Still reading this, will post a summary/commentary later…

“So this gives you an opportunity to empower the individual, in the case of deCODEme, to be able to do something to better their lives.”

“A really important thing about modern medicine now is we need to empower people, and we believe that knowledge is power — the more knowledge you have about your situation, the more likely you are to make a good decision.”

The “new” rhetoric reminds me eerily of Foucault’s notion of bio-power, a group of techniques designed to ‘subjugate bodies and control populations.’ (140) Normally, I would let Wikipedia elaborate here on bio-power, but it was brought to my attention that I might be too dismissive, or even a little negative regarding deCODEme. Wikipedia’s definition would certainly force me to do this. So, to grossly oversimplify what Foucault means by bio-power and to leave room for the affirmative: sovereign power shifts from a “power over death,” to a “power over life” — where sovereignty rested in the legitimate control to decide when its subjects live, it now legitimately controls how its subjects live. [A much more in-depth discussion of this can be found here.]  My truncated definition of bio-power allows room for different species, or alternative normativities, of this “power over life” to co-habituate, in tension, with one another.

This is particularly relevant to deCODEme since they don’t explicate what would “better their [patient’s] lives” or what entails “a good decision.” Those are left up to the spectral social forces of bio-power — and this may be a good thing. By being vague and evasive, deCODEme not only tries to avoid legal trouble, but also tries to avoid being a single normative force in the minds of their customers. Therefore, in order to take a more complex stance about this update, I’m going to discuss a particular facet of bio-power which exemplifies a resistance from, rather than acceptance or complacency with, normalizing forces of biotechnology, and allows for multiple conceptions of both “normal” and “healthy.” However, this type of affirmative stance isn’t something that one can just “take,” it needs to be actively and constantly developed — in other words, “brought to life.”

Let me begin by talking about one of my absolute favorite articles on genetics, by Karen-Sue Taussig, Rayna Rapp, and Deborah Heath: Flexible Eugenics.

In the contemporary United States, LPA [Little People of America] members act within a society marked by a long-standing attachment to ideologies of individualism and free choice, which are increasingly imbricated with the intensified commodification and market orientation of the recent neoliberal era. … There is a convergence, or constitutive tension, between genetic normalization and an individualism that increasingly engages biotechnology — biotechnological individualism. From this tension, what we call flexible eugenics arises: long-standing biases against atypical bodies meet both the perils and the possibilities that spring from genetic technologies. (60)

Taussig et al. perform an ethnography of the role that genetic testing plays in the LPA community. They discuss at length one type of dwarfism, achondroplasia, which is caused (~98% of the time) by a heritable and “easily testable” dominant mutation in a growth hormone receptor gene. One copy of this gene results in achondroplasia, and two copies unfortunately results in death.

For the LPA, the “normal body” can be seen as a short-statured one (not a tall-statured one as elsewhere), so a genetic test result showing a singly dominant form of achondroplasia might be irrelevant to a decision to keep the fetus since it falls within the ideal of a normal (read: healthy) body, for that community. This is in comparison to a tall-statured community, where singly-dominant achondroplasia might be abnormal and thus undesired. These two definitions of normality co-existing, through biotechnological individualism, causes the force of bio-power to partially sublate and score itself, producing a tension that allows for multiple, sometimes contradictory ideas of “normal.”

In my next post, I’ll continue to elaborate on these kinds of normative tensions in bio-power, and discuss the biotechnological individualism that deCODEme is seeming to endorse…

This month, American Ethnography has two articles by Ashley Montagu on their front page which deal with race. They offer a nice peek into the history of ‘race’ concept in anthropology, and show that questioning the validity of race has been a long and constant part of the social sciences. What’s relevant to this blog is the particular way that Montagu proposes for getting past received notions of race.

In short, it is our opinion that taxonomies and terms should be designed to fit the facts, and not the facts forced into the procrustean rack of pre-determined categories. If we are to have references, whether terminological or taxonomical, to existing or extinct populations of man, let the conditions as we find them determine the character of our terms or taxonomies, and not the other way round.

Since what we are actually dealing with in human breeding populations are differences in the frequencies of certain genes, why not use a term which states just this, such as genogroup, and the various appropriate variants of this?

Reading this today, we’re sure to interpret and react to this much differently than readers in 1962 may have for many reasons, not the least of which are the changing definitions of and relationships we have with ‘gene’ and ‘race’. It is interesting to see how, at that moment in time, the new science of genetics must have looked like a way to get through the divisiveness associated with the idea of race as Montagu knew it. At the same time he was well aware that although valiant attempts may be made to pour new wine into old bottles, too often the shape of the bottle remains the same.

Taking a cue from one of Jon’s unpublished posts, I’ll start with deCODE’s explanation of what they do.

What is deCODEme?

deCODEme will help me:

1. Discover my gene profile
2. Discover the origins of my ancestors
3. Compare two genomes
4. Compare my physical attributes and genetics

1. Discover my gene profile

Says deCODE:

Over the past decade, we at deCODE have analyzed the genomes of hundreds of thousands of people. […] We will analyze your genetic information, store it securely, and provide you with updates on your genetic profile as new knowledge becomes available in the field.

Analyze?

The tissue sample that you provide to deCODE is analyzed using the “Human1M DNA Analysis Beadchip.” According to the press release the BeadChip is “the Industry’s first single-chip DNA analysis solution to contain more than one million SNPs.” More unfamiliar words… “BeadChip.” “SNP.” I gather that the “1M” refers to the “1 million SNPs”, whatever those are.

“Beadchips”

BeadChip is Illumina’s brand name for the bead array technology. The ‘beads’ in a bead array are microscopic things treated with dye and attached to an optical fiber. Depending on the treatment of the bead, it reacts differently to different sequences of genes, and this reaction can be optically measured. The bead arrays can be tuned to detect certain parts of DNA, which in Illumina’s case, have been worked out in co-operation with deCODE.

SNPs?

Wikipedia tells me that ‘SNP’ means “single nucleotide polymorphism.”

A single nucleotide polymorphism (SNP, pronounced snip), is a DNA sequence variation occurring when a single nucleotide – A, T, C, or G – in the genome (or other shared sequence) differs between members of a species (or between paired chromosomes in an individual). For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide.

A ‘snip’ seems to be a single change of letter in the familiar strings of As, Cs, Gs, and Ts that many of us will recognize as representing a DNA sequence. So, for example, if a portion of your DNA reads “GATTACA”, and someone else’s says “CATTACA” at the same place, then this may be a SNP. There’s also a statistical component to the definition. A SNP is only a SNP if the variations (or ‘alleles’) occur in about 1% of a population. (This begs the question, “Which population?” which is addressed below.) Presumably, if I am the only one in the world with “CATTACA”, then it’s not a SNP, but if (maybe) 60 million also have “CATTACA”, while the rest of the world’s humans have “GATTACA”, then it’s a SNP.

This presentation explains that there are probably between 1.6 to 12 million SNPs in the human genome, out of approximately 3.2 billion base pairs (the letters) in the human genome. These SNPs are supposed to represent one of the main sources of genetic variation among humans. The Illumina chip measures variations at 1 million of these points, and produces a genetic profile. So what deCODE gives you is not a ‘complete’ genome of several billion As, Gs, Cs, and Ts, as some people (me) might have expected, but more a listing of answers to 1 million genetic ‘questions’ that deCODE and Illumina thought it was worth asking.

These 1 million points were selected by deCODE and Illumina using their powers of intelligent SNP selection (pdf link.) deCODE and Illumina start with data that associates the risk of disease or frequency of a physical trait with particular SNP variations. They then do some statistics using data derived from more sophisticated equipment to determine how these variations can be most efficiently measured. Out of the millions of potential SNP choices, some are designated as “tag SNPs” which are meant to be useful stand-ins for other SNPs. From what I can gather, tag SNPs are determined through some kind of statistical analysis that shows Illumina and deCODE which differences matter the most (“high information content”), and which are likely to mean the same thing (maximum “genomic coverage”.) The ‘differences that matter’ part was determined by setting a threshold for the occurrence of the dominant allelle (the more common letter) at 95% within a certain population. Illumina used four populations based on ethnicity (“Caucasians in Utah, Han Chinese in Beijing, Japanese in Tokyo, and Yoruba in Ibadan, Nigeria”) to find out which SNPs fit this criteria. (This begins to answer the ‘which population?’ question for the SNP definition above. The answer is surprisingly close to “whoever happens to be around!”) “Genomic coverage” is achieved again through statistical analysis that looks for any SNP variations that occur together often enough to be considered one group, or representative of each other. These are both essentially strategies for deriving useful genetic information using a simpler and more economical chip design.

2. Discover the origins of my ancestors

deCODE will provide you with a data file that contains information about all 1 million of your SNPs, but their main service is in giving you easy access to what the data ‘really means.’ deCODE updates their database with ‘reliably confirmed’ findings to refine their interpretation of your SNP profile. One part of their service promises to allow me “to virtually reconstruct the geographical distribution of your ancestors back hundreds or even thousands of generations.”

What gene chip information do they use to determine ancestry and geographic distribution? There’s a hint on the same page.

Through an intuitive interface, you will be able to view how your mother and father and their ancestors contributed to your genome and how much of your genome is derived from people from Africa, Europe, or Asia.

If we think back to the Illumina press release, we might think that by “Africa, Europe, or Asia”, they mean “Ibadan, Utah, Beijing, and Tokyo”, but let’s leave this aside for now. Their FAQ says:

You will be able to use the results to tell yourself about your ancestry in the broad sense of ethnicity, but not specifically to trace your exact geographical origin. Where other services are generally only using sex specific transmission factors (mitochondrial and Y chromosome markers) our results take the whole genome into account. We compare your genetic similarity with over 50 ethnicity groups and we also analyze your ancestry down to individual chromosomal regions.

So their analysis of ancestry is not based simply on the four-way Utah-Ibadan-Beijing-Tokyo ethnic distinction, but on more than 50 ethnicities. In fact, if you log in to deCODEme and search for friends, alongside people claiming to be Nature Genetics editor Myles Paxton and deCODE CEO Kári Stefánsson you’ll come across long-lost buddies like “Adygei, A reference individual for the Adygei population” and “BiakaPygmy, A reference individual for the Biaka Pygmy population.”

As both Jon and I have mentioned in previous posts there are interesting online communities made up of people enthusiastic about genetic genealogy and using services like deCODEme to trace their roots. deCODE’s website doesn’t do a great job of explaining exactly how they figure out ancestry based on a person’s genetic profile, but I suspect that it’s largely based on measuring similarities in SNP variation patterns with ‘reference individuals’. Maybe they send people out to gather samples from all over the world. This post at the RootsWeb genealogy site suggests that deCODEme uses data from the International HapMap Project.

The International HapMap Project is a “multi-country effort to identify and catalog genetic similarities and differences in human beings.” Groups from Japan, the UK, Canada, China, the US and Nigeria are involved in various capacities (“community engagement”, “sample collection”, “analysis”, “genotyping”, etc.) to put together analyses of ‘haplotypes’. The groups that are participating in the project seem to explain why Illumina and deCODE chose the ethnicities they did to select tag SNPs for their DNA chip. This project is probably also where they are getting their reference individual data from.

What is a ‘haplotype’?

The HapMap website explains:

The development of the HapMap will enable geneticists to take advantage of how SNPs and other genetic variants are organized on chromosomes. Genetic variants that are near each other tend
to be inherited together. For example, all of the people who have an A rather than a G at a particular location in a chromosome can have identical genetic variants at other SNPs in the chromosomal region surrounding the A. These regions of linked variants are known as haplotypes.

This concept sounds very similar to the “tag SNPs” that deCODE and Illumina use in their DNA chip design, and are probably equivalent for some purposes. However, where ‘tag SNP’ was a concept derived from statistics, ‘haplotype’ is perhaps best understood in the context of heredity. The HapMap site goes on to explain that haplotypes are the product of histories of sexual reproduction. In short, haplotypes are the bits of genes that are passed from parent to child, and are therefore shared between siblings, and over time, by local interbreeding populations. Haplotypes can then be clumped together in ‘haplogroups’ (“a group of similar haplotypes that share a common ancestor with a single nucleotide polymorphism (SNP) mutation”) which can be associated with certain ethnic groups, based on historical migration data and other non-genetic information. It’s important to note that haplogroups don’t define ethnic groups using genetic information, but associate genetic profiles with certain modern-day ethnic groups. deCODEme is not clear on this point, but thankfully, competitor 23andME explains things a bit better in this white paper. The important bit is their definition of “Ethnic group”.

Ethnic group: Any set of individuals affiliated with a socially-constructed label, where that label indicates sharing of a set of cultural characteristics. Individuals may have more than one ethnic identity, and an individual’s ethnic identity may change through time. Because ethnic identity has developed in the context of human migrations, ethnicity is sometimes correlated with patterns of genetic variation.

It’s an interesting thing they’ve done here, which is to de-emphasize any causal relationship between genetics and ethnicity. It acknowledges that ethnic identities can be multiple and changing, and that they are not biologically determined, but it still maintains a certain, albeit indistinct, relationship between ethnicity and genetics. The connection between haplogroup and ethnicity (or culture) is made using historical patterns of migration and segregation as a proxy.

What are the haplogroups that people are interested in?

This is maybe where things start to get really interesting, and I’ll continue writing about this in a few days.

The episode uses testosterone as a thread to tie together stories of uncomfortable encounters with masculinity at the workplace, in the home, and in the mind.

The entire episode is worth listening to, but two chapters stick out. One is the story of Griffin, who was born a woman and during college started taking enough testosterone for “two linebackers” and started living as a man. He narrates the changes that take place in his mind and body, and feeling suddenly uncomfortable with the unfamiliar experience of being aroused by everything, even a photocopier.

The other chapter I want to highlight is an experiment done by Ira Glass and the other staff at the show. They each agree to have their testosterone levels measured, they talk about who they think will have the highest levels, and give personal reactions to finding out their own levels, and who ‘won’. “This whole thing is going to lead to heartbreak, somehow”, says one of the producers. The chapter is built around the predictions of testosterone rankings based on the social knowledge that the staffers had of each other, and the data extracted from their hormone measurements.

Personal genomics sites like deCODEme emphasize that more self-knowledge is better. Whether it is eye color or Alcohol Flush Reaction or ancestry, the marketability of the service depends on being able to make the case that total genetic self-knowledge is possible, at least in theory, and that having this knowledge can improve quality of life and make us all happier. But there is another dimension to this, which can be seen in how the This American Life staff react to the testing results.

The man who comes out with the highest testosterone levels is “a gay Canadian Jew living in Manhattan” which messes with a lot of preconceptions that the staffers had, and inspires the women in the room to cheer, which both mocks the test’s claim to truth and pokes fun at the damaged masculinity of the male contingent.

While the self-knowledge of personal genomics is undoubtedly a large part of its appeal, I think that, like the TAL staff and the testosterone tests, the attraction and the freeplay in gene testing is in the way that knowing something ‘for sure’ simultaneously opens up a space where anything could happen. The interplay of gene and circumstance, of molecular biology and molar ecology make one only crudely and artificially separable and distinguishable from the other. The gene or the hormone are like foils to the “real I” in a narrative of identity, in that their power and meaning lie in the way they define what could or perhaps should have been. The idea of the gene can only ‘ring true’ because it is the truth that can never be completely contained within itself, but only with reference to the “real I”, and because it troubles the “I” as it resonates.

What brings me to this blog is the slow unraveling and decoding of impermeable DNA as the “master molecule,” and its re-winding and re-coding into something a bit…squishier.

Some past research has shown that DNA isn’t a biological master at all; it is only a small element in a larger organismic system of parts. Newer research into epigenetics is (slowly) making headway in this direction, but the metaphor of “master molecule” still remains tightly bound with epigenetic discourse, and with popular discourse about the gene.

DeCODEme offers us a chance to experiment with how this metaphor is both (re)constituted and (re)imagined by the users of the service. One example of this which Grant has already posted is deCODEd people who use their genetic profile to form “r1b pride” groups. This is particularly interesting because biologically-justified racism has been around for quite a while, and this appears to be more of the same. The rhetoric has changed, shifting from race/ethnic group to “haplogroup,” sterilizing its implications in scientific language. But what else makes it different from its previous incarnations? To say that it’s “all in the genes” might be a bit too ironic for this blog. More on this later…

In other news, deCODE just laid off 60 people, out of its workforce of 390. Apparently, business is bad. You can help by donating so we can contribute to their bankrolls (and by voting for Grant)!

The most recent podcast profiles German historians Barbara Duden and Silja Samerski, who talk about the cultural meanings of genes.

For Duden, the cultural power of the ‘gene’ has to do with its association with heredity and risk.

Duden says, “We spoke with the woman who sells sausages, because she was explaining over the counter to the client: she said, “Oh! The chromosomes were as long as this!” and she demonstrated with her fingers the lengths of the chromosomes. She had genetic counseling, and we were interested in what was left with her. And what we found out is first, genes stand in for how you are in your very flesh. Because, you are the daughter of this mother and grandmother, and so on. So she would say, “I can see [in mychildren] this is the genes of their father, how they sit there, they sit like him, or one daughter is unruly. He also in his childhood was unruly! This is his genes. So it was a synonym for saying, this is how she is.”

On the ‘risky’ character of genes, Duden talks about a women who describes the gene as a ‘capsule’ which will unpredictably open and release the danger inside.

One of Duden’s main points is that, within the semantic scaffolding of heredity and risk, there is a tremendous ‘lack of definition’ that gives the idea of the ‘gene’ its power.

As we look more closely at deCODEme and the communities that have appeared around it, I’ll be interested in seeing how this lack of definition provides opportunities for different people to forge meanings for themselves out of ‘genetic’ scaffolding, and what resources are available to them as they do this.

(There are signs of this in the nascent (still-born?) “R1b1c Pride” movement happening at the above community, but more on this later…)

While I suspect most of the 40 or so hits that have come to the page so far are people who know Jon and me, I thought it would be useful to give a brief introduction about why I personally am interested in having someone deCODEd.

I am not really bio-curious. I dropped biology in Grade 11 because it was too ‘wet’ and ‘sticky’. Since then, I’ve warmed up to it a bit more, but it still isn’t in my main areas of interest.

The reason I am interested in deCODEme is not so much about the technoscientific side of things, but in the ways that people view and understand deCODEme. What kinds of expectations do people have for deCODEme? Are they interested in the medical information? Do they want to find out where their ancestors came from? Do they want to get into personal genomics before anyone else?

The other main reason I’m curious about deCODEme is the way they choose to frame and present themselves and their genetic profiling services. What do they promise to provide? What kinds of caveats do they state? I think it’ll be interesting to look for signs of how they are reading and attempting to respond to what they believe are the expectations of their clientele.

I tend (especially lately) to try and find the ‘norm’ or ‘baseline’ that is assumed, especially when they involve things like race and ethnicity, so the third area that I’m interested in is how ideas like ‘race’, ‘ethnicity’ or ‘heritage’ are used within the context of personal genetic profiling. This is a big area, and should be fun.

I’d like to end by saying: vote for Jon.

Last November, they introduced deCODEme, “the world’s first service to offer a comprehensive genome scan and online analysis of your unique DNA profile.” For just $985, you can get a personal genetic profile that will tell you about what diseases you’re likely to develop, the genetic basis of your physical traits, and your ethnic background and ancestry. It’ll even let you compare your gene profile by friending people who have also signed up to be scanned.

deCODEme uses DNA chips to scan swabs taken from your mouth to produce these profiles. Other companies, like 23andMe and Navigenics have popped up to do similar things.

We want to think about what the appearance of services like these means for how we think about life, health, personhood, and science and technology. We want to place ourselves right in the middle of the ‘personal genomics revolution’ as consumers, citizens, and cultural analysts. Most of all, we want to document and discuss the process of getting a personal genetic profile.

This blog will be a place to do all of this. The two of us, Jon and Grant, will be the administrators and (hopefully) regular posters, but we want anyone who has an interest in this to comment or write or suggest posts.

Why are we doing this?

You may have noticed the big “Donate” button on the main page. As you may have guessed, we do not have the $985 to buy a deCODEme profile or the $999 to sign up for 23 and me.

Just as we are asking everyone to contribute ideas, we’re also asking visitors to make a small donation to raise enough money to get someone’s profile made on deCODEme. We don’t know who yet (I vote for Jon).

Think of this as ‘swarm-funding.’ We are both graduate students in the social sciences. One good thing about the social sciences is that they don’t take a lot of money to do. One bad thing about them is that there aren’t that many places that will give you the little bit of money that you do need.

This blog is an experiment in getting a small project like this done using the ‘many small donors’ approach.

So read, write, comment, and give us your coffee money.