Taking race out of human genetics
February 11, 2016 10:36 AM   Subscribe

In the wake of the sequencing of the human genome in the early 2000s, genome pioneers and social scientists alike called for an end to the use of race as a variable in genetic research. Unfortunately, by some measures, the use of race as a biological category has increased in the postgenomic age. Although inconsistent definition and use has been a chief problem with the race concept, it has historically been used as a taxonomic categorization based on common hereditary traits (such as skin color) to elucidate the relationship between our ancestry and our genes. We believe the use of biological concepts of race in human genetic research—so disputed and so mired in confusion—is problematic at best and harmful at worst. It is time for biologists to find a better way. - An editorial in Science exploring the conundrum facing genomic researchers where race is both fundamentally flawed as a scientific model and violently dangerous but still the only consistent lens through which study participants understand the information they have about their own connection to human diversity

What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era - Francis S Collins
A true understanding of disease risk requires a thorough examination of root causes. 'Race' and 'ethnicity' are poorly defined terms that serve as flawed surrogates for multiple environmental and genetic factors in disease causation, including ancestral geographic origins, socioeconomic status, education and access to health care. Research must move beyond these weak and imperfect proxy relationships to define the more proximate factors that influence health.

The Informationalization of Race: Communication Technologies and the Human Genome in the Digital Age - Peter A. Chow-White
This paper suggests that a new form of racialization is being produced in the information age through developments and innovations in communication technologies. Increasingly, racial knowledge is being constructed from seemingly neutral and unrelated pieces of information, which are collected, sorted, and analyzed through two key technologies: databases and the Internet. I call this interaction between technology and identity the "informationalization of race." As a mode of representation, a structuring device, and as a biological category, race is undergoing a significant transformation in the digital age. I ground this concept in a case study of the next Human Genome Project — the HapMap Project — to understand how technologies are being shaped in a specific institutional setting. Advances in human genomics have recently re-invigorated scientific research into the relationship between race and biology. Where the HGP concluded that humanity is similar at the genetic level, the HapMap Project began by looking for differences between white, African, and Asian groups. It's anticipated that promising findings from the HapMap project will be of help in developing pharmaceuticals that can target common diseases, such as cancer. However, this development also opens the door to old biological conceptions of race and a new phase of the biopolitics of the human body.

Evidence for Gradients of Human Genetic Diversity Within and Among Continents - David Serre
Genetic variation in humans is sometimes described as being discontinuous among continents or among groups of individuals, and by some this has been interpreted as genetic support for “races.” A recent study in which >350 microsatellites were studied in a global sample of humans showed that they could be grouped according to their continental origin, and this was widely interpreted as evidence for a discrete distribution of human genetic diversity. Here, we investigate how study design can influence such conclusions. Our results show that when individuals are sampled homogeneously from around the globe, the pattern seen is one of gradients of allele frequencies that extend over the entire world, rather than discrete clusters. Therefore, there is no reason to assume that major genetic discontinuities exist between different continents or “races.”

Commentary: Considerations for Use of Racial/Ethnic Classification in Etiologic Research - Jay S. Kaufman and Richard S. Cooper
Numerous authors have critiqued the use of race as an etiologic quantity in medical research. Despite this criticism, the use of variables encoding racial/ethnic categorization has increased in epidemiology, and most researchers agree that important variation in disease risk is captured by this classification system. Previous discussions have generally neglected to articulate guidelines for appropriate use of racial/ethnic information in etiologic research. The authors summarize the logical, conceptual, and practical problems associated with the “ethnic paradigm” as currently applied in biomedical sciences and offer a set of methodological recommendations toward more valid use of racial/ethnic classification in etiologic studies. These suggested guidelines address issues of variable definition, study design, and covariate control, providing a consistent foundation for etiologic research programs that neither ignore racial/ethnic disease disparities nor obfuscate the nature of these disparities through inappropriate analytical approaches. This methodological analysis of racial/ethnic classification as an epidemiologic quantity provides a formal basis for a focus on racism (i.e., social relations) rather than race (i.e., innate biologic predisposition) in the interpretation of racial/ethnic “effects.”

Genes, race and research ethics: who’s minding the store? - LM Hunt and MS Megyesi
Background: The search for genetic variants between racial/ethnic groups to explain differential disease susceptibility and drug response has provoked sharp criticisms, challenging the appropriateness of using race/ethnicity as a variable in genetics research, because such categories are social constructs and not biological classifications.
Objectives: To gain insight into how a group of genetic scientists conceptualise and use racial/ethnic variables in their work and their strategies for managing the ethical issues and consequences of this practice.
Methods: In-depth semi-structured interviews were conducted with a purposive sample of 30 genetic researchers who use racial/ethnic variables in their research. Standard qualitative methods of content analysis were used.
Results: Most of the genetic researchers viewed racial/ethnic variables as arbitrary and very poorly defined, and in turn as scientifically inadequate. However, most defended their use, describing them as useful proxy variables on a road to “imminent medical progress”. None had developed overt strategies for addressing these inadequacies, with many instead asserting that science will inevitably correct itself and saying that meanwhile researchers should “be careful” in the language chosen for reporting findings.
Conclusions: While the legitimacy and consequences of using racial/ethnic variables in genetics research has been widely criticised, ethical oversight is left to genetic researchers themselves. Given the general vagueness and imprecision we found amongst these researchers regarding their use of these variables, they do not seem well equipped for such an undertaking. It would seem imperative that research ethicist move forward to develop specific policies and practices to assure the scientific integrity of genetic research on biological differences between population groups.

The Standardization of Race and Ethnicity in Biomedical Science Editorials and UK Biobanks - Andrew Smart, Richard Tutton, Paul Martin, George T.H. Ellison and Richard Ashcroft
As the search for human genetic variation has become a priority for biomedical science, debates have resurfaced about the use of race and ethnicity as scientific classifications. In this paper we consider the relationship between race, ethnicity and genetics, using insights from science and technology studies (STS) about processes of classification and standardization. We examine how leading biomedical science journals attempted to standardize the classifications of race and ethnicity, and analyse how a sample of UK genetic scientists used the concepts in their research. Our content analysis of 11 editorials and related guidelines reveals variations in the guidance on offer, and it appears that there has been a shift from defining the concepts to prescribing methodological processes for classification. In qualitative interviews with 17 scientists, the majority reported that they had adopted socio-political classification schemes from state bureaucracy (for example, the UK Census) for practical reasons, although some scientists used alternative classifications that they justified on apparently methodological grounds. The different responses evident in the editorials and interviews can be understood as reflecting the balance of flexibility and stability that motivate standardization processes. We argue that, although a genetic concept of race and ethnicity is unlikely to wholly supplant a socio-political one, the adoption of census classifications into biomedical research is an alignment of state bureaucracy and science that could have significant consequences.
posted by Blasdelb (34 comments total) 79 users marked this as a favorite
 
I want to read all of this, but have actual work to do. If some kind soul can put together a TLDR, I'd be obliged.
posted by signal at 10:48 AM on February 11, 2016


This is important information. It shouldn't cost so much for academic institutions and non-academics to obtain it.

... The authors of the Science editorial were recently interviewed, which was informative for me:

How would you explain some of the differences that we see between various groups and the prevalence of certain genetic diseases, such as sickle cell anemia in the African-American community?

That’s a great example. Sickle cell is not an African-American or African disease, although it occurs in higher frequency in these populations. But this is not a racial difference; it is a matter of ancestry, geography and evolution. Sickle-cell occurs in higher frequency in populations from regions of the world where malaria is or once was common, as sickle cell is a disease that is an evolutionary adaptation to exposure to malaria.

The sickle-cell trait is believed to be protective against malaria. Thus, sickle-cell disease is at its highest frequency in West Africans and people of West African descent. But this trait is not common in other regions of Africa, where malaria is not as prevalent. Therefore, it is not an "African" disease. Sickle cell also appears in other regions of the globe, in other human populations, including populations in the Mediterranean Basin, the Arabian Peninsula, and on the Indian subcontinent, where these populations also saw this adaptation to resist malaria.

posted by airing nerdy laundry at 10:56 AM on February 11, 2016 [22 favorites]


There was an Infinite Monkey Cage on this topic a few weeks ago and it was excellent as usual so that might be a good primer.
posted by shelleycat at 10:57 AM on February 11, 2016 [3 favorites]


Need more race. Creative CRISPER development of super strong, super smart, elves, trolls, treemen, fairies (with wings), water-breathers, space-people -- true rainbow people, with powers!
posted by sammyo at 11:06 AM on February 11, 2016


I just heard a bit on the hierarchy of lower paid workers in London. The point that the very lowest wages were to "islanders" as an NPRish euphemism for skin color was pretty much a "duh" point. For some "duh" that's horrible injustice, or "duh" that's just the way the world works or other more evil interpretations of the commonly understood way the world works. But that is how it is was not in question.

Another point was that at higher levels on income the race hierarchy breaks down. If one has a card that lets them check into the Ritz, genetics are not an issue.

People are 99.999 percent identical. We are highly tuned to identify that last 0.001 set of differences. Just need to help us all get to the point where it does not matter.

But I still want faeries and smart pills.
posted by sammyo at 11:20 AM on February 11, 2016 [1 favorite]


Race is not a factor that affects people's lives. Racism, on the other hand...
posted by DGStieber at 11:25 AM on February 11, 2016 [1 favorite]


Race is not a factor that affects people's lives. Racism, on the other hand...

They reference that in the main piece. Thanks for posting this Blasdeb. I saw it a few days ago and thought about FPPing this but you did a fantastic job.
posted by cashman at 11:28 AM on February 11, 2016 [1 favorite]


I have a lot of reading to do, but my first thought is: If you can identify the precise genetic mutations associated with something, why would you even bother with something like race? E.g. why ask about race when you can just test for BRCA alleles?

And now, back to reading...
posted by clawsoon at 11:49 AM on February 11, 2016 [1 favorite]


This image, from the Evidence of Gradients... link, is great. On the left, you see how the sampling is done in studies which find that "race is a real thing". On the right, you see how the sampling is done to get "actually, all the groups blend into each other".

This was also interesting, from that link: "Papuans have a 1%-10% proportion of admixture from inferred population D that is otherwise represented only in Native American individuals." That's surprising, isn't it, given that Native Americans are all thought to have come over the Bering Strait from north-eastern Asia? Or is it old news that some Papuans made it to North America?
posted by clawsoon at 12:13 PM on February 11, 2016 [2 favorites]


Pedantry: It's CRISPR, not CRISPER.

When and if we get the "personalized medicine" we've long been promised thanks to advances in sequencing, race should naturally disappear from this conversation, at least when it comes to developing therapies. Now I'm going to actually RTFAs, though. This is probably mentioned.
posted by Thoughtcrime at 12:16 PM on February 11, 2016


Race is not a factor that affects people's lives. Racism, on the other hand...

That doesn't make any sense. Race is mostly culture, and your culture is x% of you (where x is a variable but significant sized number).
posted by Sebmojo at 12:24 PM on February 11, 2016


I'm not sure that saying it's not a racial difference but a matter of ancestry is a helpful clarification.
posted by Segundus at 1:00 PM on February 11, 2016


I just heard a bit on the hierarchy of lower paid workers in London. The point that the very lowest wages were to "islanders" as an NPRish euphemism for skin color was pretty much a "duh" point.

It might have meant Irishmen.

"The islanders, Mulligan said to Haines casually, speak frequently of the collector of prepuces."
James Joyce, Ulysses
posted by thelonius at 1:17 PM on February 11, 2016 [1 favorite]


Race, from a purely biological standpoint, refers to a degree of difference like a subspecies. It's a meaningful, measurable difference in the genes of two groups of related, but different organisms. When we talk about human races, we don't literally mean that we're multiple subspecies of people, but that sense of measurable, biologically significant differences between "the races" lingers.

The point I try to get across in my physical anthropology courses is that human races are social constructs, not biological reality. Understanding that two neighboring communities of wild chimpanzees have more genetic variation separating them than any of the "human races" do is an important, and I think eye-opening, concept. But, as my students always point out, knowing that race isn't biologically meaningful doesn't mean it doesn't have social and cultural implications. However, my hope is that internalizing the fact that no matter what your phenotype, we are very closely related to the guy sitting across from you with fair skin and blue eyes, or brown skin and brown eyes, or any shade of variation in between - that'll move us a little closer to acknowledging that racism truly is a creation of the culture, it's not just The Way It Is, and that we need to work to eradicate it.
posted by ChuraChura at 1:19 PM on February 11, 2016 [9 favorites]


On the other hand, as many of the studies above point out "race" isn't that helpful in understanding medical/epidemiological issues either. In fact, these social constructs may muddy results and and indeed even impede useful data collection.
posted by bonehead at 1:23 PM on February 11, 2016 [2 favorites]


There's an important flipside to this, maybe a counterargument.

To date, non-whites have been inexcusably underrepresented in GWAS studies.

It's all well and good and true to say that race is an artificial construct that is limited in its medical utility. But before we dispense with it entirely, let's make sure that the people who've been excluded from the benefits of the genomic revolution based on race achieve parity with the ones who've been enjoying those benefits.

Broadening the gene pools used in these large-scale studies will benefit everybody. I'm not sure if we can do that, though, without continuing to use this outmoded construct to correct for pervasive racism thus far.
posted by gurple at 2:13 PM on February 11, 2016 [7 favorites]


When you get a paper to review, go all in the sampling diversity section, same as always. This just means that sampling diversity isn't as simple as saying yep, 10 Asians from one small town in China, check, 10 Africans from rural Nigeria, check, and 10 Icelanders, check, all covered (not that this would pass now, of course). But importantly, race isn't a checkbox for and shouldn't be used as a proxy to understand real genetic diversity. Nor should any national grouping. Human diversity is more complicated and subtle than the visual presentations and other cultural signifiers we call race and ethnicity.
posted by bonehead at 2:34 PM on February 11, 2016 [2 favorites]


If I'm understanding this right, race can be a confounding factor in getting actual representative genetic diversity in genetic sampling because there's more genetic diversity, on average, within the artificial categories we call races than, on average, between representative members of different racial groups. Real genetic diversity doesn't map to racial categories and racial categories mislead people into thinking people who share a racial classification can represent an entire class of people, when in reality, there's more genetic diversity between two people coded white or black than between any arbitrary white coded person and any arbitrary black coded person. If the scientific need is for real genetic diversity, then going for diversity by making sure you have certain percentages of representation from different racial categories might actually end up decreasing the actual genetic diversity in the sample. That's the basic idea, right? It's unituitive but it's an interesting problem, stemming from a disconnect between human culture and the underlying physical realities.
posted by saulgoodman at 4:11 PM on February 11, 2016 [1 favorite]


"To date, non-whites have been inexcusably underrepresented in GWAS studies. " --

While I'm sure we all know what you mean, that statement itself is kind of an illustration of the original point, which is that most racial constructs have perhaps some social reality, but almost zero biological reality, and the "black/white" binary distinction has even less than that.

An illuminating read is about racial constructions in Brazil: Brazil - One Drop Rule where the rules about "White" and "Black" are somewhat flipped from those of the USA.
posted by soylent00FF00 at 6:11 PM on February 11, 2016


While I'm sure we all know what you mean, that statement itself is kind of an illustration of the original point, which is that most racial constructs have perhaps some social reality, but almost zero biological reality, and the "black/white" binary distinction has even less than that.

Right but their point is that including people of diverse ancestry in studies does matter, even though "race" is a rather poor and arbitrary categorization of actual human genetic trends.
posted by atoxyl at 7:01 PM on February 11, 2016


This all just seems like an argument for more granularity in our construction of race. Like - I'm not white, I'm Anglo-Irish; he's not black, he's Bantu; she's not Indian, she's Tamil.
posted by nicolas léonard sadi carnot at 7:34 PM on February 11, 2016 [2 favorites]


This all just seems like an argument for more granularity in our construction of race. Like - I'm not white, I'm Anglo-Irish; he's not black, he's Bantu; she's not Indian, she's Tamil.
posted by nicolas léonard sadi carnot at 7:34 PM on February 11


except,maybe, it's not, because race was invented to justify genocide and chattel slavery. I don't think the authors intend to re-invent a social caste system.
posted by eustatic at 7:38 PM on February 11, 2016


Race is an interesting concept. Unfortunately the "people are all 99.99% the same" meme isn't helpful because it only takes a few genetic variants to have a very large and important phenotypic effect.
posted by fraxil at 7:41 PM on February 11, 2016


This all just seems like an argument for more granularity in our construction of race. Like - I'm not white, I'm Anglo-Irish; he's not black, he's Bantu; she's not Indian, she's Tamil.

Well that's not race, it's ethnicity. Which is probably a more useful categorization in some ways but is still really defined by things that don't match exactly with the genetics.
posted by atoxyl at 8:01 PM on February 11, 2016


The Monkey Cage podcast I linked above talks about how skin and eye colour are terrible proxies for genetic diversity. So yes, GWAS studies absolutely need more genetic diversity and more samples from underrepresented groups, but don't base that on how people look.
posted by shelleycat at 11:03 PM on February 11, 2016 [1 favorite]


People are always going to have a "racial" category-sorting response so long as there is visible heterogeneity in the world, so you may as well teach nuance and distinction that matches biological reality, i.e. that the phenotypes visually distinguishable - skin colour, eye colour - are the tip of the genetic diversity iceberg and not at all a useful supercategory when you're talking about variation in the human population.
posted by nicolas léonard sadi carnot at 11:23 PM on February 11, 2016 [2 favorites]


Race doesn't work in science primarily because it's not a scientific concept (leaving aside for now the biological concept of race as subspecies - it has been shown that intra-species genetic diversity is not enough across humans to warrant use of the term as it is defined). If you try to treat it as science, your science will break. For a host of reasons. Races in humans aren't clearly defined. For example, plenty of people who identify as 100% black (and are - in terms of physical appearance, culturally and in their identification with Black experience) will have >50% European genes where there's an identifiable origin. We tend to consider only races mixed with white as "mixed race", so scientists would have to be at very great pains to avoid such biases. Etc. Basically, the only valid comparison for humans in terms of real biological definitions is to consider each individual's ancestory and genome independently (or, perhaps, to define one's own genetic categories around the experiment, using PCA or other statistical data analysis methods). This won't tell us anything about our social construct of race. Neither should it.
posted by iotic at 4:51 AM on February 12, 2016 [1 favorite]


There's not really a single motivation to force the human concept of race into the hard sciences, except racism.
posted by iotic at 4:55 AM on February 12, 2016 [1 favorite]


The fact that witches don't exist doesn't bring any former residents of Salem (or East African albinos) back to life. Things that aren't real nevertheless have real tangible effects on the world.
posted by Octaviuz at 6:01 AM on February 12, 2016


The human social world, yes. Not the world of biological sciences.
posted by iotic at 6:33 AM on February 12, 2016


iotic: "There's not really a single motivation to force the human concept of race into the hard sciences, except racism."
If you were to read to linked article, or even just the text of the FPP, you'll find a few. The conundrum facing genomic researchers is that while race is both fundamentally flawed as a scientific model and violently dangerous, it is still the only consistent lens through which study participants understand the information they have about their own connection to human diversity. How else can we ask about people about what they know of their ancestry and generate indexable datasets? Do you think the desire to see if the assumptions about things like disease risk that we're currently making based on largely white datasets are valid across racial categories so that we can address public health concerns in non-white populations too is fundamentally racist?

There are certainly very strong arguments that the reasons for including race in genomic research are not compelling enough to be worth it, or that the flaws of race based understandings will only prevent us from developing more valid and useful ways to model human diversity by inadequately filling the void we have, but to say that there are no valid reasons for doing it is just a failure to comprehend the question we're talking about.
posted by Blasdelb at 8:18 AM on February 12, 2016


I mean we can't even agree on what the definition of "a species" is, let alone "a race."
posted by AElfwine Evenstar at 8:36 AM on February 12, 2016


How else can we ask about people about what they know of their ancestry and generate indexable datasets? Do you think the desire to see if the assumptions about things like disease risk that we're currently making based on largely white datasets are valid across racial categories so that we can address public health concerns in non-white populations too is fundamentally racist?

You can do those things, but that's not biological research.
posted by iotic at 10:45 AM on February 12, 2016 [1 favorite]


"Race is an interesting concept. Unfortunately the "people are all 99.99% the same" meme isn't helpful because it only takes a few genetic variants to have a very large and important phenotypic effect."

Wrong.

To make this claim you must be ignorant of the within- vs. between-group variance.

The vast majority (e.g. 85% ish) of variation in human DNA is within "racial" groups (however you define them).

About 15%, at best, is between-group variation.

Thus, your claim that "it only takes a few genetic variants to have a large and important phenotypic effect", while technically true, is grossly misleading, because such variation is not correlated (strongly) with "race".
posted by soylent00FF00 at 6:21 PM on February 12, 2016 [3 favorites]


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