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.

What it means to have a culture-bound syndrome

If you tell a distressed woman that her suffering is a culture-bound syndrome, perhaps citing examples that she would find bizarre, you shouldn’t expect a pleasant and understanding response. It sounds dismissive, like saying it’s “all in her head” or a manipulative tactic to garner sympathy.

There have been a flutter of articles about culture-bound syndromes in the wake of the DSM-5 publication, and a piece on the The Guardian (Are mental illnesses such as PMS and depression culturally determined?) seems to have inspired this one on Jezebel and then this one on Slate.  There are many good links in the articles and I recommend clicking if you’re interested in the topic.  But what comes through to me in some sections of the writing and definitely in the comments is the attitude that if an illness is culture-bound, it’s not real.  Many of the comments are defensive, daring others to say that what they’re experiencing is a lie.  This can be complicated by a mainstream understanding that something “cultural” is something shared, yet (to use the main example from the articles) not every woman in Western cultures has PMS or experiences it in the same way. Does this mean that those who do are exaggerating for effect or making it up?

No.  However, we start to wade into the swamp of the “really real” where I so often find myself lost. I know I’m not alone in struggling to understand what it means for someone to have a culture-bound syndrome and I’d make a mess if I tried to unpack a lot of theory.  However, I think it’s a common mistake to see these syndromes as only a way of expressing emotions that don’t have another path of release. I’m more inclined toward the notion of local biologies, where societal and cultural expectations play a role, but so can genetics and epigenetics, diet, and environment.

We do a disservice by pointing out the culture-bound syndromes of others without inclusively evaluating those that might be our own (not at higher levels of study, but certainly in lower levels and mainstream articles). It wrongly puts Western culture in a position of rationality and superiority, smiling at the quaint confusion of others, rather than questioning our own socially accepted conditions that are proving to be non-universal and WEIRD (Western, Educated, Industrial, Rich, and Democratic).

Surgery as prophylaxis

The world buzzed yesterday with the news that Angelina Jolie underwent a double mastectomy to greatly diminish her risk of breast cancer. I’ve been a fan for a long time, but she has my respect for the editorial she penned for the New York Times revealing her procedure. It’s intelligently written, explains the tests and procedures she went through, acknowledges other treatment options and choices, and thanks her loving family. It can be difficult to understand having such a dramatic procedure done with no sign of current illness, but as one woman who made the same choice put it, “If someone said your flight was 86% likely to come down, you wouldn’t get on that plane.”

With better knowledge about risk factors and a decrease in the cost of  genetic testing, an increasing number of people are proactively seeking surgery with no evidence of disease.  A presentation at the American College of Surgeons Annual Clinical Conference last year analyzed data on this trend from 2004-2009.  The number of hospitalizations related to genetic susceptibility increased 16-fold during that time, and prophylactic surgeries more than doubled. Insurance plans are increasingly covering these surgeries as a cancer risk reduction strategy based on family history, pre-disease symptoms, and/or genetic testing. This policy sheet from provider Priority Health is one example; it describes criteria not only for prophylactic mastectomy but also removal of the ovaries, stomach, uterus, or thyroid.

Jolie isn’t the only public figure in the news recently for surgery to reduce illness risk.  New Jersey governor Chris Christie revealed last week that he had undergone bariatric surgery in which a band is used to section off part of the stomach, reducing the quantity that can be eaten at one time. Though some have questioned his motive, Christie made this decision at age 50 and while morbidly obese, at increased risk for heart disease, stroke, some cancers, and concerns from joint problems to sleep disorders. Though the surgery isn’t a cure-all (I was told recently by a specialist in this area that more than 50% of the procedures now performed are revisions to previous surgeries; not because of a problem with the surgery, but to increase effectiveness for a patient who has stopped losing or started regaining weight), Christie has a good chance of dropping enough weight to make a significant difference in his risk of disease.

There are many issues to consider here and many frameworks that can be applied, but I’ve been thinking about identity. People who undergo major surgery as a risk reduction strategy will wear the scars and/or have lifestyle changes forever. Their lives are different because of a disease they feared, which becomes part of their embodied identity nonetheless. I think there must be an identity shift that precedes that, from seeing oneself as healthy to envisioning the body as vulnerable and imminently diseased.  The presentation mentioned above noted an association between surgery-seeking and level of anxiety about disease. I wonder if that anxiety marks an identity borderline, from a woman who sees herself as fine but at risk and chooses vigilance and lifestyle alterations, for example, and one who sees herself as having a disease that hasn’t yet surfaced and seeks surgery to remove tissues already considered unhealthy.

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?

Image

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.

A Cure for Violence

Hi everyone:

I hope your weekend is going fan-tastic! For my first post, I found a story on violence and an age-old question tied to it… is is possible to stop violence before it occurs? Is there a cure for violence? I find it utterly fascinating, especially coming from a Sociology background. I hope you enjoy it.

http://www.bbc.com/future/story/20120913-searching-for-a-cure-to-violence