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.
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