parented young children knows, there are two ways of sharing: taking turns or using something together. Turn-taking seems to be particularly in vogue of late, at least when it comes to autistic people in the community: Zoos, amusement parks, bowling alleys, roller skating rinks, movie theaters and purveyors of just about any type of entertainment imaginable are setting aside time particularly for individuals with autism and their families. These are fabulous programs that allow autistic children to have fun and try new activities. They also take the pressure off parents…  Philosophically, however, it bothers me: What are my children, and my friend’s children, learning about the place of the disabled in the community?

It’s an excellent question. Let me turn it to another example that may be more personal for many of us: At the university, I have had a couple of classes with a young woman with an autism spectrum disorder. The first days were the most difficult as the professor and other students learned to expect her outbursts, lack of restraint, and her harsh tone of voice. She’s very smart and often insightful, but her behavior is disruptive and has an effect on everyone in the room. Weeks into the semester, frustrated groans and awkward laughter could still be heard from distant rows whenever she blurted out a random comment. (To their credit, both professors I observed in this situation did an excellent job of trying to manage her outbursts firmly but appreciatively and to encourage the rest of the students to participate.) What should our expectations be? Are the other students learning a free lesson in tolerance and acceptance? Does the autistic student’s right to participate in the classroom take precedence over the rights of the other students, who are paying the same tuition for the class?

These aren’t new questions, and our attitudes now may be more accepting, but I don’t think we’ve reached a consensus about what is fair — or at least best, if not fair — for everyone.

Haiti, Fukushima, Chernobyl: What do we learn from disasters?

It is now two years since the Tohoku earthquake and subsequent triple meltdown at the nuclear plant in Fukushima.  Sarah Phillips, an anthropologist who has spent most of her professional life studying Chernobyl and the Ukraine, has a very thoughtful piece on how similar the two nuclear disasters turn out to be.  It’s a long article, so here’s the tl;dr:

Pripyat

“Fukushima is Chernobyl. Independent of the system (Japanese, Soviet), nuclear technology requires disregard for the public, misleading statements, and obfuscation in multiple domains (medicine, science and technology, governance). As anthropologist Hugh Gusterson notes, “The disaster at Fukushima has generated cracks in what we might call the ‘social containment vessels’ around nuclear energy—the heavily scientized discourses and assumptions that assure us nuclear reactors are safe neighbors.” Comparing the nuclear accidents at Chernobyl and Fukushima shows that “peaceful” nuclear technology is anything but.”

Fukushima

This week, in Maternowska’s Reproducing Inequities, we have also been reading about Haiti and the spectacular failures of development organizations to effect significant or lasting change for poor Haitian women.  It has now been more than three years since Haiti’s massive 2010 earthquake, and life for many Haitians is not better.  The cholera epidemic that began in the country in October 2010 continues to claim Haitian lives.  The same patterns Maternowska identifies for Haiti’s reproductive health and family planning policy have played out in the wake of Haiti’s natural and unnatural disasters: a lot of money spent very unwisely, and then a discourse that blames Haitians and “culture” for the lack of results.  We are left with the sense that Haiti, like other regions of extreme poverty, is hopelessly undevelopable, and so funding is limited to basic humanitarian interventions addressing immediate needs, rather than addressing the underlying structural factors that relegate Haiti to perpetual vulnerability to the next disaster.

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Paul Farmer and Catherine Maternowska both identify this sense of hopelessness for what it is: a disavowal, a racist cop-out, and a justification for continuing the same development strategies that fail to address the actual long-term needs of poor people, despite overwhelming evidence of their inadequacy.  The real tragedy that emerges from reading Maternowska, or following Farmer’s tremendous success in the country with his clinic and with Partners in Health, is the recognition that developing Haiti and alleviating poverty is not actually that difficult.