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Volume 28 Number 2 | June-Sept 2015

ISSN 0740-9737


GeneWatch June-September 2015 Volume 28 Number 2

Editor and Designer: Samuel Anderson Editorial Committee: Sheldon Krimsky

GeneWatch is published by the Council for Responsible Genetics (CRG), a national, nonprofit, taxexempt organization. Founded in 1983, CRG’s mission is to foster public debate on the social, ethical, and environmental implications of new genetic technologies. The views expressed herein do not necessarily represent the views of the staff or the CRG Board of Directors. Address 5 Upland Road, Suite 3 Cambridge, MA 02140 Phone 617.868.0870 Fax 617.491.5344 www.councilforresponsiblegenetics.org

board of directors

Sheldon Krimsky, PhD, Board Chair Tufts University Paul Billings, MD, PhD Life Technologies Corporation Robert DeSalle, Phd American Museum of Natural History Robert Green, MD, MPH Harvard University Rayna Rapp, PhD New York University Patricia Williams, JD Columbia University

staff

Sheldon Krimsky, Acting Executive Director Sheila Sinclair, Manager of Operations Samuel Anderson, Editor of GeneWatch Martin Levin, Martin Levin, Senior Fellow Elizabeth Small, Associate Fellow Cover Design Samuel Anderson

Unless otherwise noted, all material in this publication is protected by copyright by the Council for Responsible Genetics. All rights reserved. GeneWatch 28,2 0740-973

2 GeneWatch

Editor’s Note

Samuel Anderson

When researchers and companies in rich countries turn their attention to less-wealthy parts of the world, good intentions— or, for that matter, not-so-good intentions—can easily be undermined by a poor understanding of the local situation. Meanwhile, if you’re a company or researcher purposely operating in countries with few regulations standing in the way of whatever you’re trying to do, things may go very well for you, at least for a while. (See, for example: Monsanto in India; Shell in Nigeria; Apple in China.) But that freedom to operate—and responsibility to selfpolice—can get you into trouble. Of course, the communities around you are likely to feel the negative impacts first. In this issue, Jessica Mozersky and Rayna Rapp (page 4) write about non-invasive prenatal testing (NIPT), a technology used to calculate risk of certain fetal abnormalities. Medical societies are urging caution around its adoption, but a handful of private companies are going full speed ahead, particularly in the developing world; though it was first commercialized in only 2011, NIPT is already available in over 60 countries. But the issues here go beyond concerns about doing “too much, too fast.” Paul Billings (page 9) points out that in most of these same parts of the world, potentially beneficial and even lifesaving genomic technologies are only really available to a small subset of the population. As we might expect, equity of access often hinges on personal or family wealth, disparities which are particularly pronounced in much of the developing world. There are also stark urban-rural divides, and in many places, gender inequality can lead to severe differences in health care access. Also in this issue, Carlos Andrés Barragán (page 11) writes about how outside researchers use genomics to create their own “scientific” definitions of ethnicity in Latin America, and Christina González (page 14) writes about how one Puerto Rican community may be turning that same genomic research around to declare their own self-identity. As Billings writes in this issue: “Circumstances of birth and locale should not determine health or medical care.” But if one is trying to understand an unfamiliar person or people, circumstances probably tell us much more than genomics ever could. nnn

comments and submissions GeneWatch welcomes article submissions, comments and letters to the editor. Please email anderson@gene-watch.org if you would like to submit a letter or any other comments or queries, including proposals for article submissions. Student submissions welcome!

founding members of the council for responsible genetics Ruth Hubbard • Jonathan King • Sheldon Krimsky Philip Bereano • Stuart Newman • Claire Nader • Liebe Cavalieri Barbara Rosenberg • Anthony Mazzocchi • Susan Wright Colin Gracey • Martha Herbert • Terri Goldberg June-Sept 2015


GeneWatch Vol. 28 No. 2

4 Not Your Mother’s Amniocentesis While professional societies urge caution, a handful of companies press ahead with the commercialization of Non-Invasive Prenatal Testing around the globe. By Jessica Mozersky and Rayna Rapp 9 Health Care for All The promise of public health genomics around the globe is complicated by the challenge of equitably distributing its benefits. By Paul Billings 11 Untangling Population Mixture? Attempting to genetically define mestizos in Latin America is a complicated task for scientists, but far more complicated for the people being studied. By Carlos Andrés Barragán 14 A Piece Not the Puzzle: Genetics and Affirmations of Taíno Identity Among Puerto Ricans Descendants of the Taíno people are using the same science regime that once declared the Taíno “extinct” to declare themselves “here to stay.” By Christina González 18 Accuracy in Labeling Book Review: Altered Genes, Twisted Truth, by Steven M. Druker. By Phil Bereano 20 Endnotes Volume 28 Number 2

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Not Your Mother’s Amniocentesis While professional societies urge caution, a handful of companies press ahead with the commercialization of Non-Invasive Prenatal Testing around the globe. By Jessica Mozersky

and

Rayna Rapp

Prenatal testing in the United States and throughout the developed world came of age as several forces intersected: the legalization or partial legalization of abortion, demographic changes toward fewer and later pregnancies by many sectors of the population, and technical advances following the discovery of the chromosomal difference causing trisomy 21 (Down syndrome). Prenatal testing has now become a relatively routine part of prenatal care in many, although by no means all, parts of the world. The first available prenatal test, amniocentesis, was diagnostic, but it was only available late in pregnancy (after 16 weeks) and carried with it a small but significant risk of miscarriage. Attempts to push prenatal diagnosis earlier in pregnancy led to the availability of chorionic villus sampling (CVS) in the 1980s, which still carried a risk of miscarriage. The advent of serum screening, initially in the form of a blood test to measure maternal serum alpha fetoprotein (MSAFP), did not bring a corresponding risk of miscarriage, but it is only a screening test: it provides risk information but is not diagnostic. “Positive” screening results indicate an elevated risk and that further testing is required for definitive confirmation of the result (usually in the form of invasive testing). The next major development, integrated screening, was introduced 4 GeneWatch

in the early 2000s and involves two blood tests, one in each of the first two trimesters of pregnancy, combined with an ultrasound, all of which are “cooked” algorithmically along with the age of the pregnant woman to produce a risk estimate. Prenatal screening tests are not, and have never been, diagnostic—a point that becomes particularly salient

from Harmony Prenantal Test website (www.ariosadx.com)

with Non-Invasive Prenatal Testing (NIPT). Screening proved a popular option and it quickly replaced direct diagnosis by amniocentesis or CVS, enabling many women to avoid the risk of miscarriage, except for a very small minority of pregnant women whose screening results suggested elevated risk for Down syndrome, other trisomies, or open neural tube defects such as spina bifida. Those at an increased risk were generally referred for genetic counseling to discuss their results and further testing options. Importantly, screening tests always carry risks of false positives and negatives, and in the case of integrated screening, the false positive rate is 5%. This means that 5% of women who undergo integrated screening will get a “positive” screen result, the majority only to discover upon further testing that it was a false positive—a relief, but only after bringing significant anxiety and the risk of miscarriage as a result of invasive confirmatory testing. Recent figures suggest that since the 1970s, when screening was first introduced, an estimated 30% of fetuses who would have otherwise been born with Down Syndrome were terminated following positive diagnostic prenatal testing results.1 Three points are important to note here: There is a relationship between prenatal screening, abortion, and the number of children ultimately living June-Sept 2015


with Down syndrome; not all women/couples choose to terminate; and these figures predate the introduction of NIPT. So what is NIPT? NIPT has been in development since the 1980s and has rapidly entered the market since its commercial introduction in late 2011. Through a blood draw, NIPT measures cell free placental DNA (cfDNA) circulating in the pregnant woman’s blood to provide risk estimates for particular fetal chromosomal anomalies, such as Down syndrome, as early as 10 weeks in pregnancy. NIPT moves from the biochemical to the molecular, providing sequence-based information and making claims to replace integrated screening. NIPT is almost exclusively available through for-profit companies— four US companies and two based in China—most of which remain embroiled in ongoing legal battles over intellectual property or regulatory battles regarding oversight. Some of the original US companies are being bought up by larger pharmaceutical and diagnostic companies which continue to file intellectual property suits against one another. Roche, for example, just purchased Ariosa Diagnostics, while its competitor Illuminia quickly filed suit against them for patent infringement. Meanwhile the Chinese behemoths, BGI and Berry Genomics, are expanding throughout Asia and into Northern Europe, where comprehensive national healthcare plans are prime, potentially lucrative targets. NIPT remains outside of FDA oversight in the US, but this too is subject to current scrutiny. This fast changing and complex battleground is not yet settled, and final market shares, costs, and regulatory regimes remain open. Volume 28 Number 2

What is clear however is that NIPT is big business, estimated to be worth $250 million in 2012 and to grow to roughly $3.6 billion in 2019. 2 NIPT was originally validated for use in “high risk” women (due to age, family history, or prior screening findings indicating an increased risk) by each company using its own proprietary algorithms, making it hard to assess their claims. When NIPT first came to market, it only provided information on the risk of trisomy 21, 18 and 13, all of which

is a more accurate Down syndrome screen for all women, not just those at high risk. NIPT is therefore poised to replace integrated screening altogether, and one of the most soughtafter aspects of NIPT is its lower false positive rate compared to previous screening methods, enabling many women to avoid invasive confirmatory testing. Another potential advantage is that NIPT’s simplicity could reduce the need in resourcepoor areas for skilled practitioners to perform invasive confirmatory pro-

from Panorama Prenantal Screen website (www.panoramatest.com)

increase with maternal age and were detectable with previous screening methods. While algorithms and data remain proprietary, each company initially published just one validation study in a peer reviewed journal on the sensitivity and specificity of its test for the detection of Down syndrome. And importantly, the initial figures reported for NIPT’s detection of trisomy 21 were, and remain, very high. NIPT can detect approximately 99% of Down syndrome cases, with a low false positive rate (less than 1%). In fact, recent studies show that it

cedures or more complex screening protocols. This seems like good news. And it may be. Many women want to avoid the very small but real miscarriage risk of invasive tests. Integrated screening is a time sensitive, multistep, and complex screening protocol that requires expert input (such as ultrasonographers and maternal fetal medicine specialists). And it has a relatively high false positive rate. In contrast, NIPT is a one time blood draw in most cases, available as early as 10 weeks in pregnancy, and GeneWatch 5


promising a 99% detection rate— what’s not to like about this new and “simple” blood test? If only it were so simple. Companies have a vested interest in increasing their market share, and these competing NIPT businesses are now staking claims to markets throughout not only North America but also Europe, South America, Asia and beyond. NIPT is now available in over 60 countries across 6 continents and spanning the continuum of economic development.3 But before we return to the global explosion of NIPT, we need to contextualize some of the complexity of the commercial drive to expand NIPT. The various companies offering NIPT have been rapidly expanding the conditions included in the test, including sex chromosome anoma-

all technically possible (or will soon be) with NIPT, and given how rapidly testing has expanded there is no reason to think these processes will not be added over time. The validation studies for most of these additional conditions, if present at all, have used progressively smaller numbers of pregnancies to report their outcomes. In a competitive commercial environment, the rationale for adding more conditions is presumably to carve out ever bigger shares of the market under the assumption that more information is always better for the consumer —an assumption which has been significantly critiqued by both disability rights’ activists and feminist coalitions. But something important happens as additional, and especially rare, conditions are added to NIPT:

to individual consumers. The companies do their due diligence by advertising their test as a screening, as opposed to diagnostic test, but you’d be forgiven if you didn’t read the fine print. You’d also be forgiven if you found yourself convinced that this test was over 99% accurate—which it is, but only for one condition, Down syndrome; or if you struggled to understand the differences between trisomies, rare microdeletions, sex chromosome anomalies, and the differing predictive ability of NIPT for each of these categories. Patients and providers are confused about interpreting test results, with published and anecdotal reports emerging of women very nearly, or actually, aborting fetuses based on an NIPT result without confirmatory testing, or giving birth to babies af-

How will NIPT ‘fit’ into regions where access to prenatal care is non-existent? lies, rare subchromosomal microdeletions, and fetal sex (which let us remember is not a “condition,” and has huge implications for sex-selection worldwide). But there are significant differences between these conditions and the trisomies, leading some to argue that highly disparate clinical realities are now being inappropriately lumped together.4 These conditions are not age related, some have variable or negligible clinical significance, and many of the microdeletions are extremely rare, yet these additional tests are now being offered as optional “add-ons” with the choice to opt in or out of various parts of the test on a payment scale. The ability to sequence the entire fetal genome, screen for monogenic disorders, and adult onset conditions are 6 GeneWatch

the test’s positive predictive value goes down and the false positive rate goes up. This is an inevitable artifact of including rare conditions: the rarer the condition, the more likely you are to have a false positive result. The increasing high false positive rate will potentially undermine the major benefit of NIPT: to reduce the number of invasive tests women undergo as a result of positive screen results. This will be further exacerbated as the population of women deemed eligible for testing—the general lowrisk population—are swept up in the NIPT net. It has been hard to assess the companies’ claims. Go to their websites and you will see that this is not your mother’s amniocentesis, but rather a “lifestyle choice” being sold

fected with conditions that they were falsely reassured about following a “negative” NIPT result - sometimes based on incorrect guidance from doctors.5 While genetic counselors, specialists in maternal fetal medicine, and obstetric providers may be well placed to interpret NIPT results, many health care providers are not. And the vast majority of prenatal care takes place outside of medical centers with such concentrated medical expertise. Given the uncertainty raised by NIPT, a recent joint statement by the European Society for Human Genetics (ESHG) and American Society for Human Genetics (ASHG) urges caution and expresses concern about the rapid expansion of NIPT.6 They recommend that NIPT currently June-Sept 2015


only be used for serious congenital childhood disorders that have been validated clinically—such as trisomy 21, 18 and 13—and not for fetal sex, sex chromosome anomalies, or rare microdeletions. These professional societies recommend that testing only be offered by a health care professional who can provide adequate pre- and post-test counseling to help individuals understand the test and its limitations (a salient concern with direct-to-consumer genetic tests in other healthcare arenas). Another concern is that the addition of rare, complex conditions will be much less familiar to many health care professionals, making the provision of accurate and balanced information to prospective parents especially challenging. Pre- and post-test counseling could become unmanageably complex as multiple conditions are included, creating additional barriers to truly informed decision making, especially when genetic counseling is an “add on” service with an additional price tag, not included with complex results. Thus professional societies are urging caution, while companies continue to expand their markets. And if your head is not already spinning with the current uncertainties raised by NIPT, let us come to the last and perhaps most unsettling aspect of NIPT: its rapid global expansion. NIPT is now available in over 60 countries across the globe. The companies, costs, and conditions included in testing in each of these global spaces remains relatively unknown, and in some places data is altogether unavailable. But genomic technologies that originate in one place (whether it be Hong Kong or California) and diffuse to others will inevitably play out differently depending on the context. Past experiences of the implementation of genomic technologies in these areas Volume 28 Number 2

suggest that there are likely to be inequities in terms of access, provider expertise, patient understanding, cost, national regulation of laboratories, biomedical technology metrics, access to abortion, and more. There likely are also diverse socio-ethical implications of NIPT, given the range of local cultural, economic, political contexts and available infrastructures; reflecting the salience of religious, kinship, and other communitarian values. Take for instance fetal sex information, which NIPT provides as early as 10 weeks in pregnancy. In areas where sex-selection is practiced (such as India or China), NIPT’s ability to provide accurate and early fetal sex information could exacerbate the selective abortion of female fetuses and demographic trends of males outnumbering females. What will happen in places where there is no legal access to abortion, as is common in Latin America? What choices

to potential misuse of, the allocation of scarce resources? How will NIPT “fit” into regions where access to prenatal care is non-existent? Despite the clear recommendation of ASHG/ESHG that NIPT be accompanied by pre- and post-test genetic counseling, will this really be feasible in most regions of the world? How will informed decision making, consent and reproductive autonomy—so highly valued and prioritized in North America and Europe—be upheld in these varying contexts? Perhaps most worrisome, the consequences are unclear in places with highly limited resources and no backup or confirmatory options available to confirm positive NIPT results. Given existing US reports of physicians and women misinterpreting NIPT results as diagnostic without confirming findings, the possibility of this happening in other areas of the world is a looming and legitimate concern.

from Harmony Prenantal Test website (www.ariosadx.com)

will these “consumers” of NIPT have following their results? Does NIPT encourage reproductive autonomy in a context where there is no legal and/ or access to abortion? Even in the US, many state-based insurance plans cover prenatal screening but not abortion. In areas of limited public health resources, how might implementing NIPT conflict with, or lead

This brings us to another important area of concern: disability and the complex ways in which reproductive technologies such as NIPT are implicated in notions of impairment. In the US alone, there is significant geographic and ethnic variation in attitudes towards terminating Down syndrome pregnancies, with much higher rates in the Northeast, GeneWatch 7


for example.7 Disability rights activists argue that prenatal screening and termination of “affected” fetuses could ultimately lead to fewer resources being made available for those individuals living with the condition, especially as birth rates go down. How might global variation in attitudes toward disability, combined with a mind-boggling array of new “conditions” included in NIPT, play out? Will the myriad of conditions being added to NIPT also become labeled as disabilities, or will there be new spaces opened up for debate and inclusion? How might alterna-

that access to and cost of NIPT are highly variable across states. NIPT could potentially be used for what is known as “family balancing” in the US, rather than the less acceptable label of sex-selection used to describe “elsewhere.” Ethical challenges abound right here at home, as well as in non-Western or developing countries, albeit different issues will arise at the local, national, and regional levels. Yet there has been little comparative knowledge-sharing about the heterogeneous dissemination of this technology or the social and ethical implications of NIPT in these

from MaterniT21® Plus Prenatal Test website (https://laboratories.sequenom.com/patients/maternit21-plus)

tive notions of disability, local social support, and kinship networks affect what is considered a “disability” or part of natural human variation? Before we slip into an all too easy “us” versus “them” binary mode of thinking, we must remember that many of the above mentioned issues exist right here in the US, albeit perhaps in different guises. Abortion laws are being rolled back, making abortion less available in many states; a 2011 study found that 17% of US mothers could not access prenatal care as early as they wanted, and 6% had very late prenatal care, or none at all.8 In some states, such as Alaska, there are no registered medical geneticists.9 The privatized fractured health care system means 8 GeneWatch

different national contexts. This “simple blood test” being offered by competing NIPT companies turns out to be quite complicated, thanks to a combination of aggressive marketing and advertising, uneven professional publication of study results, and proprietary rights and algorithms that make comparison across tests difficult. These practices may all make great market sense, but they mask many issues of which consumers should be aware: the need for but potential lack of genetic counseling when complex results are reported; insufficient genetics laboratories, infrastructure, and expertise to conduct backup testing in resource-poor settings; and confusion of primary healthcare physicians everywhere.

These issues lead us to highlight the cautious approach being advocated by professional societies in North America and Europe with the rapid global expansion of NIPT. Despite these doubts, market share appears to be reason enough for the testing companies to forge ahead. But the successful business model for NIPT that has enabled its expansion at great velocity selectively across the globe should not muffle public discussion of the social and ethical issues it raises. Scientific and highly technical innovations always play out under conditions that appear “new” while masking the older familiar social ground on which they are built. In the case of NIPT, a “simple blood test” raises very old concerns regarding equity, policy, bias, disability, and reproductive autonomy — problems that are “hidden in plain view” as pregnant women and their supporters are enrolled in a testing market that differentiates and brands itself as new. nnn Jessica Mozersky, PhD, is a postdoctoral fellow in advanced biomedical ethics in the Department of Medical Ethics and Health Policy at the University of Pennsylvania. She is the author of Risky Genes: Genetics, Breast Cancer and Jewish Identity (Routledge 2013). Rayna Rapp, PhD, is professor and associate chair in the Anthropology Department, NYU. Her award-winning books include Testing Women, Testing the Fetus, and Conceiving the New World Order. She is currently writing a book on the growing presence of disability consciousness in the US with anthropologist Faye Ginsburg.

June-Sept 2015


Health Care for All The promise of public health genomics around the globe is complicated by the challenge of equitably distributing its benefits. By Paul Billings

Poverty and malnutrition impact the incidence and care of a variety of conditions, as they intensely modify social conditions. Obviously, in an ideal world, health care advances developed in the first world would also become available rapidly in poorer countries. Circumstances of birth and locale should not determine health or medical care. But they do. As technology advances, it may be possible to not only limit costs of adopting new technologies, but also to increase the rapidity of translation, resulting in improved birth and childhood health, the treatment of infectious diseases, and management of chronic conditions. In the last issue of GeneWatch, there was an in-depth discussion of genomics in the public health sector. This discussion is intimately intertwined with developing world issues and significant scholarship is at play. In this essay, I have viewed the challenges of this type of development and genomics.

Image: Samuel

Anderson

Genomic Public Health Can genomics as an information input improve or protect the public’s “health”? The notion that there is a role for genomics in public health policies and efforts has always been controversial. The health impacts of genes are usually identified in individuals or, as they are inherited, in families. These people (individuals and their families) are usually the beneficiaries of genomic information. Volume 28 Number 2

Governments and bureaucrats using genetics—or, more recently, genomics—have historically been the vectors of eugenics, not necessarily providing benefits to health. Despite this history, states have required or provided genetic testing (or encouraging information about it) in the preconception/premarital, prenatal and newborn settings. The public cost of these programs is justified by the idea that parents will have more information to prevent unnecessary illness or developmental abnormalities in the fetus or newborn, a costly “burden” on society. Premarital and prenatal testing clearly

reduces the number of pregnancies with types of genetically variant fetuses that are born. Newborn testing prevents newborn demise or permanent neurological damage in a small number of children with disorders. These examples of public health genomics are currently expanding as the cost of producing the testing information is reduced, the methods are simplified, and the analysis becomes comprehensive. Recently, as whole exome and genome assessments have become more feasible (with genotyping or sequencing approaches), states have sought to better characterize their GeneWatch 9


citizenry with genomic ancestry testing. A variety of citizenship benefits could be linked to DNA-based proof of origin, but most of the prevalent programs provide such testing in order to plan for overall healthcare costs for their citizens. For instance, there are countries where inherited illness is a common cause of morbidity and mortality across many age groups. Understanding these disease origins and any links to particularly susceptible groups within a population might allow better health care cost management, prevention, or early disease detection. In imagining how public health genomics might evolve, several factors might be considered: 1. Better, more accurate methods are being developed to assess most or all the DNA in our germlines and in somatically altered tissues. This better data should allow more reliable determinations of mutation and form the basis of better correlations with health outcomes or states. 2. In order to understand how genes might affect individuals who make up a “public,” we will need more than simply accurate analysis of DNA. The next generation of data will have to consider epigenomic effects, gene-gene modifications or interactions, and other systems that might modify the functional impact of DNA variation in specific populations and environments. While the goal might be to define genomic risks to consider and manage, the outcome may be to demonstrate the limitations of genomics in informing public health policies. 3. The challenge facing providers of genomic information now is to show effectiveness and utility in clinical settings and encounters. 10 GeneWatch

The requirements for evidence and benefits must be considerably higher when considering adopting genomics as part of a public health policy. Exactly what evidence is needed prior to general adoption seems to me to require an informed democratic oversight process by citizens. 4. If indeed analysis of the genome yields public health benefits, then it is imperative that the conditions and limitations of that advantage be clearly defined and that equitable access be provided. Put another way, if a society is going to invest in genomics to improve public health, and evidence exists that it should be effective, then a fully equitable non-discriminatory distribution of the knowledge and benefit should be the policy imperative. Modern genomics will illuminate many aspects of the experience of individuals and families. It may play some role for specific groups that make up our diverse publics. Income inequality, malnutrition, educational opportunity, infection control, and simple hygiene measures may still be the most important targets and programs for public health, particularly as technology seeks translation into the developing world. A limited and realistic role for genomic information in public health considerations, with the intent of appropriately improving global health across geographic, cultural and economic disparities, should be hoped for. nnn Paul R Billings, MD, PhD, is Executivein-Residence at Janssen Diagnostics, Inc. and a Council for Responsible Genetics Board Member.

Stem Cell Dialogues

A Philosophical and Scientific Inquiry Into Medical Frontiers By Sheldon Krimsky “Stem cells” have become linked with both new frontiers in medical science and political and ethical controversy. Addressing the moral and ethical issues of stem cell research while also educating readers about the biological function and medical applications of these cells, this book features fictional characters engaging in compelling inquiry and debate. Educational, entertaining, and rigorously researched, Stem Cell Dialogues should be included in any effort to help the public understand the science, ethics, and policy concerns of this promising field. “Krimsky’s use of the dialogue method identifies, sharpens and advances both key points of debate and the breadth of issues being addressed.” — Ronald M. Green, Dartmouth College AVAILABLE NOW from Columbia University Press

June-Sept 2015


Untangling Population Mixture? Attempting to genetically define mestizos in Latin America is a complicated task for scientists, but far more complicated for the people being studied. By Carlos Andrés Barragán

Human genomics is a burgeoning field of research in Latin America, enabled mostly by North-South and South-South collaborations among private and public laboratory networks. After the completion of the first sequence of the human genome in 2000, the promise that genomics would deliver humanity into an era of personalized medicine by mobilizing life scientists, pharmaceutical companies, and governments around the world into a frantic mapping agenda of genomic aspects of patients and the populations they represent. Latin America and the Caribbean have not been an exception. The region encompasses 32 countries and nearly 10% of the world’s population. Scientists treat Latin America as a living laboratory to understand the branching of Homo sapiens out of Africa and the contemporary constitution of human genetic diversity itself; entrepreneurs, on the other hand, frame the region as an untapped source of Volume 28 Number 2

human subjects for pharmaceutical trials and as a great consumer market to deliver medicine. In recent years countries like Argentina, Brazil, Chile and Mexico have been channeling considerable public funds into the study of their respective populations. Perhaps the most notorious example is the creation in 2004 of the Instituto Nacional de Medicina Genómica (INMEGEN) en Mexico, framed as a biotechnological nationalist project whose main goals have been to produce first-class research specifically tailored for the Mexican population and to increase therapy efficacy.1 But from all the different sorts of biological samples used in medicine, the collection of blood samples for genetic sequence and analysis is the one that causes more criticisms in Latin America. At stake are not only ethical dimensions (i.e. informed consent, inclusion), but also concerns over property rights and issues

of representation, particularly about the scientific claims produced about the individuals sampled and the populations they represent. Let us consider how these efforts look from a university research network situated in the United Kingdom. Delivering maps On March 21, 2008, BBC’s Science & Nature section featured an article on recent genetic findings on the history of its human populations.2 The story explored the research of Andrés Ruiz Linares, a medical doctor at University College of London’s Biology Department, whose work focuses on geographic patterns of genome admixture in Latin American “mestizos.” According to the BBC story, Ruiz’s study suggests a “clear [genetic] signature” among contemporary individuals representing mestizo populations from seven countries (Argentina, Brazil, Chile, Colombia, GeneWatch 11


Costa Rica, Guatemala, and Mexico). Despite a great genetic admixture variation and the presence of Native American genetic “heritage” within the countries considered, the study found that three parental populations—Native American, African, and European—had, since the 16th century, changed into the singular mixed category of mestizos. The newsworthiness of Ruiz’ findings was based in its potential to change how Latin Americans perceive themselves. The BBC article quotes Ruiz as saying: “It is very important in terms of rescuing the past and recognizing the roots of the population, and the living presence of natives within the current population.” The BBC story also stated that, in addition to offering a window into the past, Ruiz’s research agenda might hold medical value in understanding the genetic basis of complex human traits, like disease, within the Latin American mestizo populations. Mestizos: What is in a name? Ruiz and his research team had published their results in the scientific journal Public Library of Science Genetics. But a close reading of their article, “Geographic Patterns of Genome Admixture in Latin American Mestizos,” brings to the table more questions and challenges than just a reminder of the historical deleterious political, economic and population effects of Europe’s colonization of the New World.3 The most obvious concerns the meaning of mestizo as a phenotypic category identifying a human being, and of mestizaje as a mixing process. In Spanish-speaking areas of the Americas, mestizo has been exclusively used to describe in racial terms the offspring of Europeans and Native Americans. Later, it has been 12 GeneWatch

deployed to describe a general process and state of racial mixture, in a similar manner to the way in which “miscegenation” has been used to describe the interbreeding of people considered to be of different inferior racial types. In different contexts of Latin America the concept of mestizo stands also in contrast to cultural and biological identities of Native Americans, Whites, and Blacks/ Afro-descendants. According to social science scholarship, however, the concept of race and racial categories are social constructions that are described as biological facts. Anthropologist Verena Stolcke argues that mestizos are not born, but are made. Stolcke’s work describes how the category mestizo has been used to justify political and economic inequalities across the Americas, and that its meaning is flexible and made to adjust to local understandings of race and racial purity.4 Mestizo as a racial and cultural category is one of those abstractions shifting in time and space in the imagination of laypeople, ascribed to biology and genetics in the work of social and life

scientists since the late 18th century. But if we are to accept Stockle’s argument, why can contemporary population geneticists like Ruiz find mestizos and genealogically measure them in time and space? The key to this lies in understanding how scientists conceive of and sample the populations they study. Life-scientists are grounded in particular social contexts which inform their conceptual and methodological approaches. Admixture mapping traces genotypic differences when historically separated human populations reproduce. These separated human populations are described as “ancestral” or “parental” populations; in the context of the history of Latin America, these populations are defined as “Native American,” “European,” and “African.” At the molecular level a mestizo is thus one that shows genetic imprints in different percentages of Native Americans (from PreColumbian and Colonial times), Europeans, and sometimes of Africans. But the problem with each of these geographical biological characterizations is that they have been produced

June-Sept 2015


since the 1990s using racial and ethnic categories that end up portraying parental populations as genetically homogenous. Thus the statistical apparatus that allows the comparison of “ancestry informative markers” (AIMs) can be misleading. Data obtained in the case study considered here is not just objectively guiding us to identify a biological natural kind (i.e. Latin American mestizos). That would be impossible considering that the data is profoundly shaped by the very definitions of ancestral populations and the limitations of using them as a model, as an approximation to detect change or continuity in the genetic structure of a population. If we are to read Latin American mestizos as a natural kind (the embodiment of objective ancestry elements), can we ask how the authors’ geographic characterization of mestizo populations distances itself or overlaps lay or legal racial/ethnic readings of mestizos across the region? In other words: Are scientists’ geographic patterns of genome admixture for mestizos different or similar from the racial/ethnic realities perceived by the very same tissue donors and the populations they represent? Furthermore, what happens when the category “mestizo” travels within scientific networks in which it does not hold a common meaning, and then the donors and populations studied get standardized instead as Hispanics or Latin Americans?5 The proxying processes through which mestizos are translated into “Hispanic” or “Latino” deserve some attention. Normatively, the term “Hispanic” makes reference to Spanish-speaking countries and to those individuals coming from there and living in the United States. The term “Latino” is widely used in the United States to broadly identify individuals with origin or ancestry in Latin Volume 28 Number 2

America. Nonetheless, Latino makes reference to someone that speaks old Latin or a language derived from it (this includes languages such as Catalan, French, Italian, Portuguese and Spanish). The use of Hispanic and Latino as ethno-linguistic categories is contested by Brazilians and Haitians because of the stereotype in the United States that all Latinos speak Spanish. The preference for the use of “Hispanic/Latino” for some researchers, editorial boards and funding agencies, rather than mestizo, gets primarily linked to the demographic and epidemiological potential to speak about Hispanics/Latinos, since they are a “growing segment of the U.S. population.”6 Mestizo, Hispanic and/or Latino proxy the emergence of admixed as a population category that facilitates the translation and comparison of human diversity, or in some cases the silencing of noise in scientific data. Mapping the mapping is a key Bio-geography and ancestry are no less contestable concepts just because on the surface they seem to be more neutral, more objective, or less controversial than race or ethnicity. Along with anthropologist Michael Montoya, I consider that the challenge is not to reflect whether AIMs are informative or not, but informative of what. While studying life scientists’ biomolecular work on Type 2 Diabetes in the Mexican-US border, Montoya described a grafting process in which disease causality gets informed by the cultural identities and the socio-economic status of the persons being sampled.7 Such examples of “ethnic constriction” enable most of the scientific value that individuals and populations across Latin America might embody as labor force in clinical trails, as tissue

donors, or as potential markets for the consumption of genetic tests and pharmaceuticals. If admixture mapping is possibly paving the way for a more individualized medicine, all the more reason biologists, biological and cultural anthropologists, medicine doctors, epidemiologists, and geneticists need to address and question the ways in which they are conceiving racial and ethnic groups, populations, and the very sampling strategies used to study them. Despite any altruistic motivations behind efforts to understand human diversity, we need to keep in mind that such enterprises are not only scientific ones but inherently socio-political and commercial as well. We cannot ignore the potential of such initiatives to unintentionally contribute to health disparity and the misrepresentation of populations. The possibility of building more robust scientific approaches to map the linkages between genotypes, phenotypes and environments demands a thorough analysis of how life scientists build taxonomies and how such taxonomies create realities for research participants or patients. Avoiding this task would make us close more locks around the ways we conceive and narrate our bodies in terms of belonging, purity and mixture and diminish what we can expect from human genomics. nnn Carlos Andrés Barragán is a Ph.D. student in the Science & Technology Studies Program and the Department of Anthropology at the University of California, Davis.

GeneWatch 13


A Piece not the Puzzle: Genetics and Affirmations of Taíno Identity Among Puerto Ricans Descendants of the Taíno people are using the same science regime that once declared the Taíno “extinct” to declare themselves “here to stay.” By Christina González

“Papá… You are of cells caught on a cotton swab rubbed on the inside of my cheek to prove that your tribe persists in the deepest part of my marrow and my red blood cells bear witness to your resurrection in the birth of each of my sons.”1 So proclaimed Nuyorican poet Peggy “Guatuki” Robles-Alvarado in an impassioned ode to her grandfather, Pedro Robles Miranda, at the 7th Annual Taíno Awards held at the Bronx Museum of the Arts, in New York. The audience broke out into thunderous applause with affirming shouts from all around. Their reaction was a celebratory response typical in such a setting, to the highly touted statistic that approximately 61% of Puerto Ricans today carry “Taíno DNA.” “Taíno” is the most common name for the pre-Columbian indigenous Arawakan Peoples of Puerto Rico and the Greater Antilles who are popularly imagined and depicted as “extinct.” The statistic above is derived from genetic studies published by Dr. Juan Martinez-Cruzado throughout the 2000s that identified the existence of mostly mitochondrial haplogroups A and C in the maternally inherited mitochondrial DNA (mtDNA) of island-based Puerto Ricans.2,3 These and other similar studies 14 GeneWatch

suggest that early colonists, unmarried Spanish men arriving in the Caribbean islands from the late 15th century, fathered “mixed” children with native Taíno women.4 This “mixing” continued for centuries, also incorporating people brought from sub-Saharan Africa as slave laborers beginning in the early 16th century, and producing what is imagined in Puerto Rico today as a racial-cultural tri-partite society.5 Alongside the popular view of Taíno cultural and biological absorption into an essentially “mixed” nation is the official and dominant narrative of Taíno “extinction,” where – as the story goes – the people themselves were annihilated through slavery, disease, and warfare in the 16th century.6 This erasure was exacerbated later, through the removal of indio, or “American Indian,” as a census category in the late 18th century, transferring this portion of the populace into the racially ambiguous category of pardo, or “mixed.” 7 Puerto Rican consciousness of “indio/Taíno” has arguably always invoked both absence and presence, extinction and survival, through the concept of mestizaje, or mixedraceness, and cultural hybridity.8 Thus, the genetic studies that identified “Taíno DNA” get interpreted in diverse ways, mainly as evidence of Taíno extinction or of Taíno survival. The proponents of the former argue that modern Puerto Ricans carry the

DNA of an “extinct” people, or that Puerto Ricans need not embrace one element of their racial composition in (assumed) disregard of the others;9,10 whilst proponents of survival argue that the presence of “Taíno DNA” – in the majority of genetically tested Puerto Ricans no less – functions as just another type of evidence affirming Taíno survival despite, and even through, “mixed-ness.”11,12 The conflict between these views is reflected in the 2011 Nature News controversy where Stanford geneticist Dr. Carlos Bustamante and Nature News were criticized by Taíno-identified people.13 Taíno today challenge the veracity of the historical archive on the grounds of its paucity and fallibility in presuming their non-existence. And so, despite the dominant statesponsored perception of Taíno extinction, more than 35,000 Puerto Ricans throughout the island and the diaspora self-identified as “American Indian and Alaska Native” alone or in combination with another “race” in the 2010 US Census.14 This selfidentification as American Indian was an almost 50% increase from the 2000 Census, correlating with Taíno advocacy and perhaps with the increased popularity of genetic genealogical technology used to inform, if not transform, a sense of self, history, nation and community. The results of and media campaigns from the June-Sept 2015


“Coming of the White Man.” (1850) Joshua Shaw.

genetic studies in Puerto Rico helped spawn an industry of Puerto Ricans pursuing DNA ancestry tests of various sorts—mtDNA, Y-chromosome (paternally inherited and passed only to sons) and autosomal DNA (inherited from both biological mother and father), through companies such as Ancestry DNA and 23andMe. The perceived authority of genetic science that these tests carry are often sought in the hope of revealing or confirming who or from where one “really” is—that is, ideally, Taíno, from Borikén (the Indigenous name of Puerto Rico). Of course, Puerto Ricans on the island and throughout the diaspora had already been exploring and claiming a Taíno identity well before these genetic studies were underway—for example, through participation and exchange in the North American Indian powwow circuit from the 1960s,15 Puerto Rico’s Paseo Taíno/ Travesia Taína from the 1970s,16 and the 1990s formation and advocacy of Volume 28 Number 2

the United Confederation of Taíno People.17 For many Puerto Ricans, still, genetic population studies and genetic genealogical tests work not just to ignite further curiosity in (recovering) a marginalized history, culture and identity; they also work to confirm, and even legitimize, this decolonizing work, which has already been undertaken for decades, and oriented around Taíno continuity and resurgence. Peggy “Guatuki” Robles-Alvarado’s confident yet metaphorical declaration of genetic science being able to confirm that her Taíno grandfather’s presence endures in the “deepest part” of her biological composition is reflective of the general Puerto Rican public’s more literal trust in a science that is itself contestable. In recent years, scientists, scholars and activists have called for greater transparency in the production and reporting of genetic science and the commercialized genetic testing industry, so that the assumptions that

inform their work are shared with the consumer public, thus educating and empowering them to better engage with and interpret the science.18 Although a belief in “Taíno DNA” may work to support the claims-making of some Taíno, there are limitations that may hinder or subvert the claims of others in the very science that creates and maintains the existence of “Taíno DNA.”19 For one, tests oriented around mtDNA or Y-chromosome lines can only account for less than 1-2% of a person’s entire genetic lineage. Thus, a Puerto Rican who identifies as (an) indio or Taíno (descendent) may still not exhibit “Taíno DNA” in a mtDNA or Y-chromosome test, even though s/he might possess DNA derived from an indio/Taíno ancestor.20 One should note that these tests also privilege biological information in constituting family, thus undermining non-biological kin whose orientation around “Taíno-ness” may be questioned for not having a genetic GeneWatch 15


“stamp of approval.”21 Secondly, the mitochondrial and Ychromosome haplogroups assumed to be “racially” Native American and used to ascertain “Taíno DNA” are based on inferences made from continentally-derived racial groups from the Americas and Asia. Whilst these haplogroup frequencies can be found in high degrees in a given bio-geographically determined population, they are also found in other populations throughout the world, albeit in smaller numbers. Moreover, these predetermined racialized haplogroups are present in the statistical algorithms used by genetic ancestry companies to locate “Native American DNA.” Genetic studies and tests cannot unequivocally locate racial markers in our genomes that are specifically “Native American,” or even

of the scientifically-illiterate consumer of DNA ancestry tests eagerly grasping for a genetic indigeneity “caught on a cotton swab.” Within such a conceptualization, consumers of genetic genealogical tests attempt to re-fashion themselves as Native American based upon limited and unquestioned interpretations of, and dubious connections made to, a single, distant, obscure “Native American (genetic) ancestor.”22 However, it could also be argued that some Taíno celebrations of genetics mirror something else; that is, Puerto Ricans accessing and using the very science regime that once declared Taíno “extinct,” to declare themselves “here to stay.”23 Indeed, Taíno survival through genetic science is entangled in a larger politics of development for Puerto Ri-

the island since the mid-20th century destroyed Puerto Rico’s agricultural economy, leading to 80% of the island’s current food sources being imported, and the majority of islanders being severed from a sense of survival off of their land. This consequently endangered agroecological knowledge that is now being actively sought and revived.25 In this way, the consequences of Puerto Ricans’ interest in and use of genetic science to legitimize (re)connections to Taíno indigeneity does not merely help demonstrate the genetic survival of Taíno. The decolonizing and (re-)indigenization politics that emerge partly through, if not supported by, the science may also offer survival strategies for a more self-determined, self-sufficient future for all island-based Puerto Ricans.

DNA tests cannot tell you who you are so much as merely infer where some of your genetic ancestors might have come from, often at an unspecifiable point in time. “Taíno” per se, without first mapping ideas of a (continent-specific) Native American “race” onto the genetic data. Lastly, one’s genetic markers do not neatly nor decisively correlate with one’s cultural groups or sociopolitical communities, and thus, genetic ancestry does not necessarily reflect one’s identities and lived experience. In other words, DNA tests cannot tell you who you are so much as merely infer where some of your genetic ancestors might have come from, often at an unspecifiable point in time. Consequently, one might read Robles-Alvarado’s and other Taínos’ confident call to genetics as examples 16 GeneWatch

cans: development not only within a socio-economic framework, but also socio-ecologically, through history, culture, and knowledge production. Currently, the island population suffers through a worsening and debilitating financial crisis, that arguably stems from its present-day colonial status as a “free associated state” of the United States (since 1953). Such status, while granting Puerto Ricans limited citizenship and politically unrestricted mobility between the island and the mainland, also historically opened and currently exposes the island and its people to U.S. military, scientific, and economic experimentation and exploitation.24 The intense industrialization of

It should be noted that self-identified Taíno located throughout Puerto Rico and the U.S. mainland are not a homogenous community nor a monolithic force. The Taíno resurgence movement is heterogeneous and involves more than genetics or politics, demanding a more nuanced understanding than these tools alone can provide. For example, scholars such as Tony Castanha have argued that the “disappearance” of Taíno was in fact simply their re-branding as jíbaro, or the rural peasants of the island’s mountainous regions, whose culture was and is recognized by some as having indio elements or a base.26 Meanwhile, scholars such as Jada Benn Torres call for genetic data June-Sept 2015


Jamaicans, and Haitians; artisans, students, teachers, Hip Hop artists, and nurses; multigenerational families, members of Taíno cultural groups and pueblos in restoration, allied supporters, and myself, an anthropologist, all listening attentively to Robles-Alvarado’s truth-claim: “Papá I search for you in dusty census records, immigrations logs, voter lists, call your name in empty libraries and I am regularly disappointed by your absence on ancestry.com I call for you and hear lies

to be interpreted in combination with other evidence of Taíno survival, such as oral history, cultural traditions and materiality,27 in order to understand calls made to contemporary Taíno existence and resurgence. Indeed, Peggy “Guatuki” Robles-Alvarado’s truth in her poem, of having a Taíno grandfather and Taíno sons, is not affirmed through genetic data alone, but in combination with what she already holds to be true, through memory and embodied experience, and through other cultural, spiritual, and oral historical evidences, as expressed in her larger poem. While genetic studies and tests may serve as a catalyst and legitimizing force for many Puerto Ricans undergoing de-colonizing and (re-)indigenizing politics, they need not be what gives power to contemporary Taíno and their resurgence Volume 28 Number 2

movement. Celebrations of the science should not be divorced from critiques of it, which do not necessarily undermine the larger political project; nor should they be divorced from a reliance upon other forms of knowing, some of which may not correlate with genetic data, and which continue to be marginalized in the hierarchy of knowledge production. At the same time, critics should not simply dismiss the movement out of hand, but seek to understand the various reasons and justifications for affirmations of Taíno identity in the 21st century. About 500 people from diverse backgrounds gathered at the Taíno Awards ceremony in the Bronx, a central hub of the Puerto Rican diaspora and “home” to many Taíno. Attendees included diasporic and islandbased Puerto Ricans, Dominicans,

They tell me you are gone, eclipsed your Taíno spoken word with European written records and call you illiterate, question the purity of your blood, claim your nation vanished in the 1500’s, told me our people perished in a sea of canons and Christianity, bounced and buried our babies in blankets of small pox, broke our maracas, drums and caciques until we forget our songs, and mocked our accents when we finally learned to speak again Papá They lied” nnn

Christina González is a doctoral student at the University of Texas at Austin, in the Department of Anthropology and in the Native American & Indigenous Studies Program.

GeneWatch 17


Accuracy in Labeling Book Review: Altered Genes, Twisted Truth, by Steven M. Druker. By Phil Bereano

In the months since its publication earlier this year, Steven Druker’s book has been widely circulated among GE campaigners and has been the subject of many internet comments. It contains a wealth of valuable information, some interesting analyses, and many strongly-worded charges against the US government. Indeed, its popularity probably bears some relationship to its unabashed claims that US agencies (particularly the FDA) have acted “illegally,” have committed “fraud,” and have broken the law in numerous ways. As a result, in Druker’s shotgun spray of loaded words, government has been “corrupted,” science is “subverted,” the public “systematically deceived,” environmental protection has been “eroded,” American media has “malfunctioned,” and scientists have become “spin doctors.” This colorful aspect of the book undoubtedly contributes to its apparent popularity. As readers of GeneWatch may already know, the US is alone among major countries in not adopting special legislation to regulate biotechnology. Instead, the anti-regulation, pro-corporate Reagan administration announced a “Co-ordinated Framework” based on existing legislation [51 FR 23302, June 26, 1986].

Although the existing laws do not really cover many of the actual GE commercial activities which have developed, this approach sidestepped any Congressional hearings and any attendant news articles which might have given publicity to the problematic aspects of GE technologies. The Framework rested on three tenets: (1) U.S. policy would focus on the products of genetic engineering techniques, and not the process itself, (2) any regulations must be grounded in verifiable scientific risks, and (3) GE products are merely on a continuum with existing products and, therefore, existing statutes provide sufficient bases for reviewing these products. Druker played an important role in the early days of opposition to genetic engineering policies adopted by the US government. His organization was a principal plaintiff in the first lawsuit, brought by the Center for Food Safety, challenging the FDA’s implementation of this policy. The FDA approach, “non-regulation,” was based on the notion that a GE variety of a food crop was “substantially equivalent” to the unmodified variety. Hence it would be deemed “generally recognized as safe—GRAS” and not regulated. The companies could

Altered Genes, Twisted Truth: How the Venture to Genetically Engineer Our Food Has Subverted Science, Corrupted Government, and Systematically Deceived the Public By Steven M. Druker Clear River Press, 2015.

voluntarily consult with FDA and were obligated to inform the agency if there were new problems arising (eg, allergenicity); this procedure is a bit of a farce since the FDA response to any company submission on a new GE variety clearly states that it is accepting the company’s claims; and if there were serious health risks no company would choose to proceed with developing the food. The FDA also turns a blind eye to the fact that the companies also go to the Patent Office and argue the complete contrary: that the GE varieties were totally new and unlike anything which existed before. Although the lawsuit was not successful,1 during the discovery phase leading into the litigation, documents were received from the FDA files indicating that many of its senior scientists strenuously objected

While strenuously opposing what the FDA has done, I am not comfortable with labeling its actions “illegal.” 18 GeneWatch

June-Sept 2015


to the agency’s approach declining to exercise any real regulatory oversight.2 This revelation has been of significant importance in subsequent citizen oppositional activity. Druker has written an important book which does three main things: (1) provide an interesting history of the early evolution of concerns about GE technology (when it was still a series of laboratory science experiments); (2) compare its evolution with that of the computer; (3) and make charges of official illegality. While the first two subject areas are not particularly noteworthy (interestingly, Druker fails to mention the Council for Responsible Genetics, the world’s first NGO to oppose genetic engineering, in his history), this review will concentrate on Druker’s legal analysis. First, some context, if you will allow this lawyer to indulge: What exactly is “the law” and hence what does “illegal” mean? There are a number of approaches to this question; although an exploration seems highly philosophical, it is actually highly practical and evidenced in many Supreme Court decisions and dissents. This book seems to me to be based on a “natural law” jurisprudential approach, sometimes defined as a belief that the “law” (rights or values) can be found in human reason or human nature. This is an ancient view, reflected in writings of Aquinas, Hobbes, and Locke, among others. Indeed, the first sentence of the Declaration of Independence refers to the “laws of Nature and Nature’s God.” And the second reads in full “We hold these truths to be self-evident, that all men are created equal, that they are endowed by their Creator with certain unalienable Rights, that among these are Life, Liberty and the pursuit of Happiness.” Druker’s frequent claims of governmental “illegality” thus Volume 28 Number 2

appear to me to rest on this sort of an idealized notion of what the law “is” or should be. Although it may be just coincidence, at the time of the Bio-Integrity lawsuit, Druker was active in a “Natural Law Party” which was associated with the Maharishi International University and advocated the practice of Transcendental Meditation; it ran a presidential candidate in three elections before largely dissolving in 2004. The NLP was concerned

specifically enacted or adopted by proper authority for the government of an organized jural society.” A statute and usually an agency’s regulations issued pursuant to statute are examples of this. In one formulation, extreme but often accurate, responding to the conundrum of what is really the basis for a court decision, Judge Jerome Frank is said to have remarked that it “depended on what the judge had eaten for breakfast.” In other words, “the law” consists only

about the reckless growth of genetic engineering; over the years, NLP activists have supported lectures and interviews by NLP authors in many parts of the world and this network has assisted in the spread of their ideas. This seems to be the case with Altered Genes. A very different notion from natural law is, as I was told in law school, that “the law is what the sovereign says it is.” This is called the “positive law” approach and defined in Black’s Law Dictionary as “law actually and

of real-world outcomes. The real world, however, is usually not so clear-cut about jurisprudential philosophies. In truth, we all may hold a bit of each of the different approaches. For example, Justice Scalia argues that there was no idea of gay marriage when the 14th Amendment was enacted (a positive law position), but somehow found that corporations were intended to have free speech rights as well as economic ones (in his own private natural law universe).3 And the struggle GeneWatch 19


underlying many great dramatic trials of the ages (e.g. Galileo charged by the Church for blasphemy in claiming that the earth orbits the sun), is the clash between what the powerful announce as “the law” and what conscience (or telescopic observation) suggest. This book’s major contribution is dealing with this rarified intellectual space in a very down-to-earth way. However, anyone appreciating any validity of a positive law orientation will be continually irked by Druker’s frequently repeated charges that the FDA acted “illegally,” that its policies are “illegal,” and numerous pejorative variations on this theme. Chapter 5, on the Federal framework and the lawsuit against the FDA, is chock full of them. Under either theory of the law, but especially under positive law notions, conduct which is verboten should be clearly delimited. In other words, before something can be called “illegal,” there should be a clear boundary which has been crossed; then the perpetrator is said to have the necessary mens rea (bad intentions), such as is required for criminal prosecution. For certain bad actions, however, there is particular intentionality required. For “fraud,” which Druker frequently charges, intentional and knowing deceit is required. Druker gives no evidence whatsoever of the existence of such state of mind on behalf of any FDA official. Thus, while strenuously opposing what the FDA has done, I am not comfortable with labeling its actions “illegal,” which suggests to most lay readers that criminal conduct has occurred. As a civil libertarian, I am constantly fighting to embody abstract natural law ideals in hard positive law. But I recognize the Federal Framework and the FDA’s use of the cockamamie concept of “substantial 20 GeneWatch

equivalence” to be bad policy choices, adopted under the pressure of powerful economic and political interests; a bad or wrong exercise of power, but not an “illegal” one. Druker’s book tells us a lot about “what” happened, but it is limited by not sufficiently exploring the “why.” Although he touches very lightly on aspects of the sociology of science to probe the spectacle of “rational” scientists uttering so much nonsense, he does not use the insights of that discipline sufficiently. And he does not do much at all to systematically analyze the factors leading to the US government acting “illegally.”4 Altered Genes, Twisted Truth contains a great deal of information for the interested citizen/activist and seems to be reaching such an audience. I just hope readers testifying at the next legislative hearing on GE don’t insist that the Feds are acting illegally in not regulating the technology. The FDA is attacked as being rogue on many fronts—supporting vaccines, advocating water fluoridation, and the like. I have been squeamish, however, when my work is lumped together with the claims of illegal action made by anti-vaxxers. nnn Phil Bereano, JD, was a co-founder of the Council for Responsible Genetics and AGRA Watch. He participated in the negotiations of the Cartagena Biosafety Protocol, its Supplemental Protocol on Liability and Redress, and meetings of the UN’s Codex Alimentarius dealing with GE food issues, such as labeling.

Endnotes Mozersky and Rapp, p. 4 1. De Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet. 2015 Apr 1;167(4):756–67. Available from: http://onlinelibrary.wiley. com/doi/10.1002/ajmg.a.37001/abstract 2. Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, et al. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health. 2015 Jan 16;7:113–26. Available from: http://www.ncbi.nlm. nih.gov/pmc/articles/PMC4303457/ 3. Ibid. 4. Allyse M, Chandrasekharan S. Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond. Genet Med. 2015 Mar 19. Advanced online publication. doi: 10.1038/gim.2015.23 5. Daley B. 2014. Oversold prenatal tests leading to abortions. The Boston Globe. Dec 14. Available from: https://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenataltests-leading-abortions-healthy-fetuses/ aKFAOCP5N0Kr8S1HirL7EN/story.html 6. Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015 Mar 18; Available from: http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg201557a.html 7. De Graaf et al. 8. Child Health USA 2013. Available from: http://mchb.hrsa.gov/chusa13/ health-services-utilization/p/ prenatal-care-utilization.html 9. Allyse, Minear, et al.

Barragán, p. 11 1. Benjamin, Ruha (2009). “A lab of their own: genomic sovereignty as postcolonial science policy”. Policy and Science 28(4): 341-355. 2. BBC (2008). “Study unlocks Latin American past”. Available at: http:// news.bbc.co.uk/1/hi/7307563.stm (Accessed on Friday, March 21, 2008) 3. {Wang et. al 2008}

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4. Stolcke, Verena (2008). “Los mestizos no nacen sino que se hacen”. In: Stolcke, Verena and Alexandre Coello (eds.), Identidades ambivalentes en América Latina (Siglos XVI-XXI), pp. 14-51. Barcelona, Bellaterra. 5. See BEDOYA, Gabriel et al. (2006). “Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate”. Proceedings of the National Academy of Sciences of the United States of America 103(19): 7234-7239. 6. BRYC, Katarzyina et al. (2010). “Genomewide patterns of population structure and admixture among Hispanic/ Latino populations”. Proceedings of the National Academy of Sciences of the United States of America 107(Supplement 2): 8954-8961. 7. MONTOYA, Michael (2011). Making the Mexican diabetic. Race, science, and the genetics of inequality. Berkeley and Los Angeles, University of California Press.

González, p. 14 1. Robles-Alvarado, P. (2016, forthcoming). “When They Call My Name.” Since We Couldn’t Shake Our Skin: An Anthology of Afro-Latino Poets. Melissa Castillo Garsow (ed.). Houston: Arte Publico Press. 2. Martinez-Cruzado, J.C. (2001). “Mitochondrial DNA Analysis Reveals Substantial Native American Ancestry in Puerto Rico.” Human Biology 73 (4): 491 – 511.; Martinez-Crudado, J.C. (2002). “The use of Mitochondrial DNA to Discover Pre-Columbian Migrations to the Caribbean: Results for Puerto Rico and Expectations for the Dominican Republic.” KACIKE: The Journal of Caribbean Amerindian History and Anthropology [on-Line Journal] (Special Issue, Lynne Guitar, Ed.). <<https:// archive.org/stream/KacikeJournal_34/ MartinezEnglish#page/n0/mode/2up>> Accessed on 14 July 2015.; MartinezCruzado, J.C., G. Toro-Labrador, J. Viera-Vera, M. Y. Rivera-Vega, J. Startek, M. Latorre-Esteves, A. Roman-Colon, et al. (2005). “Reconstructing the Population History of Puerto Rico by Means of mtDNA Phylogeographic Analysis.” American Journal of Physical

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Anthropology. 128 (1): 131 – 155. 3. DNA sequencing, be it mtDNA, Y-chromosome or Autosomal DNA, has revealed a substantial American Indian genetic presence in people from most of the major islands of the Caribbean, such as the Dominican Republic, Jamaica, Dominica and Aruba. See: Benn Torres, J., R. A. Kittles, and A.C. Stone. (2007). “Mitochondrial and Y Chromosome Diversity in the English-Speaking Caribbean.” Annals of Human Genetics. 71 (Pt 6): 782 – 790.; Velez, A. F. (2006). Genetic Prints of Amerindian Female Migrations through the Caribbean Revealed By Controlled Sequences From Dominican Haplogrouup A Mitochondrial DNAs. M.S. Thesis. University of Puerto Rico at Mayaguez. 4. Fernandez-Cobo, M., D.V. Jobes, R. Yanagihara, V.R. Nerurkar, Y. Yamamura, C. F. Ryschkewitsch, and G.L. Stoner. (2001). “Reconstructing Population History using JC Virus: Amerinds, Spanish, and Africans in the Ancestry of Modern Puerto Ricans.” Human Biology. 73 (3): 385 – 402.; Gravel, S., F. Zakharia, A. Moreno-Estrada, J. Byrnes, M. Muzzio, J.L. Rodriguez-Flores, E.E. Kenny, et al. (2013). “Reconstructing Native American Migrations from Whole-Genome and Whole-Exome Data.” PLOS Genetics. 9 (12): 1 – 14.; “Laboratory of Genomic Diversity at UPR: The Taino Genome Project.” <<https://sites.google.com/a/ upr.edu/dna-lab/1000genomes/thetaino-genome-project>> Accessed on 14 July 2015.; Vilar, M. C. Melendez, A.B. Sanders, A Walia, J.B. Gaieski, A.C. Owings, T.G. Schurr, and The Genographic Consortium (2014). “Genetic Diversity in Puerto Rico and Its Implications for the Peopling of the Island and the West Indies.” American Journal of Physical Anthropology. 155: 352 – 368. 5. Puerto Rican ancestry derived from other parts of world, from the Middle East, Asia and throughout Europe often get neglected in this racial-cultural tri-partite imagining of the Puerto Rican people. 6. Las Casas, B. (1992). The Devastation of the Indies. (c. 1552). Translated by H. Briffault. Baltimore and London: John Hopkins University Press.; Pane, Ramon. (1999). An Account of the Antiquities of the Indians. (c.1498). Introductory Study and Notes by J.J. Arrom. Translated by S. C. Griswold. Duke and London:

Duke University Press.; Rouse, I. (1992). The Taínos: Rise & Decline of the People Who Greeted Columbus. New Haven and London: Yale University Press. 7. Brau, S. (1983). Historia de Puerto Rico. (c. 1917). Río Piedras [Puerto Rico]: Editorial Edil.; Castanha, T (2013). The Myth of Caribbean Indigenous Extinction: Continuity and Reclamation in Boriken (Puerto Rico). New York: Palgrave Macmillan.; Figueroa, L. (1971). Breve historia de Puerto Rico. Río Piedras [Puerto Rico]: Editorial Edil. 8. Benn Torres, J. (2014). “Prospecting the past: genetic perspectives on the extinction and survival of indigenous peoples of the Caribbean.” New Genetics and Society. 33 (1): 21 – 41.; Forte, M. (2006). Indigenous Resurgence in the Contemporary Caribbean: Amerindian Survival and Revival. New York: Peter Lang. 9. Haslip-Viera, G. (2008). “Amerindian mtDNA Does Not Matter: A Reply to Jorge Estevez and the Privileging of Taino Identity in the Spanish-speaking Caribbean.” Centro Journal 20 (2): 228. 10. For an argument which attempts to link contemporary Taíno resurgence to statist uses of Taíno as a symbol of the (preferred) “first root” of Puerto Rican culture and society, often over the colonizing “Spanish root,” and to the effacement of the enslaved “African root,” see the volume edited by Gabriel Haslip-Viera (2000) Taino Revival: Critical Perspectives on Puerto Rican Identity and Cultural Politics. New York: Latino Scholars Press. 11. Estevez, J. (2008). “The mtDNA Debate: A Diàlogo on ‘How Important Is It?’” Centro Journal. XX (2): 218 – 228. 12. For debates on recovering indigeneity through mestizaje and specifically mestizo genomics, but focusing mostly on Mexico, Colombia and Brazil, see: Wade, P., Lopèz-Beltràn, C., et al (eds.) (2014). Mestizo Genomics: Race Mixture, Nation, and Science in Latin America. Durham: Duke University Press. 13. In October 2011, Nature News published an article on studies conducted by Dr. Carlos Bustamante on the Taíno Genome Project that controversially claimed to have discovered genes of the “extinct” Taíno in people throughout the present-day Caribbean. The article was titled “Breathing Life into an Extinct Ethnicity,” which was quickly changed

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to “Rebuilding the Genome of a Hidden Ethnicity” with an apology issued by Dr. Bustamante after a firestorm of complaints by Taíno-identified people and cultural anthropologists online. See: Bardill, J. (2012). “Science as Empire and Resistance: The Case of Taino Genomics and Indigenous Identity.” Paper presented at the American Studies Association Annual Meeting, San Juan, Puerto Rico.; Hawks, J. “Watch who you call ‘Extinct’!” John Hawks Web blog. Published 26 Oct 2011. <<http://johnhawks.net/weblog/ topics/race/taino-extinct-1000-genomes-2011.html>> Accessed 29 July 2015.; Kahn, R. “Blog: Gene Expression: The Perils of Human Genomics.” Discover Magazine Online. Published 25 Oct 2011. <<http://blogs.discovermagazine.com/ gnxp/2011/10/the-perils-of-humangenomics/#.Vb9-rflViko>>. Accessed on 18 July 2015.; Young, S. “Rebuilding the Genome of a Hidden Ethnicity.” Published on 14 Oct 2011. Corrected on 17 Oct 2011. <<http://www.nature.com/ news/2011/111014/full/news.2011.592. html>> Accessed on 15 March 2015. 14. Norris, Tina, P. Vines, E.M. Hoeffel (2012). The American Indian and Alaska Native Population: 2010 Census Briefs. C2010BR-10. << http://www.census.gov/ prod/cen2010/briefs/c2010br-10.pdf>>. 15. Moya-Smith, S. (2014). “NYC ‘Gathering of Nations’: Hustle, Bustle, Tainos, and No Buses.” Indian Country Today Media Network. Published on 9 June 2014. <<http://indiancountrytodaymedianetwork.com/2014/06/09/nyc-gatheringnations-hustle-bustle-tainos-and-no-buses-155220>>. Accessed on 01 July 2015. 16. Consejo General de Tainos Borikanos, “Origenes del Movimiento Taino en Boriken,” Trujillo Alto, Boriken, Anacaotoao@yahoo.com. This document prepared by the head of the organization, Elba Lugo, identifies the earliest Taino resurgent activity in Puerto Rico to 1978. 17. United Confederation of Taino People, (2008). “About: UCTP Declaration and Articles of Confederation.” Published on 26 June 2008. << http://www. uctp.org/index.php?option=com_co ntent&task=view&id=12&Item id=26>> Accessed on 14 July 2015. 18. Bolnick, D., D. Fullwiley, T. Duster, R.S. Cooper, J.H. Fujimara, J. Kahn, J. Marks et al. (2007). “The Science and Business of Genetic Ancestry

22 GeneWatch

Testing.” Science. 318: 399 – 400. 19. I draw from the following scholars to highlight some of the methodological limitations and assumptions of the genetic science and genetic genealogical tests: Bamshed, M., S. Wooding, B. Salisbury, and C. Stephens. (2004). “Deconstructing the Relationship Between Genetics and Race”. Nature. 5: 598 – 609.; Benn Torres, J. (2014). “Prospecting the past: genetic perspectives on the extinction and survival of indigenous peoples of the Caribbean.” New Genetics and Society. 33 (1): 21 – 41.; Bolnick, D., D. Fullwiley, T. Duster, R.S. Cooper, J.H. Fujimara, J. Kahn, J. Marks et al. (2007). “The Science and Business of Genetic Ancestry Testing.” Science. 318: 399 – 400.; Condit, C.M. “How Culture and Science Make Race ‘Genetic’: Motives and Strategies for Discrete Categorization of the Continuous and Heterogeneous”. Literature and Medicine. 26 (1): 240 – 268.; Kolopenuk, J. “Wiindigo Incarnate: Consuming ‘Native American DNA’.” GeneWatch 27 (2): 19 – 21; TallBear, K. (2013). “Genomic Articulations of Indigeneity.” Social Studies of Science. 43 (4): 509 – 533.; Pollack, R., P. Williams. (2014). “Who You Really Are.” GeneWatch. 27 (2): 4 – 7.; TallBear, K. (2013). Native American DNA: Tribal Belonging and the False Promise of Genetic Science. Minneapolis and London: University of Minnesota Press. 20. Unlike mtDNA and Y-chromosome sequencing, tests that examine genome-wide markers are more likely to identify even a small percentage of indigenous genetic ancestry. TallBear, K. (2013). Native American DNA: Tribal Belonging and the False Promise of Genetic Science. Minneapolis and London: University of Minnesota Press. 21. Kolopenuk, J. “Wiindigo Incarnate: Consuming ‘Native American DNA’.” GeneWatch 27 (2): 19 – 21; TallBear, K. (2013). “Genomic Articulations of Indigeneity.” Social Studies of Science. 43 (4): 509 – 533.; TallBear, K. (2013). “Genomic articulations of indigeneity.” Social Studies of Science. 43 (4): 509 – 533.; TallBear, K. (2013). Native American DNA: Tribal Belonging and the False Promise of Genetic Science. Minneapolis and London: University of Minnesota Press. 22. Kolopenuk, J. “Wiindigo Incarnate:

Consuming ‘Native American DNA’.” GeneWatch 27 (2): 19 – 21; Kolopenuk, J. (2014). “Becoming Native American: Facializing Indigeneity in Canada through Genetic Signification and Subjection.” Paper presented at Native American & Indigenous Studies Association Annual Meeting, University of Texas at Austin, Austin, Texas.; TallBear, K. (2013). “Genomic Articulations of Indigeneity.” Social Studies of Science. 43 (4): 509 – 533.; TallBear, K. (2014). “From ACTGs to NDNs: Dear Dr. TallBear, Help Me Find the Indian in My Molecular Tree?” Paper presented at the Native American & Indigenous Studies Association Annual Meeting, University of Texas at Austin, Austin, Texas. 23. Bardill, J. et al. (2012). “Collaboration and Reclamation through Genomics in Uruguay, Canada and Puerto Rico.” Paper presented at the Institute for Genomic Biology at the University of Illinois at Urbana Champaign, Urbana, Ill.; Bardill, J. (2012). “Science as Empire and Resistance: The Case of Taino Genomics and Indigenous Identity.” Paper presented at the American Studies Association Annual Meeting, San Juan, Puerto Rico.; Kent, M. (2013). “The importance of being Uros: Indigenous identity politics in the genomic age.” Social Studies of Science. 42: 534 – 556. 24. Morales, E. (2014). “Puerto Rico’s Dance with Debt. Puerto Rico is mired in debt and facing default. And US colonialism is one of the main culprits.” Jacobin Magazine. Published on 16 June 2015. << https://www.jacobinmag.com/2015/06/ puerto-rico-garcia-padilla-debt-austerity/>>. Accessed on 21 June 2015. 25. Allen, G. M. Penaloza. “Puerto Rico is Sowing a New Generation of Small Farmers.” NPR. Published on 06 May 2015. << http://www.npr.org/sections/ thesalt/2015/05/06/404649122/puerto-rico-is-sowing-a-new-generation-of-smallfarmers>> Accessed on 06 May 2015. 26. Castanha, T (2013). The Myth of Caribbean Indigenous Extinction: Continuity and Reclamation in Boriken (Puerto Rico). New York: Palgrave Macmillan. 27. Benn Torres, J. (2014). “Prospecting the past: genetic perspectives on the extinction and survival of indigenous peoples of the Caribbean.” New Genetics and Society. 33 (1): 21 – 41.; Feliciano-Santos,

June-Sept 2015


From the Council for Responsible Genetics S. (2011). “An Inconceivable Indigeneity: The Historical, Cultural, and Interactional Dimensions of Puerto Rican Taino Activism.” Unpublished PhD. University of Michigan.

Bereano, p. 18 1 Alliance for bio-Integrity v. Shalala, 116 F.Supp 2d 166 (D.D.C. 2000) 2 For example, Linda Kahl, Ph.D., an FDA compliance officer, wrote in a January 1992 memo “Are we asking the scientific experts to generate the basis for this policy statement in the absence of any data?” . . . . There is no data that could quantify risk.” 3 For example, in June’s Marriage Equality decision of the Supreme Court, Justice Kennedy’s majority opinion is replete with natural law elements, focusing on the abstract concept of human “dignity” and the evolving meaning of the Constitution’s “equal protection” and “due process” phrases; more than one of the dissents is based on positivism-- the fact that the authors of those phrases in the 14th Amendment meant Black people, not gay ones. 4 The ideology supporting the biotech industry has not been limited to the Reagan era. E.g, the Clinton Administration issued a White Paper setting forth an elaborate (but really simplistic story of American progress being based on a succession of technologies—the canals, railroads, telegraph, electrification, automobiles, aviation, TV, computers— claiming that genetic engineering was the next technical wonder to propel us to endless prosperity. Thus the industry could not be sent any “negative signals” (eg, labeling GE foods). The US government has continued to advance corporate interests through all administrations, by initiating a WTO challenge against the EU’s regulations, and by pressuring other countries, particularly in the Third World, to rely on the technology, as in Obama’s “New Alliance for Food Security and Nutrition in Africa”

The GMO DecepTiOn What You Need to Know about the Food, Corporations, and Government Agencies Putting Our Families and Our Environment at Risk

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“If you do not understand why there is so much opposition to GMOs, nationally and internationally, this book is the place to start.” —Marion Nestle, professor of nutrition, food studies, and public health at New York University and author of Eat Drink Vote: An Illustrated Guide to Food Politics “The GMO Deception is the most comprehensive resource covering all areas of this complex topic.” —Ken Roseboro, editor and publisher, The Organic & Non-GMO Report

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GeneWatch Vol. 28 No. 2  

Genomics in the Developing World

GeneWatch Vol. 28 No. 2  

Genomics in the Developing World

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