Nature article discussing ethics of prenatal genetic testing and fetal full genome sequencing

Good Science/Bad Science news feature by Geoff Brumfiel in Nature vol 484, 26 April 2012.

http://www.nature.com/news/controversial-research-good-science-bad-science-1.10511

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Culture “as” Disability

Here is the link to the article that I was talking about in class.

http://www.jstor.org.ezproxy.cul.columbia.edu/stable/10.2307/3195676?origin=api&

If you can’t get to it with this link, here is the bibliographic reference.

Culture “as” Disability
Ray McDermott and Hervé Varenne
Anthropology & Education Quarterly , Vol. 26, No. 3 (Sep., 1995), pp. 324-348

Enjoy and good luck with your papers!

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Diets According to Blood Type?

What? Yeah, I found a link that basically lists diets according to a person’s blood type. I don’t know what to make of it besides to think it’s really bizarre. Here’s the link:

http://dadamo.com/

Yeah……………

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Race-a-base

 

While reading Chapter 9 in Genetics and the Unsettled Past,  I thought about the variety of directions my post would take. Would it be the actual methodology of admixing? Or, possibly the populations targeted in admixing? What about the application of admixing, both commercially and in the medical profession? How about all of these topics? Frankly the more literature I read on these topics the more I think…why create a database based on race (race-a-base?) in the first place? What do we have to gain creating a database that would indicate disease patterns by race? Why the decision to classify genetic disease patterns by race? Why not investigate family histories of disease? To me is seems that the classification of race has so much inherent variability that it is a poor basis from which to draw conclusions about genetic disease patterns. That said, I do understand how it can be chosen as a basis of correlating genetic disease. If one were to come to the conclusion that race can predict disease, sit back and watch the medical profession’s marketing machine swing in to full tilt. I would liken it to penguins following each other into the ocean.

I have some issue with the connection between race and the causality of disease. Let’s explore the methodology of admixing. On pg 152, it describes “…admixture mapping algorithms include statistical tests to assess how closely the European American and West African “populations” correspond to the “true” ancestral populations of African Americans…these algorithms that are used to validate the mapmaking process have themselves been designed based on statistical formulas for population genetics that estimate measures of genetic drift.”. Further these models are based upon a small number of contemporary samples (Rajagpalan and Fujimura, 152). To me it seems the benchmark for these mapping algorithms is suspect. The benchmark is not even real data. That alone should cause scientists to seek out alternate benchmarks that can have a stronger body of data from which to be able to support it. Yet the push to classify by race goes on, even in the face of the fact that ancestry and race are used interchangeably…or as the authors describe it, “…different, but often superimposed (155)”.

Also another point I wanted to raise is the example of prostate cancer. Early detection can go a long way in patient survival, and more effort needs to go into the application of early detection in patient treatment. However, it also takes a responsible physician to be able to interpret the results generated from a commercial genetic test such as the one offered from Proactive genomics. I do agree with the point raised that benign tumors may be subject to unnecessary treatment, possibly rendering the patient worse off than before any treatment had been started. Frankly, I do not think any physician in their right mind should trust any sort of direct to consumer testing, as the controls are not likely to be as robust as they should be (especially not for $300!). This is where science needs to step in and refine the process of treatment based upon genetic outcomes. This technology can be developed into treatment modalities with very high degrees of utility. Maybe we can take some of the brilliant minds at work in admixing and direct them toward this kind of initiative.

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The “American Mutt” and the Rearticulation of Race

Perhaps the most annoying phrase to hear in any discussion of heritage usually comes from white people who state with reckless abandon “Oh, I’m just a mutt”. Keeping within the sociocultural and historical context of the United States, this is arguably one of the most problematic statements that is articulated for two specific reasons that are very much tied to each other: 1) this statement is usually stated with the alienation of Blackness in mind, as if to say that only those with a majority European heritage are allowed to be “just a mutt”, which suggests that 2) “mutt-ness” and American-ness are synonymous, making it an exclusively white reality. To be a mutt is to, for example, be an admixture of English, Irish, Scottish, German, perhaps French, perhaps some Nordic country, even some Italian, with a dash of Native American (in the form of your greatgrandmother being an “Indian Princess” or descended from Pocahontas) for good measure. In my experience, I’ve never heard a Black person refer to themselves as a “mutt”. This isn’t to say that it doesn’t happen, but Black “mixedness” seems to be a different mechanism.

Why is this important? Well, in terms of genetic genealogy, it seems to inform how people configure and reconfigure their own identities and which direction they search. This typically means that, specifically with genealogy tests that trace back to country or countries of origin, white people look towards Europe while Black people look towards Africa. While I suspect that Black people are not necessarily opposed to also looking towards Europe for identity formation, I wouldn’t be surprised if white Americans forgo the genetic journey to Africa. This is largely due to the commonplace notion that Black Americans, being descended from enslaved Africans and whose identities are and were formed by this cultural/historic context, have a decent likelihood to be “mixed” in some capacity. Moreover, due to the historic convergence of race as a social and a biological category, Blackness in the United States is a very vast categorization due to the “one drop” rule, which is why both of my grandparents are considered Black (well, colored…this was Jim Crow) despite my grandfather’s ability to pass as a “white” man. In this context, “multiracial” and “mixed” are mutually exclusive, although, for many, they aren’t necessarily.

This actually brings me to the extremely problematic practice of forensic DNA phenotyping. Though Pamela Sankar, in her article “Forensic DNA Phenotyping,” does showcase why this is a very precarious policing tool, I don’t understand why it is used in general. In regards to cultural relevance, it seems that people are shocked and stunned every few years by the miraculous genetic craziness of a birth (or discovery) of twins where one is “Black” and the other is “White”. While these cases are presented as rare, the notion that “genes are weird” should, for all intents and purposes, should be the takeaway message. Also, considering that “race is a social construct”, how is it really possible to pinpoint highly racialized traits based on “racial percentages”? All while based on a technology that isn’t failsafe? It really does not compute. With the Night Stalker case, Sankar really explores this by illuminating the elderly woman’s comment about how “inaccurate” the sketch was since it didn’t match up with what she thought someone with Caribbean ancestry would look like. Therein lies the issue: social designations of race do not necessarily match up with either personal and/or “genetic” designations of race.

With that, I come back to this idea of the “American Mutt”. Genetic genealogy has the ability to complicate this concept. While it’s easy to accept that Blackness, though completely entrenched in American institutions and racial ideologies, is a social category, to assess Whiteness, “mutt-ness” with the same regard is most difficult. But what would happen if, say, it was discovered that a nice chunk (not a majority, mind you) of white Americans has some recent African ancestry? How could/would this notion of “mutt-ness” be changed? Would this group of people lose their Whiteness? Would we regard them as “mixed”, in the same way we do Black Americans? The answers to the last two questions, I can say with some certainty, would be no. They would live to be white another day. It does prove a very important point, though: race is an every shifting category and genetic technology is only reifying how it is articulated. Not to be overly pessimistic, but it seems another wave of the “biologization of race” is upon us, whether intentional or not. I’ll just settle for not hearing the phrase “mutt” to describe an ethnic makeup forever and always. That’s definitely an option.

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Who am I? I am not my race

The following two quotations (reiterated through out this weeks readings in various forms) practically sum up my frustration with the entire discourse of race:

“…leaders of the Human Genome Project concluded that humanity is genetically 99.9 percent the same and that race is indeed a social construct and not a biological one” (pg 81)

“Lee raises a more important question, ‘if there is no genetic basis for race, then why do large scale mapping projects continue to use racial categories in identifying research populations?” (pg 93)

Wailoo’s introductory essay, “Who Am I?”, emphasizes an important point about the effects of genomics on our self-reported identity when he states, “the argument at the heart of this captivating made-for-TV drama was simple and shocking: that none us can truly know who we are without genetic analysis” (page 14).

So then, once we consider what genomics have told us about our genes, I can conclude that who I am, is an individual 99.9% genetically similar to the next, or I could focus on all of the other ways of identifying myself that a genetic analysis could never inform me of.

Perhaps I am biased, in my extreme dislike for the concept of race, given that I am part , part Hispanic, part Belgian and “…research has shown that the predictability of the link between a particular allele and self-assigned race is even more likely to be wrong among individuals from admixed populations, meaning that their family history draws from two or more ancestral populations” (pg 108), or that “for these reasons, although there is a relationship between AIMs and popular categories of race, it is neither predictable or robust” (pg 108).  It is pretty obvious to see how little I can identify my identity with the concept of race when in respect to matching probabilities, “problems were even greater for the ‘heterogenous assemblage’  known as ‘Hispanic’ which was perhaps ‘the worst case for calculating reliable probabilities’ ” (pg 120).

How can my identity be tied to my race when there are so many present social forces, personal history and geographical history related to who I am today? What can genetics really tell us without history (which I applaud Genetics and The Unsettled Past for recognizing)? One individual can share a certain “percentage” of European DNA strands with another but if the former identifies as African-American, the implications of how that “European DNA” got there is completely different from the story of a self-identifying European (just like Eva Longoria is not exactly Yo-Yo Ma).

I am not convinced that genes represent my identity much like I am not convinced that the concept of race is not purely a social construct. I am not aware of the percentage, but given both my paternal and maternal lineage I would conclude a large percentage of my DNA would include “White” strands.  Yet my skin is brown, and socially, that has attributed a lot more to my daily life, past and future accomplishments, than the invisible percentages of my ancestral lineage. Why were police shocked to have DNA testing inform them their “white looking” serial killer was  African-American? Because we socially construct what being African-American means you are supposed to look like.

We see over and over again in Genetics and The Unsettled Past that AIMs can only be matched to probabilities, that probabilities work with large numbers not at the individual level and most importantly, that there seems to be some selection bias in the way that these racial reference groups are constructed; “For example, Cambodia or Vietnam were not ‘chosen’…to represent Asia, nor was Sierra Leone for Africa, because HapMap organizers did not have relationships with anyone there…” (pg 94).

It seems the very technology being used to continue to identify race as something at least somewhat genetic or biological is also working against it self. If race is the color of my hair or my eyes, then what “race” will a “designer baby” be when his/her mother chooses to play around with these physical features. Can the color of a designer babies eyes really tell you anything about their ancestry, their personal history or “who they really are”?

I understand the importance of history, the need to know where we came from and/or who we came from. But we don’t seem ready to adequately handle this information. We don’t seem to understand that we are only talking about .01 percent of our genes. We don’t seem to understand that there still exist more within-group differences in these racial groups of Black, White and Asian than there are between-group differences.

What about the fact that gene expression is altered by environmental interactions? I agree, “..we’re not prepared to deal…when someone does find a gene that does affect a trait of high interest that’s not medical perhaps but sort of behavioral, and that gene is not equally represented across different ethnic groups.” That will be the day we glorify racism.

Racism in an uphill battle. The concept of race is, wildly not scientific. Why do we continue to focus our attention on the .01 percent?

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“Classifying classifies the classifier”

I wish I had been eloquent enough to come up with the sentence that is the title of this blog posting, but I took it from Priscilla Furgeson – French studies extraordinaire. However, I found it incredibly fitting since this anthology brings together many of the voices that have a say on how DNA has affected their personal genealogical history, state racial classification, and medical/health implications. Because of this, I see that different individuals and institutions highlight the fears, hopes, choice, and benefits of DNA differently. This is seen in Keith Wailoo’s personal narrative of his ancestry, Canada’s reconstruction of census racial, genetic information about criminals, etc.

I think that Peter Chow-White’s article clears up this quite nicely for me. After all, genetics is very much like race; race as information allows for us to make of it what we want—a form of inclusion into a past, a culture, at-risk health group etc. Cow-White’s article made me realize that certain information is dangerous in uninformed, bigoted hands. However, we should not stop the discussion, it seems that there has been a mishap in communication—sociologists and anthropologists do not want to make scientists and doctors politically correct, we want them to keep in mind that the information will be watered down, filtered by media and it will have a social significance after all. Because of this they have to be careful in what information they are promulgating. This particular point reminded me of an old New York Times article that is about a doctor who is self proclaimed as  “Racially Profiling Doctor” (http://www.nytimes.com/2002/05/05/magazine/i-am-a-racially-profiling-doctor.html?pagewanted=all&src=pm), she also wrote a book called “PC M.D: How Politcal Correctness is Corrupting Medicine” so you get where she’s coming from.

This is why I loved Reanne Frank’s article so much– she openly criticizes scientists who say they are above being “politically correct” to service science and are martyrs to the social sciences because they have to keep their racists information under wraps even though it might save lives and make the world a better place (sarcastic tone here).  What Dr. Sally Satel and these “brave scientific martyr-pioneers” have to get through their head is that they must acknowledge that there is a social consequence to their practice, and that they themselves are part of a highly social profession. Because of this, the “forbidden knowledge” is not really forbidden, but rather it needs to be approached in a manner that has be more objective than science itself—the irony is that for natural science and doctors to truly be more objective, they have to reference social science, to acknowledge that they are NOT working within a vacuum and that population differences are a product of the social past as much as the biological past.

Overall, if doctors and scientists want to continue their work in servicing our population they have to understand that there are social constructs that are social realities and in turn affect biological differences. There is no real compromise—recognizing these two are not mutually exclusive.

Individual and institutions will use genetic information as a tool. It will either embellish and help a genetic past flourish, or it will be a source of contention between powers and deepen the divide between these. DNA information in itself is not harmful, but rather, it is a source of information that can be utilized into uplifting information that enriches our pasts (individual or community-wide) or it can plant the seed of further miscommunication between those who have access to resources and those who do not.

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Selling the scientific soul

In my blog comment and during class last week, I argued that science was attributed the characteristics of authority and objectivity primarily by social actors outside the field of science. I also claimed  that very few scientists believe in scientific ‘truths’ and that they, in general, “carefully account for caveats in their studies…”.

Applying Whooley’s mechanism of knowledge advocacy to the hard sciences, I agreed that outsiders engaged in advocacy were often powerless in their attempt to penetrate or speak the “official” language of science through the discipline itself, meaning the hard sciences continue to reside behind a boundary that is non-porous to those outside the field (Whooley, 2008). Instead, scientific debate and disagreement is limited to those who can speak the language of science and have proven themselves worthy to do so.

At the time, I was fully aware that my comments appeared somewhat naive, and I was keen to develop these ideas further to capture some of the shades of grey that undoubtedly exist surrounding these scientific ideals.

“Genetics and the Unsettled Past” has enabled me to do just that. Confronted by accounts of self-interested scientists preaching from the pedestal of objective authority, and presented with Reanne Frank’s insightful essay regarding the “forbidden knowledge” argument in Chapter 18, I realized that a revision of my previous statement was certainly in order.

Frank defines “forbidden knowledge” as “the idea that there are certain things that we should not know, because the knowledge has been obtained by unacceptable means, the knowledge is perceived as too dangerous, or the knowledge is prohibited by religious, moral, or secular authority” (p.316). Like the ‘objective’ historians described by Whooley casting out criticisms based on their subjectivity, some geneticists have been observed to adopt this type of language when their methods or findings have been challenged. These scientists ascertain their own authority and objectivity by actively asserting that such criticisms are subjectively and unscientifically “rooted in fear” (p.316).

The use of this narrative draws a line in the sand not only between scientists and non-scientists, but also between scientists within the field. Frank describes the dichotomy of “brave scientific martyr-pioneers” pitted against “politically correct” scientists who are “too afraid to accept the evidence” (p.317). This artificial boundary precludes the opportunity for scientists to fight “objective fire with objective fire” through informed scientific discourse. Instead, those labeled as subjective and politically motivated are thrown out of the ring before the battle has even begun.

While the statements I made last week certainly appear idealistic I want to express that they are not entirely baseless. I myself am a population geneticist but of wildlife rather than people, and as I mentioned in class this does seem to make things much less complicated. Scientists in my field take part in rigorous debates about the methodologies used to define populations (and species) and the general understanding is that life (both in terms of evolution and diversity) exists on a continuum upon which we, as scientists and as humans, place arbitrary boundaries in order to classify “things”. Underlying all of our work is the acknowledgement that, given a different set of population-level assumptions, our results may turn out very differently.

As I was reading Frank’s essay I started to question why there would be such a disparity between geneticists working on people versus those working on animals. We should all have received the same types of training in underlying evolutionary theory and population-level processes, so it is surprising to me that such eminent scientists would not be aware of the flaws in their study design or the prevalence of those dreaded circular arguments, the ultimate scientific sin.

My conclusion therefore points to the less savory possibility. Scientists are aware of the caveats and limitations in their studies but choose not to acknowledge them. One of the only reasons why I think this could be is the amount of money (and therefore power) involved in human genomics research. Increasingly, scientists mix business and genomics and as such are able to generate their own research funds and thus pursue their own interests (sadly for me, there is very little money or power in conservation genetics and so the usual scientific debates are the norm).

To come full circle, I want to revise the argument I made last week. I still agree that the “ideal of objectivity” is attributed to science mainly from those outside the hard sciences. However, I want to add a condition which acknowledges that scientists resort to forbidden knowledge arguments when are put on the defensive. By doing so, they intentionally place themselves within the realm of objectivity and the unworthy challenger automatically in the realm of subjectivity. Thus, the opportunity for scientific debate never arises meaning that both the scientist and his/her funding source are absolved of responsibility.

If, as Frank recommends, the discourse on forbidden knowledge can be eliminated and the playing field once again leveled within the hard sciences, I believe that normal scientific debate and discourse would go a long way in reducing the assumptions and flaws that are currently so prevalent in human genetic study design.

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Personal Opinion vs Law

Contested Reproduction by John H. Evans, attempts to organize reasoning behind debates by using a method of domain expansion. Initially, the methodology made me uncomfortable, since it is always uncomfortable when someone takes your opinions to what you believe are different arguments and tries to show you that they are more or less stemming from the same foundations; add in the fact that we are also talking about how religion shapes these arguments, and the whole book becomes uncomfortable (albeit, interesting). One thing that struck me however, was how easily it is assumed that personal opinions dictate position in a political debate. This seems like a big DUH! If you personally believe homosexuality is wrong, why would you not oppose legalized gay marriage?

However, I can’t help but come from a unique perspective on controversial topics such as abortion. It seems younger generations are becoming more educated, less religious and more about the freedom of personal choice. I’d say I’m somewhere in the middle; attaining high levels of education, Americanized into believing in the freedom of choice, coming from a conservative and religious culture, and not quite being able to fully shake the “morality” of things drilled into me. But who cares what I think, I started becoming curious if other people didn’t feel the same way or if I was just falling pray to recall bias. When it comes to opinions about the law, do people only rely on their personal views about the topic?

In comes the Cumulative GSS Survey Data  from years 1972 to 2006. I give you my regression… [since this post will be slightly more extensive to make up for my absence but I don’t want to take up the whole front page of the blog with a late post, click the link to continueContinue reading

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Women hit back

I’m sure many of you have already seen this, but our discussion about society’s obsession with and the control of women’s bodies and health reminded my that one of my friends sent this link to me on International Women’s Day. I think it’s a pretty cool societal response to all of that madness…

http://annfriedman.com/blog/slutty-women-gifable-0

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