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Representing vulnerable populations in genetic studies: The case of the Roma



Argument Moreau (2019) has raised concerns about the use of DNA data obtained from vulnerable populations, such as the Uighurs in China. We discuss another case, situated in Europe and with a research history dating back 100 years: genetic investigations of Roma. In our article, we focus on problems surrounding representativity in these studies. We claim that many of the circa 440 publications in our sample neglect the methodological and conceptual challenges of representativity. Moreover, authors do not account for problematic misrepresentations of Roma resulting from the conceptual frameworks and sampling schemes they use. We question the representation of Roma as a “genetic isolate” and the underlying rationales, with a strong focus on sampling strategies. We discuss our results against the optimistic prognosis that the “new genetics” could help to overcome essentialist understandings of groups.
Representing vulnerable populations in genetic studies:
The case of the Roma
Veronika Lipphardt1*, Gudrun A. Rappold2and Mihai Surdu1
1Albert Ludwig University Freiburg and 2University of Heidelberg
*Corresponding author. Email:
Moreau (2019) has raised concerns about the use of DNA data obtained from vulnerable populations, such
as the Uighurs in China. We discuss another case, situated in Europe and with a research history dating
back 100 years: genetic investigations of Roma. In our article, we focus on problems surrounding repre-
sentativity in these studies. We claim that many of the circa 440 publications in our sample neglect the
methodological and conceptual challenges of representativity. Moreover, authors do not account for
problematic misrepresentations of Roma resulting from the conceptual frameworks and sampling schemes
they use. We question the representation of Roma as a genetic isolateand the underlying rationales,
with a strong focus on sampling strategies. We discuss our results against the optimistic prognosis that
the new geneticscould help to overcome essentialist understandings of groups.
Keywords: Vulnerable populations; Roma; sampling; representativity; genetic isolation
All European Roma,states an article published in 2015 in the European Journal of Human
Genetics,appear to descend from a low number of founders, and to have diverged into socially
distinct endogamous groups after their arrival in Europe(Martínez-Cruz et al. 2015, 2). This
grand claim may provoke questions in readers not trained in genetics. How can someone make
such a general claim about all European Roma? And why is this knowledge framed in such
puzzling terms? Or, to start off more broadly, what, after all, is known about the Roma?
How are the boundaries of Europe defined? What would be necessary in order to provide reliable
knowledge about the Roma? Who is a Roma, or what criteria would allow us to distinguish Roma
from others?1And why, or how, can genetics contribute to all of this?
© The Author(s), 2022. Published by Cambridge University Press. This is an Open Access article, distributed under the terms of the
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1The grouping of Roma in one homogenous category has a long history, and it is beyond the scope of this article to retrace
it. The term Romawas introduced in political and academic discourse to replace the term Gypsiesafter 1971, when the
first World Romani Congress was held. Gypsiesis considered a pejorative term by many who identify as Roma, though
others self-identify as Gypsiesin censuses, interviews or other situations. Even though ethnic self-identification is considered
state-of-the-art in census taking, some state administrations still employ the term Romafor classifying people who would
not self-identify as such. For example, some groups who are counted under the category Romawould self-identify as
Egyptians and Ashkali (in Macedonia, Kosovo and Albania), Boyash or Rudars (in Romania, Serbia, Croatia and
Hungary). The Council of Europes (CoE) understanding of the term Romais widely used in policy reports and academic
publications: The term Romaused at the Council of Europe refers to Roma, Sinti, Kale and related groups in Europe,
including Travellers and the Eastern groups (Dom and Lom), and covers the wide diversity of the groups concerned, including
persons who identify themselves as Gypsies(CoE 2012, 4). The CoE comes close to an essentialist definition of Roma, linking
ethnic belonging with ancestral origin: The term Roma, as used internationally, denotes all groups sharing a common Indian
origin (Roma, Sinti, Kale), and the communities who refer to themselves as Roma, found mainly in the Balkans and central
and eastern Europe, but also throughout the world(2012, 7). Although we consider it problematic to use the term Romato
Science in Context (2021), 34,69100
doi:10.1017/S0269889722000023 Published online by Cambridge University Press
Far from being able to answer these questions, we instead wish to examine how some geneti-
cists have answered them in DNA studies in the last thirty years. These answers include frequent
statements about how genetics can contribute to ones understanding of the Roma, how little had
been known about the history of Roma before these studies, and how much knowledge there is still
to gain through future genetic investigations of Roma. For example, a press release announced a
new genetic study in 2012: The Romani people,it said, lack written historical records on their
origins and dispersal(Cell Press 2012). To fill in the gaps,geneticists had gathered genome-
wide data from 13 Romani groups collected across Europe to confirm an Indian origin for
European Romani, consistent with earlier linguistic studies(ibid). The release quotes co-author
David Comasclaim that: Their marginalized situation in many countries also seems to have
affected their visibility in scientific studies.One co-author of this study is quoted with an evalu-
ation of the wider usefulness of genetic data from Roma, arguing that: Our study clearly illustrates
that understanding the Romanis [sic] genetic legacy is necessary to complete the genetic charac-
terization of Europeans as a whole, with implications for various fields, from human evolution to
the health sciences(ibid). An unknown genetic legacy; a potential Indian origin; a history of
marginalization and invisibility; gaps in historical records; the Europeansdesire for genetic char-
acterization; human evolution and human health: all those appeals to knowledge are woven
together in a single statement that invokes the unknown and emphasizes the potential.
Yet Roma have not been invisibleto scientific study, and a continuous stream of publications
focusing on the heredity and genetics of Roma have been published over the past hundred years,
resulting in more than 440 publications between 1921 and 2019. About 75% of these (ca. 340) were
published in the past thirty years - approximately 220 of them in the field of medical genetics, 75 in
population genetics and 45 in forensic genetics.2Those studies analyze, compare, discuss or other-
wise draw conclusions on DNA data obtained from individuals labeled Roma.In forensic
genetics journals, Roma have been the most intensely studied population in Europe over the past
thirty years.3It seems the geneticists who pursue those studies have extensive data and knowledge
in their field upon which to build.
In this paper, we examine how exactly those authors make their claims of what is known and what is
not known about the Roma, and we examine how Roma groupness and ethnicity is concluded upon
in those genetic studies. We understand our approach as firmly rooted in Science and Technology
Studies (STS). In this field, numerous publications have tackled issues of genetics and society, and
our work draws on and contributes to this strand of research. With this paper, we wish to address a
broad audience geneticists as much as social scientists as well as humanities scholars some of
whom would perhaps not be ready to follow through the kind of theoretical debate usually
introduced in an STS paper. Accordingly, we contextualize our findings within the relevant STS
scholarship rather sparsely in this section and more towards the end of this paper. Our goal is
to involve colleagues from all relevant disciplines in an interdisciplinary debate. Hence, both our
approach and vocabulary must take a form that facilitates communication across disciplines.4
This, however, is challenging. Already the abstract of this text has probably triggered reactions
in some readers. Some scholars from the social sciences and humanities, following their first
ascribe ancestral origins to people who do not self-idenfy accordingly, or as an umbrella category in censuses and expert
estimates (see Surdu 2016), we use it in this article to refer to the persons addressed as Roma, Gypsiesor Roma/
Gypsiesin genetic studies and those who are subsumed as European Roma populationin these studies.
2Not included in this analysis are ca. 70 seroanthropological studies published between 1921 and 1994.
3For an overview of ethically problematic aspects of using DNA data of Roma in forensic contexts see Lipphardt, Rappold
and Surdus article (under review), Ethical Standards in Forensic Genetic Research - a Critical Appraisal of Roma Studies.
4Further publications are in the making. In Freiburg, we are closely collaborating with colleagues from the life sciences
(biologists, epidemiologists) and mathematicians.
70 Veronika Lipphardt et al. Published online by Cambridge University Press
impulse, might consider any genetic research on minority groups such as Roma as ethically prob-
lematic. On a fundamental level, from their perspective, approaching and describing Roma with
genetic concepts, terms and methods seems like a reprehensible echo of particularly dark historical
As justified as such concerns might seem to those readers, others who have training in genetics
might think differently. Geneticists involved in these studies would think that they are applying
the same methodological tools here as they would for any other ethnic group. After all, many of
these studies state that they have passed the appropriate ethical procedures or have been approved
by relevant institutions, such as ethical committees. After much public debate about ethics in
human genetics and human variation research over the past three decades, members of the
genetics community would certainly say they seek the ethically most appropriate, or the least
offensive and harmful approach they can think of. Within those boundaries, the object of curiosity
is justified by its significance, or by its informative value. In the case of the Roma, according to
many genetic studies, this value is believed to be especially high, as we shall demonstrate below.
One could approach these differences from the perspective of ethics of science, a field of
growing importance, or from the perspective of science policy, highlighting international agree-
ments for ethical standards in genetic research. For the sake of brevity, these perspectives are not
taken here, but in another paper that discusses ethical aspects of genetic studies of Roma
(Lipphardt, Rappold and Surdu 2022, under review).
Yet between questions about ethical approval procedures and worries about the repercussions
of historical moments, there is another level of critical awareness for the potential shortcomings of
genetic studies of vulnerable groups. Coming from the perspective of sociology and epistemology,
scholars have warned against the essentializing and reifying effects of representing ethnic groups,
and have asked pressing questions about how legitimate an object of scientific curiosity ethnic
groups can be. Many social sciences and humanities scholars, as well as interdisciplinary author
panels, have discussed the risks of geneticization, essentialism and genetic determinism in this
context. Most of these critics have not simply rejected genetic studies of vulnerable populations,
but oftentimes seek a more nuanced and differentiated approach and call for heightened ethical
Rogers Brubaker, an UCLA-based sociologist, writes about population genetics and the newly
respectable biological objectivism about race(Brubaker 2015, 54). He warns against simply reas-
serting the usual mantra that there are no biologically significant differences between socially
defined racial categories(Brubaker 2015, 55). Rather, Brubaker explains, it is not that socially
defined racial categories are entirely arbitrary, bearing no relation to biogeographic and biogenetic
ancestry. Since social understandings of race and ethnicity emphasize origins and descent, it
would be surprising if socially defined ethnic and racial categories did not capture, in a crude
way, some information about biogeographic and biogenetic ancestry(Brubaker 2015, 83).
To be sure, Brubaker does not ask us to simply adopt the idea that social groups neatly overlap
with racial categories. Rather, he claims that genomics can at least crudely infer self-identified
ancestry or race from genotype. It cannot, however, make the opposite inference: If there is infor-
mation on the self-identified ancestry or race of an individual, one cannot infer their genotype.
This is because genetic variation does not take the form of discrete and sharply bounded groups
(Brubaker 2015, 82-3).
5To name but a few who have demonstrated that cultural, political and social preassumptions about human groups not only
inform the research designs, group labels and collection of DNA data, but also reinforce existing stereotypical group notions
concerning ethnic or racial minorities, vulnerable and marginalized groups, see: Fujimura et al 2014; Bliss 2015,2018; Duster,
2015; Fullwiley 2015; Gannett 2014; Lipphardt 2014,2019;Mcharek, Schramm, Skinner 2014; Radin and Kowal 2015;
Munsterhjelm 2014; Rajagopalan, Nelson and Fujimura 2017; Reardon 2017; Schwartz-Marin et al. 2015; Tallbear 2013
and Wade et al. 2014.
Science in Context 71 Published online by Cambridge University Press
Others have warned more strongly against neglecting the disconnects between ethnic or racial
labels and genotypes, and pointed to the importance of considering the sampling as a critical
moment in genetic research on human variation (Fujimura et al. 2014; Nash 2013). Brubaker,
too, is well aware of the risks of the new objectivism,noting that: By providing a natural foun-
dation for social identities, geneticization can essentialize, even absolutize understandings of
difference(Brubaker 2015, 54). But Brubaker hopes that there is also something to gain from
embracing the new objectivism a kind of de-essentialization that could ultimately help to fight
racism. By highlighting the genetic heterogeneity within any collectivity, the dominance of
within-group over between-group variation, and the histories ancient and modern of migra-
tion, gene flow, and admixture,he argues, geneticization can undermine understandings of pure,
internally homogeneous, externally bounded groups(Brubaker 2015, 54).
Genetic variation understood as non-discrete, not sharply bounded, not pure and not struc-
tured into homogeneous groups: without doubt, many geneticists would subscribe to this under-
standing of human genetic differences. Some population geneticists may be deeply engaged in a
research agenda along these lines. This perception is strongly represented in Brubakers ground-
breaking book Ethnicity without groups (2004), with its influential critique of essentialist and
deterministic understandings of groups and ethnicities.
But seen from the perspective of the groups or ethnicities that have been studied as distinct
genetic populations, genetics does not look unified in this regard. Non-essentialist understandings
of genetic variation have too often not been the guiding principle for the geneticists. Some classical
examples for genetically isolated populations have never been framed in other than essentialist
ways. They have invariably been described as discrete, sharply bounded, more or less homoge-
neous groups. The Roma are but one example for which Brubakers hope is not justified: the
undermining of essentialist understandings of groupness by genetic studies has not worked in
their case.
A number of studies from the social sciences and from STS (science and technology studies) on
special populations in genetics and genomics have appeared in the past decade. These have
addressed, for example, populations in Brazil (Santos, Da Silva and Gibbon 2014), Mexico
(Benjamin 2009), and other South American countries (Kent et al. 2015); Iceland (Pálsson
2008), Finland (Tupasela 2016), Quebec (Hinterberger 2012), Singapore (Ong 2016), and
Taiwan (Tsai 2010). Reardon (2005) and Mcharek (2005) have written about isolated populations
in the Human Genome Diversity Project (HGDP). Munsterhjelm (2014) demonstrated how the
Karitiana, a small indigenous group in Brazil, became famous in forensic circles: not because
they were so overtly special, but because their genomes, accessed without their consent, were
so readily available to forensic geneticists, and were such effective research tools due to their
supposed isolation and inbreeding (Musterhjelm, 290).
Genetic studies on Roma, however, have hardly been the focus of social scientists, or at least not
in comparable depth (Cazacu et al. 2013; Myers 2019). Nevertheless, these very few social sciences
studies have added new insights: Geneticists have conceptualized Roma as different from other
genetic isolates, as a very specific isolate indeed. Similar to Jews, they are seen as a transnational
isolate or a diaspora group (Jobling 2014, 448). But in contrast to Jews, the authors of these studies
believe, Roma have no written recordsof their own history, and in contrast to religious commu-
nities such as the Amish, they have no genealogies (Floersch, Longhofer and Latta 1997). In
contrast to Native Americanswho are viewed as indigenous groups (Tallbear 2013), Roma
are depicted as a foreign population, while the comparison groups are seen as indigenousor
autochthonous populations. Unlike the Karitiana, a group with only a few hundred individuals,
the Roma in Europe officially count several millions, which allows for very different research
designs. The Finns, another so-called genetic isolate in Finland, have attracted much of the geneti-
cistsinterest since the 1980s (Tupasela 2016; Tarkkala and Tupasela 2018), but the Finns are not
seen as a transnational isolate- for obvious reasons.
72 Veronika Lipphardt et al. Published online by Cambridge University Press
Other differences between the Roma and other so-called genetic isolatesmight strike the
social scientist much more than the geneticist. The history of Roma being studied as a genetic
isolate started a hundred years ago; and much more than the Finns, Roma are considered to
be a vulnerable minority that remain heavily discriminated against even today. In contrast to
the Saami, who established a Saami council in 1956, there is no Roma constituency that could
prompt or preclude research, or successfully claim some of its economic benefits.
The geneticists studying Roma would say that genetics regards them as a genetically isolated
population (see, for example, a separate chapter in a text book on human evolutionary genetics by
Mark Jobling 2014, 448), and therefore they are justifiably viewed as a genetically bounded group.
Yet this view misses an important point: Adopted as a conceptual premise, and then turned into a
sampling strategy for genetic studies, the rationale of the isolated populationbecomes a circular
logic, a self-fulfilling prophecy. To highlight this tautology is the main aim of this paper.
An advanced social sciences approach would firstly check the geneticistsgroupness claims
against state-of-the-art academic literature about Roma, and secondly ask for the representation
of Roma in the genetic studies. An advanced life sciences approach would seek to reproduce
research results with DNA data and then ask for a thorough inspection in terms of scientific stand-
ards. Regarding ethical questions, there would likely be a convergence of life science and social
science critics of genetic essentialization.
In what follows, we leave aside most of these questions, and concentrate on one aspect we deem
to be of interest for all sides: representativity. Whether a phenomenon is captured well in a scien-
tific study depends much on adequate methodological considerations about how to represent it.
If the main unit under investigation is all European Roma,or European Roma,or, as we may
still find in studies even today, Gypsies,then the obvious question is how to represent this main
unit in a scientifically sound way.
In a social sciences methodology course, students learn what a main investigation unit
(or population or universe) is, how it should be represented, and what methodological flaws
one must avoid. In political science, students would learn how citizens of a nation state are to
be represented. For some geneticists, however, this kind of social or political representativity
(i.e., the question of how can a small number of people represent a large number of people such
as a nation states population) has not been a center of concern in the past.6Asking test subjects to
self-assign to an ethnic category has become routine in biomedical research,7but this is not the
same as representing populations and their history.
What is known and knowable about the Roma through genetic studies, then, depends on
how Roma are recruited, sampled and represented in DNA databases. Whether the Roma (the
European Roma, or the Roma in any given country such as Bulgaria, Romania, Hungary or
Spain) are represented adequately in DNA databases is hence as much an issue for scholars from
the social sciences and humanities as it is an issue for geneticists. No discipline alone can come to a
conclusive judgement on this issue without consulting the other.
With a qualitative approach8to genetic studies of Roma published in the past three decades, we
aim to point out the conceptual challenges of representativity. From several hundred, we have
selected a handful of studies for a focused analysis, most of them from the field of population
genetics with a main interest in the migration history of Roma. (Some medical genetic studies
are included and indicated as such; we are aware that the challenges of representativity are
not the same in population and medical genetics.) We have selected these studies for their recent
6More specifically, some have sought to overcome the limitations of small samples by technological solutions. But these
solutions draw on the reconstruction of a supposed biological population; that is, a number of people sharing common biolog-
ical ancestors, and not a politically or socially defined population.
7To be sure, this is standardized routine in English speaking countries such as the US, Canada, and Great Britain, but not -
or much less so - in other countries.
8In subsequent publications, we will use quantitative methods for a statistical analysis of our text collection.
Science in Context 73 Published online by Cambridge University Press
publication date and their academic and public impact, and not because we think that they belong
to the ethically and methodologically most problematic papers in our sample.
We do not discuss the selected genetic studies and their results in depth, but concentrate on
sampling practices and representativity. Ethical questions, despite unavoidably popping up in
Lipphardt et al. (2021). In spite of the problematic aspects we are going to point out, it is still
important for us to state that in studies from the past ten years, we have noticed a trend towards
more transparency regarding ethical procedures, self-assignment in recruitment, more cautious
wording and more balanced methodologies. The papers we discuss embrace up-to-date critical
awareness to varying degrees, but nevertheless reveal a lack of societal awareness that has conse-
quences for research designs, methodologies and findings.
For simplicity, in what follows, sometimes the geneticists involved in the genetic studies on
Roma are called authors.
What do authors of genetic studies claim to know about the Roma?
Our examination of the authorsepistemic claims about Roma begins with numbers. How many
Roma are there in Europe? Nobody knows, and there is no good way of knowing (Surdu 2016,
2019). States count their citizens, which leads to more or less accurate numbers, but there is no
such count for all European Roma. Where Roma census numbers exist, state authorities (but also
scholars, international organizations or Roma leaders) do not trust them to be correct: Roma,
census takers claim, often do not self-identify as Roma because they fear discrimination
(Surdu 2016).9That is why their total number is said to be uncertain, and estimates vary widely
between four and twelve million. However, this lack of certainty about Roma population size must
necessarily affect claims to representativity, as well as the reliability of figures for the prevalence of
rare disease mutations in this group.
The study by Martínez-Cruz and colleagues, for example, admits that social and political
factors preclude the collection of precise census on the Roma,but then adds that they are
acknowledged as the largest ethnic minority of Europe, with a population of up to 10 million
people spread across the continent and mostly concentrated in Central and South-Eastern
Europe(Martínez-Cruz et al. 2015, 1). The authors represent this group of humans within a
genetic framework, which, they suggest, extends to up to ten million people, distributed over thou-
sands of kilometers. All this, however, is based on estimates that are not produced by any academ-
ically recognized methodology, which is indeed a challenge in terms of representativity.
The central premise, the pre-assumption or starting point for most of the studies is that Roma
in Europe are an isolated population. Some authors call them a diaspora; others, a genetic
isolate.In the past decade, some authors in population genetics studies have admitted a certain
degree of admixturewith the majority society, but the overall notion of a rather more than less
genetically isolated population still holds implicitly and explicitly. For example, the press release
mentioned above quotes a claim that from a genome-wide perspective, Romani people share a
common and unique history that consists of two elements: the roots in northwestern India and the
admixture with non-Romani Europeans accumulating with different magnitudes during the out-
of-India migration across Europe(Cell Press, 2012).
This description speaks of a well-defined process that can be modeled and quantified. In the
December 2012 volume of Nature, the same study is described in the section Research highlights
under the title Romani have Indian ancestry:
9An overwhelming number of scholars, representatives of Roma NGOs and international organizations, policy makers and
politicians consider that a census based on self-assignment cannot produce a reliable count of Roma. Some argue that Roma
hidetheir trueidentity and choose to self-identify with other ethnic labels. This, however, undermines the concept of self-
identification as such and implicitly subscribes to an essentialized perspective of Roma ethnicity based on allegedly objective
identification criteria.
74 Veronika Lipphardt et al. Published online by Cambridge University Press
The 11 million members of Europes largest minority group, the Romani :::, are descended
from a single population that left India some 1,500 years ago and dispersed across Europe
through the Balkans. [The research team] analysed the genomes of 152 Romani individuals
from across Europe and compared them with those of populations worldwide. European
Romani probably originated from northern and northwestern India. Genetic analysis
suggests that, after leaving India, Romani ancestors interbred with local populations on
the way to the Balkans before beginning to spread throughout Europe around 900 years
ago. Since then, Romani have interbred with local populations in Europe.
While this text does not give any indication of the extent of admixture, and while a large extent
would contradict the assumption that they are descended from a single population,the study
itself finds considerable evidence for admixture, recent and long ago, but nevertheless depicts it as
rather limited. The conclusions state:
Our data suggest that European Romani share a common genetic origin, which can be broadly
ascribed tonorth/northwestern Indiaaround 1.5 kya. Aftera modest genetic contribution from
the populations encountered through their rapid diaspora from India toward the European
continent, our data indicate that the Romani dispersed from the Balkan area around
0.9 kya. We further observe evidence of secondary founding bottlenecks and small population
sizes, together with isolation and strong endogamy. (Mendizabal et al. 2012,2347)
In this description, the Roma are still a sharply bounded, discrete genetic group, isolated and
strongly endogamous, yet not pure and homogeneous. The extent of admixture, however, is
depicted as quite limited, temporally, geographically and dimensionally:
Our data further imply that in more recent times, temporally and geographically variable
admixture events with non-Romani Europeans have left a footprint in the Romani genomes.
Overall, our analyses suggest that despite the relatively short time span, the demographic
history of the Romani is rich and complex. Further studies with more dedicated geographical
sampling and resequencing data would help in defining the Indian parental population of the
Romani, as well as further details of their migration and subsequent history in Europe.
(Mendizabal et al. 2012, 2347)
According to this account, the Roma have Romani genomeswith a footprintof admixture in
recent times.What has priority for the authors, however, is to define the Indian parental population.
Interdisciplinary input
Geneticists writing about Roma history usually rely on prior literature that assumes a particular
grand narrative about their origin,10 and they choose hypotheses to test that agree with that histor-
ical narrative.11 If the knowledge geneticists obtain from DNA analysis were not in accordance
10Such grand biohistorical narrativescan be understood as stories constitutive of social formations such as ethnic groups
and nations and described in evolutionary biology language with concepts such as mutation, selection, drift, founder events
and admixture (Lipphardt and Niewöhner 2007). These are intertwined with personal family stories of heritage and kinship.
11In genomics, so-called hypothesis-free methods are highly valued for achieving novel and unexpected insights. Analyzing
the genomes of patients affected by the same disease symptoms for commonalities, one hopes for a significant finding or
correlation. STS-scholars would argue that the sampling of a patient group (i.e. before the experiment is run) cannot be
hypothesis-free as the patients are hypothesized to represent a group affected by the same condition. For a genetic history
study, the hypothesis is to be found in the sampling as well, but also in the assumptions about the ancestralpopulation; the
equivalent to the experimentis the populations history. The recounted narrative of that population history is also a hypoth-
esis about how the observed genetic structure has emerged over time.
Science in Context 75 Published online by Cambridge University Press
with widespread societal and cultural narratives, then genetic studies on Roma might find it more
difficult to find public resonance.
Accordingly, these articles sometimes build on unsubstantiated evidence (e.g. medieval chron-
icles or folk myths, as in Kalaydijeva et al. 2005, 1086), or often on academic knowledge from the
humanities. Linguistic and anthropological studies are cited frequently and cursorily, as in the
public release quoted above, and mostly as evidence for the Indian origin of Roma. Rarely are
these references based on cutting edge research, but rather to articles and books published some
decades ago.12 In most cases, these accounts are used as a starting point or as a historical source for
the Indian origin of Roma and for their migration routes in Europe.13
To build upon their central hypotheses of isolation, these geneticists require additional infor-
mation on the lifestyle of Roma, which is generally drawn from cultural and ethnographic studies.
These are often referenced only cursorily and without specific citations, as providing knowledge of
their cultural characteristics.14 Thus, for example, Melegh et al. (2017) notes that Studies investi-
gating Roma culture revealed significant similarities between Roma and Indian culture including
the caste system and endogamic habits that means exclusive marriage within Roma sub-ethnic
groups (clans)(1). Salihovic et al. (2011) claim that Traditional social organization based on
strict and complex rules of endogamy and particular population history of the Roma have simi-
larly shaped Romani population structure as well as epidemiology and molecular architecture of
single-gene disorders(263). Finally, Plášilová et al. (1999) argue that The majority of Roma still
preserve their language, traditions, and lifestyle, and their communities remain almost totally
genetically isolated not only from the surrounding population but also from one another.
Endogamy is a strict rule, consanguineous marriages are frequent (15-45%), and the inbreeding
coefficient ranges among the highest worldwide(293).
All three of these examples highlight a cultural tradition of endogamy. In this interpretation,
any separation of Roma from the rest of society is self-inflicted, voluntary, and precisely what
Roma culture dictates. The genetic isolation is hence depicted as a consequence of self-determined
social separation, implying that, typically, Roma have offspring with Roma because they prefer to
choose their marriage partners among themselves. Other factors that have also contributed to the
societal isolation of Roma, such as discrimination, ghettoization, stigmatization, exclusion or
persecution, are rarely taken into account in this narrative.
Some geneticists studying Roma could now say, well, there might be different reasons for isola-
tion, but the reasons do not matter. Isolation is just isolation, and the result will always be an
isolated population. However, factors like discrimination or ghettoization would not only lead
to societal isolation followed by genetic isolation they would contribute to genetic isolation
differently. If voluntary endogamy is the causal factor for isolation, then the criteria of the commu-
nity determine who is considered an acceptable marriage partner and who is not. If discrimination
is the causal factor of isolation, the majority society determines the criteria for exclusion. These
two causal factors are not the same. For example, in many Jewish families and communities, being
Jewish requires one to be born to a Jewish mother, but this criterion is not shared by all majority
societies of the Jewish diaspora. Also, some majority societies have excluded and ghettoized Roma
12Some genetics papers include references to articles published by the Gypsy Lore Society, mostly before 1945. Morar et al.
(2004), Kalaydjieva et al. (2005), Gresham et al. (2001) and Tournev (2016) cite a publication from 1915-1916; Moorjani et al.
(2013) cites a publication from 1927; de Pablo et al.(1992) and Ramal et al. (2001) cite a publication from 1923; Regueiro et al.
(2011) cites a publication from 1941.Historically, the publications of the Gypsy Lore Society were a major source of scientific
racismuntil the late 1970s (Acton 2015).
13Angus Frasers book The Gypsies (1992) is the most often cited publication from the humanities; in most cases as
supporting the claims about endogamy as a cultural tradition among Roma. However, though Fraser also suggests that
mixingwas very frequent, those of Frasers statements that contradict the conceptualization of Roma as a genetic isolate
are not cited in the genetic studies.
14A noteworthy exception are the co-author contributions by ethnographers Marushiakova and Popov to the genetic
studies of Gresham et al. (2001) and Martínez-Cruz et al. (2015).
76 Veronika Lipphardt et al. Published online by Cambridge University Press
together with other groups of undesiredpeople but these groups would not necessarily have
been among the acceptable marriage partners for Roma families and communities. In some coun-
tries or regions, Roma were not the only ones affected by exclusion, and excluded groups were
relocated to separate settlements ghettos together. Also, a suppressed minority can typically
not maintain its own traditionswith regard to marriage and reproduction. Being enslaved, for
example, strongly limits ones reproductive freedom.15 Such complexities, however, which vary
considerably from country to country and from region to region, are not considered in the genetic
What does representativity mean, and why does it matter for genetic studies of populations? For
each of the subfields forensic, medical and population history genetics representing a group
comes with different challenges, particularly with regard to the application contexts. For example,
a medical geneticist needs to know how prevalent a mutation is in a population. A forensic geneti-
cist, who wants to build up a reference database for checking allele frequencies in order to estimate
how frequent a profile of a suspect is in a given place, needs to know whether she has tapped into
substructure, or whether there might be real-world populations unrepresented in the database.
A population history geneticist wants to collect DNA samples from individuals who most likely
represent a supposed historical group, that is, whose ancestors have only married within their own
group since historical times. Yet ultimately, in any of these cases, the geneticists who want to make
claims about all European Romamust consider questions of representativity. Otherwise, they
risk making claims that only hold for a small subgroup, or for that matter, not at all.
How would one plan to represent all European Roma,or ten million Roma, in a DNA data-
base? According to many social scientists, the first thing to do would perhaps be defining criteria
to decide who qualifies for the sample and who does not, while aiming at an appropriate sample
size. This would cause considerable discussions, as the task is complex and raises fundamental
To provide an example from biomedical research, all Germanswould become defined as all
German citizens,hence, only people with a German passport would qualify. In fact, biomedical
large scale studies such as the National Cohortdo consider representativity issues, as they recruit
through the registration offices in order to ensure that the results of the investigation will be
transferable to the overall population [of Germany](NaKo Gesundheitsstudie website). This
may still prompt discussions about representativity, however, there is a clear framework with
statistical data available for contextualization and comparison.
There is, however, no Roma nation state citizenship to turn to for that criterion. Language
would not be a reliable identifier either. Romani is a language spoken by some, but not by all
people considered (or self-assigning as) Roma. Other criteria are even more questionable. A
homogenous Romani cultureis impossible to nail down; Romani surnames do not work either.
Being discriminated against as a Roma or Gypsyby others is also no solid criterion. In addition,
these criteria do not overlap.
Cutting edge historical and sociological evidence demonstrates that Roma have no common
language, territory, religion, cultural practices or social status. Some scholars call them a super-
diversegroup (Tremlett 2014). Scholars from the social sciences and humanities today largely
agree on the fluidity, complexity and situatedness of Roma identity (e.g. Bogdal 2011; Jonuz
2009; Kovats 2013; Law and Kovats 2018; Plájás, Mcharek and van Baar 2019; Stewart 2013;
Surdu 2016; Surdu and Kovats 2015; Veermersch 2005). The self-assignment as Romais not
a good proxy for external assignment, and vice versa. Gypsycannot be viewed as synonymous
15In the territories of present-day Romania, the country with the largest Roma population, Roma were enslaved from the
thirteenth until the mid-nineteenth century.
Science in Context 77 Published online by Cambridge University Press
with Roma.Social historians consider the term Gypsya construction imposed with differing
rationales by national governments and administrations, through a long history of labeling, stig-
matizing and repressive control, up until the genocide under the National Socialist (NS) regime
and beyond (Lucassen 1991,1997; Lucassen, Willems and Cottaar 1998; Mayall 2004; Willems
1997). In a number of case studies, scholars have shown that marrying partners from outside
of the group is relatively common (e.g. Okely 1983; Fraser 1992; Achim 1998; Stewart 1997).
Framing Roma as one generic group is therefore seen as a form of racialization, or essentialization
(e.g. Law and Kovats 2018; Surdu 2016;Yıldız and De Genova 2017).
On the one hand, in many countries or regions, Roma have experienced long and repeated
phases of integration leading to what the geneticists would call mixing.On the other hand,
in different places, Roma were (and are) segregated, ghettoized and forced into societally and
geographically marginal places by decision makers and authorities (About 2012; Donert 2008;
Filhol 2013; Berescu 2019;K´oczé 2018; Picker 2017; van Baar 2015,2018; Vincze 2019).
The vast existing scholarship on past and present integration and exclusion of Roma in
different countries suggests that it is very difficult to sample or represent the Roma as a group.
In census taking and in the social sciences, self-assignment is viewed as the most advisable method
for the purpose of data collection and research about identity building. Hence, many social
scientists would only admit people to the sample who self-identify as Roma. The same holds true
for much of biomedical research today, since the US has introduced census categories (based on
self-identification of race, including multiple racial belongings) for test subject recruitment
(Epstein 2007).
However, self-identifying as Roma rarely comes with benefits in societal contexts where Roma
are discriminated against (Jonuz 2009). This is also the reason why census takers distrust the data
they have collected on Roma. Roma are believed to hidetheir trueidentity that is, the iden-
tity census takers would have ascribed to them. Yet, individuals may identify with various popu-
lation labels due to being culturally well integrated into majorities or surrounding populations;
self-assignment may situationally emphasize one or the other category of belonging. For geneti-
cists, this makes the sampling criteria of self-assignment problematic.16
External identification, that is, the identification of Roma by others, such as doctors, nurses,
social workers, teachers, police officers, community leaders, neighbors etc., would be seen as prob-
lematic by most social scientists on both methodological and ethical grounds. In their influential
empirical research, which drew upon a large set of data, Ladányi and Szelényi (2001) demon-
strated that self-identification as Roma and external identification do not overlap, or are not
equivalent to each other. Instead, understandings of Roma ethnicity vary greatly across cultural
contexts. There is also considerable variation depending on the classificatory work invested by
experts and fieldworkers in survey practices. For example, two sets of fieldwork are likely to
produce incongruent classifications of Roma (Ladányi and Szelényi 2001).
Representativity also has a strong technical dimension (Fujimura and Rajagopalan 2011). If one
is to use some of the standard software on two populations in order to examine their genetic rela-
tions, one needs to make sure the two populations have been sampled in a similar way, that their
sizes are of the same order of magnitude, and that the two populations were sampled under the
same conceptual framework (in our case, that of a genetic isolate). None of these conditions seems
to be fulfilled in genetic studies of Roma. For studies from Hungary, for example, reference data of
Hungarians are drawn from a national database, not from some isolated rural settlements.17
16In the past, geneticists have found various ways to overcome these problems, such as offering incentives. If there were
effective incentives to self-identify as Roma, the geneticists would need to consider what this implies in terms of building a
sample, as these incentives would perhaps attract people they did not expect to show up.
17We thank Peter Pfaffelhuber, Department of Mathematical Stochastics, Freiburg University, for his insightful comment
on the non-comparability of the samples.
78 Veronika Lipphardt et al. Published online by Cambridge University Press
Beyond these methodological issues, using external appearance as a criterion for recognizing
Roma a criterion used sometimes by geneticists would be considered much more problematic
and even racist by social scientists.
How do the geneticists handle this complicated issue? After all, their investigations and the
validity of their results completely depend on the samples they choose.
Sampling procedures
The population genetic studies on Roma from the past three decades are strikingly tight-lipped
about their sampling criteria and practices; sampling schemes are not made explicit. Issues of
representativity are rarely mentioned, and if so, not in an informative way. The donors were real
representatives of the entire population, as they were collected in a nationwide project,one study
of allele frequencies says (Magyari et al. 2014, 149). Mendizabal et al (2012) state: Alternatively,
mixed couples may leave the Romani communities and integrate into the non-Romani societies,
and thus would not be sampled from Romani groups in these countries.This suggests that
mixedand unmixedcouples segregate neatly. In doing so, it marginalizes cases of unmixed
couples leaving the community and mixedcouples staying within the community.
The silence on sampling is a relatively recent phenomenon. In their seroanthropological publi-
cations from the 1920s to the 1980s, geneticists were much more explicit regarding their sampling
procedures. Many of their efforts were aimed at avoiding mixedindividuals because they were
interested in pure Gypsies,who were, as they admit, hard to find and recruit. The idealized test
subject was the nomad, even though nomadism was a marginal phenomenon. Yet nomads were
seen as the most isolated from the society and therefore optimal for genetic studies, however rarely
willing to cooperate. Towns of all sizes, where people tend to mix,were avoided. Potential indi-
viduals were excluded if, upon being interviewed for recruitment, they said they were born to a
mixed couple, or if the recruitersexpectation regarding Roma life style, culture or outlook were
otherwise not met. Two studies (Clarke 1973; Rex-Kiss et al. 1972) explicitly state that one crucial
criterion of selection was the visual inspection of the external somatic featuresof the recruited
subjects (Rex-Kiss et al. 1972, 358). Rex-Kiss et al.s sampling strategy led them to prisons; other
researchers turned to other institutions that, for one purpose or another, classified and treated
Roma separately from other citizens.
We firmly assume that sampling would be done differently today. How exactly it would be done
though, remains unclear. If sampling information is given, it is vague and abstract. Many studies
rely on data shared by other teams. When it comes to describing the sampling scheme, the authors
point to the team that has collected the data.18 Following up on the latters publications, one can
sometimes not find any information on sampling there either. Rather, the information given there
is sometimes even more vague. In some cases, following those references back through the litera-
ture shows that the data has in fact never been published.
Yet sampling practices are not completely opaque. Approaching individuals for recruitment in
population genetic studies, the DNA collectors still want to make sure they do not include people
with too little or no Roma ancestry. From some studies, single hints can be gathered as to how this
might have been ascertained, and we have checked these observations with two expert interviews.
It seems that, in some cases, questionnaires may ask for an individuals self-assignment, for the
ethnicity or self-assignment of their four grandparents, for lifestyle parameters, for their mother
tongue, for cultural traditions, certificates or registries. It also seems not unusual for scientists to
rely on external assignment by a third person or institution, such as a doctor, a community senior,
a state official. Physical appearance is yet another selection criterion that is still used today, even if,
perhaps, not systematically and not explicitly.
18The dataset from the study of Gresham et al. (2001) has been shared with other research teams at least 20 times. In some
cases, we observed unexplained attrition of data.
Science in Context 79 Published online by Cambridge University Press
Self-assignment is mentioned in some studies as a sampling criterion. For example, in one
study, samples are described to derive from 27 self-declared Romani(Gomez-Carballa et al.
2013, 2). But on the other hand, it is seen as rather unreliable information. Mendizabal et al
(2012) state in the supplement: All individuals included in this study were self-identified as
Romani [sic]. Importantly, the self-identification as Romani is a delicate matter in some
European countries due to the social stigma attached to Romani identity; hence additional infor-
mation obtained in sampling can be scant(Mendizabal 2012, Supplement, 1). How the teams
overcome this problem, what other criteria they use instead, remains unclear.
Sampling issues: Family relationships, small samples, privacy and social pressure
Population genetic studies need to account for the risk of tapping into population substructure,
particularly when studying isolated populations (Ehler and Vanek 2017). If samples are taken
from the same family or neighborhood, the risk of sampling bias is considerable. This is relevant
for considerations of representativity in our case, especially in the context of small samples that
were collected in small, ghettoized Roma settlements. In some cases, what is taken to be a repre-
sentative sample of Roma in a specific country, or even of European Roma,may in the worst
case be based on a limited number of related community members, in a limited number of loca-
tions that have become exclusive sampling sites for genetic studies of Roma over the last few
decades. Several locations in some East European countries have been long term sampling sites
for genetic studies (e.g. Baranya county in Hungary; Kosice in Slovakia). Even more problematic,
some of these samples have been used and shared for decades.
Some of the studies give information on how and where sampling took place, such as the names
of villages or city quarters. Martínez-Cruz et al. (2015), for example, recruited 110 subjects from
seven neighboring villages in Greece, which seems problematic if family relations need to be
avoided. (Whether publishing this information, including the villagesnames, complies with
privacy and anonymity obligations is yet another open question.)
In other cases, samples were collected in clinics, doctorsoffices or medical care institutions, or
in health care schemes addressing Roma or people with a specific health problem. While health-
care systems seem to ease access to individuals who have previously been labeled Romaby that
very system, it is in many cases unclear whether those people would self-identify as Roma, or
under what circumstances they would (not). Several forensic genetic papers using DNA data from
Roma list co-authors affiliated with police, investigative or military forces (for details see
Lipphardt, Rappold and Surdu 2022, under review). Three forensic studies explicitly mention that
their samples were collected by medical doctors (Nagy et al. 2007, 25; Saiz et al. 2014, re-using the
data of Novokmet and Pavčec 2007). The ethnic categorization of samples by the collectors indi-
cates that systematic ethnic labelling for Roma is in place in medical institutions in some
When such data collected in healthcare settings is used to address population genetics ques-
tions, this can have problematic consequences for representativity. After all, specific healthcare
programs attract communities and families nearby, as well as, plausibly, people with similar
genetic dispositions to particular non-genetic conditions. In the case of healthcare schemes
addressing genetic diseases, it is plausible to assume that relatives will show up at the same medical
institution to get healthcare. Third degree cousins, for example, aware or not aware of their
kinship, are genetically more similar to each other than unrelated individuals. Hence the necessity
to account for the risk of sampling bias, especially since some geneticists describe Roma commu-
nities as inbreeding,”“consanguineous,”“endogamous,or as large, complex family networks.
Test subjects are obviously often asked for family information, so that known relationships could
be detected already in the doctor-patient conversation. But doing this without infringing privacy is
a challenge if family members do not come to the care facility together. To put it differently, with
80 Veronika Lipphardt et al. Published online by Cambridge University Press
inbreedingand isolation,the exact background that makes such families interesting for
researchers is also the thing that undermines the validity of sampling, not just from a biological
point of view, but in an ethical sense as well.
Technical controls for kinship are mentioned in some studies. The 2013 study from Spain
focused on 27 self-declared Romani within the framework of ESIGEM,stating that all these
individuals had suffered from meningococcal disease(Gomez-Carballa et al. 2013, 2). The
authors checked for family relationships using identity-by-state analysis and found only one pair
of individuals (among the twenty-seven) matching the criterion of closely related.Another pair
showed statistically significant evidence for second degree relatedness. That is four out of twenty-
seven and more sensitive methods used by genetic epidemiologists today would probably find
even more family relationships.
This could particularly be the case if very small sample sizes were used as representative for a
national minority population. For example, Mendizabal et al. (2012) use a sample of eight
Lithuanian individuals for their study of European Romani. The complete sampling information
reads: The Lithuanian Romani were sampled in the Kirtimaitabor (Roma settlement) in Vilnius.
They belong to Verchnij tabor group and are mostly Polish speakers(Mendizabal et al. 2012,
supplement, 1). Kirtimai is a neighborhood only a few kilometers south of Vilniusold city center.
It is the only compact Roma settlement in Lithuania, with a population of 354 to 500 people,
depending on the source of the estimate (Poviliunas 2011). Eight individuals from one single city
neighborhood, which is a small compact Roma settlement, are probably easy to re-identify. It
seems unlikely that there are no family relationships between them. Mendizabal et al (2012) state
that they used Tukeys outliers detectionto remove individuals either showing a higher amount
of inbreeding or larger than average identity-by-state distances in their sampling population
(Mendizabal et al. 2012, supplement, 1). This, however, is probably not sufficient to exclude
kinship in this specific community.
A small sample size from a small, societally excluded community carries a high risk for so-
called cryptic relatedness.19 This would make the inference of the history of a larger Roma popu-
lation from that sample even more questionable, because the risk of capturing population
substructure is larger in such a small local sample. The Kirtimai sample of eight is perhaps more
representative for a locally specific population substructure than for Lithuanian Roma in general.
Lithuania, after all, has a population of ca. 2500-3000 self-declared Roma, and they do not all live
in Kirtimai.
Notably, it is unclear under what conditions these eight samples were collected: Mendizabal
et al. (2012) do not give any reference. Gomez-Carballa et al. (2013) also use a Lithuanian sample
and refer to Gresham et al. (2001). Gresham et al (2001) use twenty Lithuanian samples without
giving a reference, implying that this is primary data. As Vaidutis Kucinskas from the Department
of Human and Medical Genetics at the Faculty of Medicine of Vilnius University is co-author on
all three studies, it seems plausible that he has contributed these samples, but without any infor-
mation on the sampling, it is hard to tell what exactly these twenty or eight samples represent.
Without any information on data attrition, it is also hard to tell why the sample has been reduced
to eight. This is only one out of many examples. In order to learn more about such instances, one
would need to contact co-authors in dozens of cases in which the relevant information is lacking.
19Considerable definitory lack of clarity exists for the three terms endogamy,”“inbreedingand incest,both between the
fields of genetics and social sciences and within them. Endogamyand incestcan be viewed as the two end points of a
spectrum of in-group parenthood. In between the two, there is a vast range of parenthood between more or less closely related
partners. In genetics, inbreedingis used interchangeably with the other two terms, and for covering phenomena all over that
spectrum. Social scientists understand endogamy mainly as in-group marriage and parenthood between partners from unre-
lated families. Inbreedingwould rather be understood as overlapping with incest.Of course, relatednessand incestare
culturally contingent concepts and differ between countries and societies.
Science in Context 81 Published online by Cambridge University Press
Excluding mixedindividuals: Removing data sets from the samples
While much of the sampling practices in the field seems to aim at focusing in on those individuals
who represent the descendants of the proto-Romani,(i.e. the group that departed India some
1,000 years ago), for some geneticists there still seems to be too much noise in the samples the
recruiters bring to the lab. In particular, we found instances in which researchers attempted to
avoid mixedindividuals in their samples. Individual data sets might be excluded from a sample
in the lab after the DNA analysis yielded a result that does not accord with what genetically was
expected from a Roma.
For example, Melegh et al. (2017) use genome-wide SNP data from 179 Roma samples.
Twenty-seven of the samples had been documented in another study (Moorjani et al. 2013), which
states that most individuals were from Hungary20 (Moorjani et al. 2013, 8). Those twenty-seven
participants had extensive interviews before giving written informed consent. About their self-
assignment, the authors state: Roma individuals self-reported as being descendants of the same
tribe for at least three generations(Moorjani et al. 2013, 8). These twenty-seven samples were
then merged with the dataset of 152 samples from Mendizabal et al. (2012) discussed above in
which sampling criteria were not described in any detail and the overall dataset was treated as
one Roma dataset without any further subdivision.
The sampling rationale clearly favored isolated groups –“tribes”–and Indian origin. But in
spite of their sampling strategy to include only descendants of the same tribe for at least three
generations,the authors state: Our results showed that Roma have on average 81.08% /- 0.53%
West Eurasian related ancestry(Melegh et al. 2017, 7). And yet, to arrive at this conclusion, the
authors had to do much more than asking for tribal affiliations. As they explain: Based on PCA
and clustering methods, we removed Roma individuals from the merged Roma dataset, which
showed significant admixture with non-Roma Europeans. The merged dataset contained 158
Roma samples featuring 599,472 autosomal SNPs(Melegh et al. 2017, 2). This means that, even
after excluding 11% of all participants on the basis of DNA results as admixedindividuals
(namely those who had too much European ancestry in the eyes of the authors), West
Eurasianancestry still dominated heavily.
Put differently, in order to demonstrate the Indian ancestry of Roma, the authors of some of
these studies removed samples from those individuals that they deemed not Indian enough.
They were then left with, unsurprisingly, some Indian ancestry, but only as a minority subset
within a bigger sample with a huge amount of admixed ancestry, mostly from Europe. And
yet the minority subset is seen as the authentic, autochthonous part representing Roma while
the larger sample with European ancestry is seen as the admixed interference. In other words,
on top of the already restrictive sampling strategy, another layer of filtering is added to ensure
that only a subset of individuals with some Indian ancestry would be retained for analysis.
Excluding mixedindividuals is a concern that applies to many studies. In a series of publi-
cations, Hungarian authors documented concerns about the representativity of a large shared
sample: Kosa et al. (2015) claim that their sample is not representative because, firstly, assimi-
latedRoma had not been included, and secondly, some of the Hungarians sampled for the
comparison group might have been Roma themselves (303). They conclude that this may have
slightly diluted the true difference between the populations(ibid). No matter how confusing
social realities proved to be, no matter how well integrated or mixedpeople in Hungary were,
the authors remained concerned with the truedifference, the most clear-cut difference, so to
speak, which in their case meant the genetic difference.
20The text reads: from Hungary (3 linguistically and culturally separated sub-groups: 7 samples from Olah (Vlah), 4
samples from Beas (Boyash) and 4 samples from Romungro), 4 samples from Romania, 4 samples from Spain and 4 samples
from Slovakia.
82 Veronika Lipphardt et al. Published online by Cambridge University Press
Similarly, Nagy et al. (2017), using Kosas data, conclude that the presence of participants with
mixed Roma/non-Roma ancestry ::: may result in a slight underestimation of the differrences
between the populations(Nagy et al. 2017, 455). Piko et al. (2017) and Fiatal et al. (2016) both use
Kosas data and state that those Roma who have, to various degrees, assimilated with the
Hungarian general populationhave been excluded from the sample. Furthermore, both studies
state that because many people are reluctant to self-define their ethnicity as Roma, this constraint
would be very difficult to overcome(Piko et al. 2017, 124; Fiatal et al. 2016, 2265).
With the sharing of data or DNA samples between studies, the pattern of thinking is shared,
too. If the representative sampleof the general Hungarian population included some people who
were Romain the eyes of the authors, this had been revealed by the DNA analysis; no matter
how those individuals would self-identify, genetically they had to be considered Roma. The
Hungarians, then, were assumed to be sampled for their unmixedHungarian ancestry; and
if the sampling was successful, according to the authors, genetically speaking, there should be
no Romain that sample. As STS scholar Star (1983) has demonstrated, filtering data in the
laboratory sometimes is (but should not be) part of the scientific work of transforming ill struc-
turedproblems into well structuredproblems, by ignoring complexities and making choices in
all stages of the research process, often under conditions of scarce resources and pressure to
deliver significant results.
Terminology and wording
Representation also happens through language. In many studies, social, cultural and political sepa-
ration comes to be reinterpreted in genetic terminology. Martínez-Cruz et al. (2015) hold that
Roma are an excellent model to evaluate the consequences of recent, multiple, and widespread
dispersals and founder events,which sounds like a self-confident statement of solid knowledge
(1). Similarly, a medical genetic study has stated that the Gypsies are a young founder population
comprising multiple genetically differentiated sub-isolates with strong founder effect and limited
genetic diversity(Kaneva et al. 2008, 191). Their population, according to these researchers, has
a substructure that can greatly facilitate the mapping and identification of disease genes(Kaneva
et al. 2003, 105). Endogamy and inbreeding,another publication states, lead to the accumula-
tion of hereditary disorders(Tournev 2016, 95). And in another study: The proportion of
slightly deleterious genetic variants accumulates during bottleneck events as the efficiency of puri-
fying selection is diminished in small populations(Mendizabal et al. 2013, 198). The mapping
and identification of disease genes is the puzzle the scientists aim to tackle by employing their
supposedly well-established model of an isolated population.
These quotes may sound like purely technical terminology except for the population label
Gypsy”–but in fact, such statements are as much about society as they are about biology.
Each term stands for a specific interpretation of societal situations Roma have experienced.
Furthermore, there seems to be a misfit between the positive appraisal of usefulness on the
one hand (greatly facilitate the mapping and identification of disease genes;Our special
research toolwill be the unique genetic heritage of Gypsies,Jordanova n.d.) and the negative
connotations of inbreeding, deleterious genetic variants and selection on the other. Wordings such
as these seem to speak for an instrumentalizing approach rather than one driven by empathy with
people in miserable health conditions. While it is arguably not a priority for genetic publications to
demonstrate empathy, there are role models in the field who manage to convey empathy in their
scientific publications.
Some genetic studies speak of Gypsy disorders,”“Gypsy mutations,and even of Gypsy chro-
mosomes(e.g. Morar et al. 2004). To call the population under investigation Gypsyor Roma
is obviously seen as a scientifically irrelevant decision by many scientists. In conversations, we are
told that this is just a question of sensitivity; many geneticists seem to strive for using the label least
Science in Context 83 Published online by Cambridge University Press
offensive to their test subjects.21 However, this cautionary approach might apply to consent forms
and personal contact, but whether or not it also applies to scientific publications is not so clear.
Would geneticists expect the individuals in question to read these publications? Would this be
different for a societally well-established minority, as compared to a poor and discriminated
one with high levels of illiteracy? In any case, many authors of these studies find it unproblematic
to call the population Gypsy,though many Roma would find this offensive. In conversations, we
are sometimes told that it seems justified to ignore political correctnessbecause even some
Roma call themselves Gypsy.
Viewed from the perspective of representativity, the following groups are not congruent and of
very different size: Individuals who are willing to identify as Gypsiesin private and public; indi-
viduals who are willing to identify as Romain private and public; individuals who are called
Gypsiesby others; individuals who are called Romaby others. If genetic studies do not detail
their sampling strategies in this regard, it is unclear what they represent. What is pretty clear,
however, is the fact that these authors, when using the term Gypsy, risk offending many of those
they wish to represent.
The main unit: All European Roma; or rather those with ancestors from India?
Before we continue with reporting on the genetic studiessampling practices and representativity,
we include here an intermediating thought to make it easier to follow the rest of this paper. For
social scientists who are not familiar with the relevant STS literature, the observation that these
genetic studies seem to ignore obviously problematic aspects of representativity can be puzzling,
even disturbing. In agreement with relevant STS literature (e.g. Fujimura and Rajagopalan 2011;
Fujimura et al. 2014; Nash 2013; Gannett 2014; Bliss 2015,2018), we offer a differentiated expla-
nation, one on the level of conceptual differences. Geneticists carrying out these studies seem to
have a different understanding of population,namely, primarily a genetic one. Moreover, the
genetic boundaries are the ones to define the boundaries of a group that is, an individual is to be
considered a Roma if the individual has biological ancestors from medieval Romani groups, and/
or if genetic findings make the case.
To be sure, there might also be groups that are genetically quite closely related, but share no
common idea of belonging; they may even have been enemies for centuries. But if genetic bound-
aries seem to match to some extent with some widely known social boundaries, population geneti-
cists would view this as a successfully identified population structure. Social division perceived in
society and biological difference studied in science seem to explain one another. That way, they
reinforce the conceptual framework in which they both have been produced.
What the geneticists involved in these studies aim to explain are genetic differences between
populations of today or, more precisely, genetic differences between groups they consider as
populations. Their epistemic object is not the social reality of Roma, but a genetically bounded
population that, for them, seems to overlap strongly with the social group of Roma. The Roma
seem to them one of the examples where genetic and social cohesion go hand in hand. The focus is
on the genetic group, and any of the social markers used for recruitment are seen as powerful
proxies for that group. That the social groupness of Romacould pose problems for their
demarcation of the genetic population might not be a concern.
A significant boundary in genetic population structure can be made plausible by a historical
explanation, a story through which readers can understand how the group came to be genetically
21A leading forensic journal stated in 2010: It is therefore of utmost importance to carefully describe the sampled popula-
tion correctly and in detail with respect to geographic origin and demographic background applying termini from molecular
anthropology and population genetics. This includes the use of a correct ethonym [sic] (e.g. Romainstead of Gypsy,
Europeansinstead of Caucasians, etc.), the definition of the linguistic, and (if applicable) cultural groups (e.g. casts)
and subgroups(Parson and Roewer 2010, 506).
84 Veronika Lipphardt et al. Published online by Cambridge University Press
different. The public will find a story plausible that fits their understanding of groups and group-
ness. It is more difficult to publish counter-intuitive population histories, in particular if these
stories do not resonate with what human evolutionary genetics textbooks say (e.g. Jobling
2014, 448).
In addition, the Roma understood as a genetic population are perceived to have common
ancestry components supposedly making them distinguishable from Europeans.22 Thus, the
focus of most these genetic studies is on the Indian origin. The authors aim at demonstrating
genetic continuity between the group that migrated from India to Europe in medieval times
and todays Roma. Some authors call the group that departed from India proto-Romani.
Romani who have been living in Europe ever since that original departure are all viewed as
descendants of these proto-Romani.Social integration, or any other social situation leading
to genetic mixing,makes the task of the geneticists more difficult. However, if one assumes that
mixinghas been negligible and that it has not eroded the group coherence as such or that at
least the core part of that group has remained intact and unmixed”–then mixingcan presum-
ably be controlled for in a model. As one author states: The basic common model considers a
proto-Romani population that splits from a given population of the Indian subcontinent (Pakistan
and India) and can admix with a hypothetical (unsampled) Central Asian, or Near or Middle
Eastern population, as well as with non-Romani Europeans after arriving in Europe
(Mendizabal 2012, 2345).
When the authors of these population genetic studies look at DNA data collected from living
Roma individuals over the past thirty years, what they understand themselves to be looking at is a
proxy towards a hypothetical, ancestral proto-Romanipopulation (see the quote above).
Studying Roma migration routes over Europe, they are interested in dispersal and subfounder
effects in single national contexts. In each case, they look for individuals who would most closely
resemble the medieval Indian-Romani arrivals in that country, coming from Eastern Europe or
the Near East. Of course, the most revealing markers for this would again be Indian signatures
(Gomez-Carballa et al. 2013), marking those who are descendants of the first Romani arrivals in
the respective country.
However, finding Indian signaturesdoes not mean that large or significant parts of the
genome are resembling the genomes of people from India, rather than those of others.
Neither do readers learn about the results from the most powerful markers. In fact, in studies
considering mixture,an overwhelmingly large proportion of the genome of an average person
sampled as Roma does not resemble Indian signatures,but Europeanor other signatures.
Yet, in the research questions, research designs and interpretation of the results, in reports on their
findings in the conclusions or in press releases, the authors emphasize and focus on Indian signa-
turesabove all others (Mendizabal et al.2012; Melegh et al. 2017), whereas signaturesfrom
other regions are mentioned only briefly and marginally. For further research, what seems most
promising to them is to explore the Indian ancestry further.
Mendizabal et al. (2012), for example, speak of admixture along the way from India to Europe
and within Europe, but this seems secondary and negligible for the authors. Because their priority
is to find a more specified regional origin of the Roma population within India, the authors match
their Roma DNA data with DNA data from different areas in India. The applied computer
program suggests that the parental populationcame from Kashmir or north/north-west
India. As the authors admit, they are struggling with a lack of samples precisely from that region.
Hence, future dedicated sampling across linguistic and social strata in this Indian subregion is
22Or Caucasians(a term mostly used in biomedical studies), Whites(e.g. Castella et al. 2011; Varszegi et al. 2014),
indigenous(e.g. Pamjav et al. 2011), or non-Roma.”“Non-Romaand Caucasianare sometimes used interchangeably
(e.g. Mašindová et al. 2015 and Molnar et al. 2012). This interchangeable use of categories suggests that in some cases non-
Romais used as a way of coding racial division.
Science in Context 85 Published online by Cambridge University Press
needed to identify the actual parental population of the European Romani from that Indian subre-
gion(Mendizabal et al. 2012, 2347).
To be sure, we do not maintain that there was no migration from India to Europe in medieval
times. We also do not simply reject the claim that medieval migrants from India are among the
ancestors of some of the Roma living in Europe today. However, this is only one source of their
ancestry, and not even the dominant one. Like other populations, Roma have multiple sources of
ancestry. Their genetic ancestry is manifold and complex and does not allow for a single historical
narrative. Furthermore, in India and Europe, in between these regions and around the world,
many people might have comparable ancestry but are not considered Roma.
The example of the Bulgarian Romani
Mendizabal et al. (2012) aimed at determining the temporal sequence of arrival in various coun-
tries. Therefore, they attempted to identify the current Romani population that is genetically the
most similar to the putative founder population of all European Romani groups,that is, the
actual parental populationin India (Mendizabal et al. 2012, 2345-6). As a result of this attempt,
the authors conclude that Bulgarian Romani seem to be most similar.
In this study, the estimated 750,000 Bulgarian Roma (roughly 10% of the Bulgarian population)
are represented by 18 individuals. The sampling information in the supplement is more detailed
for the Bulgarians than for all other Roma populations. The Bulgarian Romani samples were
collected from the two major groups around the country: Wallachian and Yerli, and some of their
subgroups (Dassikane, Horohane, Kaldarashi, Kopanari and Reshetari)(Mendizabal et al. 2012,
supplement, 1). No reference is given for the DNA data from Bulgaria, but in the acknowledge-
ments, Ivailov Tournev is thanked for the recruitment of Romani samples from Bulgaria.
In 2016, Ivailov Tournev published an account of his two decades long sampling endeavors in
Bulgaria. The texts subtitle reads Neuromuscular disorders in Roma (Gypsies) collaborative
studies, epidemiology, community-based carrier testing program and social activities
(Tournev, 2016). Starting in 1994, Tournev and his team collected the most detailed information
on Bulgarian Roma, in cooperation with ethnographers:
The main sources for collecting the epidemiological information were the field work studies.
A neurological screening of hereditary neuromuscular disorders using the method door to
doorwas performed in 2500 towns and villages (having predominantly Roma population)
in the country. Those towns and villages where pedigrees with hereditary neuromuscular
disorders resided were visited from 2 to 10 times with the aim of collecting pedigree infor-
mation, blood samples for genetic studies and neurological examination of the patients. The
field work studies covered a period of 20 years (19942014). 97% of the Roma population
living in compact Gypsy quarters was encompassed. An ethnographical and linguistic exami-
nation was performed in every quarter using a semi-standard interview for identification of
various Roma groups and subgroups. In those towns and villages where Roma people live in
several quarters or more than one Roma group resides, the ethnographical and linguistic
examinations were performed in every quarter and in every separate group. The field studies
were performed with the support of the local Romafoundations and Roma health mediators
from different parts of the country. (Tournev 2016, 99)
If 97% of the Roma population living in compact quarterswere encompassed, as Tournev
acknowledges in this quote, one could perhaps call this a genetic census.Tournev gives a detailed
account of the terrible living conditions of most Bulgarian Roma, including their segregation from
the major society. More so than in other countries, Bulgarian Roma live in isolated settlements,
and Tournev is explicit about the majoritys role in creating genetic isolates by forced exclusion.
86 Veronika Lipphardt et al. Published online by Cambridge University Press
Hence, data on genetic isolation is rich in Bulgaria, to an extent that allows for a more differ-
entiated view on single small groups, some of which have been more isolated than others, for
different reasons. The results speak for a complex substructure, more complex and more varie-
gated perhaps than elsewhere. How the 18 individuals from Mendizabal et al.s study were
recruited, or how their data was selected from many thousands, is an open question.
Tournevs text is rich in information, particularly about neuromuscular genetic diseases among
Bulgarian Roma. A large number of studies were published from the collected data, in the fields of
both medical and population genetics. The most productive main and senior author of these
publications was Luba Kalaydijeva. Kalaydijeva involved two ethnologists in the research, and
one of their tasks was to work out a classification for the different Roma groups.
The instances of data sharing with other teams across Europe and the world are numerous. For
example, there is hardly any population genetic study on Roma that does not include data from
the Bulgarian large-scale collection published by David Gresham, a former PhD student of
Kalaydijeva, in co-authorship with Tournev, Kalaydijeva and a larger team (Gresham et al.
2001). Many studies have built European Romasamples by adding a small number of samples
from other countries to the already existing Bulgarian data.
Accordingly, DNA data from Bulgarian Romani provide the most detailed, variegated and rich
data collection, and it has come to be interpreted and used in many different ways. It is hard to
imagine that Kalaydijeva, who has time and again emphasized the great and complex genetic
diversity of Bulgarian Romani in a number of publications, would agree to represent
Bulgarian Roma with 18 individuals from a low number of subgroups. Also, if no rationale is given
for the selection of those 18 individuals from a supposedly huge number of data sets, it is hard to
tell what these individuals stand for.
After all, the samples from Bulgarian Romani of today, or of 1994, cannot stand for any other
national, transnational or regional group. Neither can they represent the ancestralBulgarian
Roma population, the one that supposedly arrived in medieval times in the region that is today
the nation state of Bulgaria. If Bulgarian Roma have been isolated in many small communities, in
varying constellations over the centuries, their current genetic diversity can be shaped by complex
drift processes and is not the result of neatly definable, linear historical processes. The underlying
history is inextricably complex and locally contingent.
Merging datasets across countries
A number of genetic studies seek to extend their scope across all of Europe, for which purpose they
merge, share, transfer and reduce data of different provenance, collected with different sampling
strategies. What does such a merging strategy imply? And what can such a merged sample
In each medieval principality, in each Early Modern Times empire, and in each modern nation
state, foreigners including those whom geneticists regard the ancestors of todays Roma were
treated, named and registered differently. Over the centuries, with political upheavals and wars,
state borders and registration procedures changed and shifted, including and excluding minorities
in different ways. Yet assuming genetic continuity, population geneticists tend to ignore such
complexities, extract samples from a number of countries and look for patterns on maps of
Europe. Their aim is to investigate Roma migration routes along with subfounder effects.
From the ca. 75 population genetic studies published after 1990, two might suffice to demon-
strate this attempt at representing European Roma with a merged data set. Mendizabal et al.
(2012) include a map of Europe with the nation states of today. It shows how many Roma live
in each country, how many individuals were sampled per country, and at what historical date
Roma were first mentioned in that country. The overall data set of 152 individuals, collected from
thirteen Roma groups in thirteen countries, includes small samples, such as seven individuals from
Science in Context 87 Published online by Cambridge University Press
Wales (but these were excluded from some of the analyses because they seemed too admixed), ten
from Spain, nine from Portugal, eight from Lithuania or seven from Estonia. The largest sample
contains the eighteen from Bulgaria, followed by fourteen from Romania. The sample sizes stand
in no correlation to the size of the respective Roma population, nor to their proportion of the
overall national population. Following up the numbers reveals that some individuals were
excluded from each national sample due to familial relationships.
No sample, neither in this nor in any other population genetic study on Roma, comes from
Germany, France, Italy, Belgium, the Netherlands, Poland, Austria or Switzerland. This is not
due to the small size of their Roma population - some of these countries have much larger
Roma populations than Lithuania, Portugal or Ukraine. No reason is given for this sampling deci-
sion in any of the studies.
In one study, titled Mutation history of the Roma/Gypsies,samples from Germany, France
and Italy are mentioned, yet not marked as such in the data analysis (Morar et al. 2004). In order
to account for this, we need to first look into general sampling decisions. In this study,the
authors state in the abstract, we have used five disease loci harboring private Gypsy mutations
to examine some missing historical parameters and current structure. We analyzed the frequency
distribution of the five mutations in 8321,363 unrelated controls, representing fourteen Gypsy
populations, and the diversification of chromosomal haplotypes in 501 members of affected
families(Morar et al. 2004, 596).
Representing a population by mutations presents further problems for representativity in a
population history study (private Gypsy mutationswill be discussed in more detail below).
If a third of all recruited individuals carry one out of five mutations understood by geneticists
as private Gypsy mutations,their data has likely either been collected in large scale screening
programs or in doctorsoffices and clinics.
This study comes from Kalaydijevas lab, and Bulgarian samples make up a large part of the
dataset. Self-reported identityin terms of historical and cultural-anthropological classifica-
tionswas used in order to sort the individuals into group categories (Morar et al. 2004, 598).
In total, a table states, 1175 individuals from fourteen Gypsy groupswere sampled and their
data was assembled in three large migrational/linguistic categories: 419 individuals labeled
Balkan; 366 labeled Vlax; and 390 labeled Western European(ibid). While the former
two categories are subdivided into groups with local or professional names (Musicians,
Kalajdjii), the latter, Western European,is subdivided into national groups: Hungarian
(283 individuals), Lithuanian (20), Spanish (87) in total, as stated above, 390 individuals.23
However, the reader also learns that individuals from Hungary, Slovenia, the Czech Republic,
Lithuania, Germany, France, Italy, Spain, and Portugal, for whom information on Gypsy
group identity was unavailable, partial, or contradictory, were classified together as western
This raises further questions: Were the individuals from Germany, France and Italy put in the
Hungarian, the Lithuanian or the Spanish sample? Based on what significant criteria? How many
were there? Were they approached as mutation carriers in healthcare facilities, and then asked to
identify as Gypsies? Or were they approached as Gypsies,and if so, under which sampling
scheme? What does it say about self-reported identityif information on Gypsy group identity
was unavailable, partial or contradictory? Why was this the case for all individuals from these
three countries? In none of these countries does census data collection include ethnicity. Did this
play a role? Or, one could also ask: Would a German patient self-identify as Gypsy? Would a
German ethics board be comfortable with approving of applications for projects involving
Gypsies? And would a German self-reported Roma approve of being sorted into a
Hungarian, Lithuanian or Spanish Gypsysample? And where are these samples and data-
sets today?
23Interestingly, if unusually, Hungary, Slovenia and Lithuania are included in the category Western European,
88 Veronika Lipphardt et al. Published online by Cambridge University Press
As we have noted above, such studies merge, share, transfer and reduce data of different prov-
enance and collected with different sampling strategies. What the recruited individuals probably
all have in common is the fact that they are not well integrated into their nation states societies.
The sampling practices in many of these studies seem to have favored societally deprived groups,
serving as a proxy to genetic isolates.If this rationale underlies sampling decisions, it is hardly
surprising that most research results confirm genetic isolation. If research teams simply use data
sampled by another team without questioning the sampling strategy, they will reproduce the first
teams results and biases.
One important sampling rationale seems to have been maximizing the likelihood of genetic
variants that have also been found in India. One can perhaps increase that probability by focusing
on people who have a certain genetic disease, who look Indian, speak Romani, and identify as
Roma. But the merged sample cannot represent European Roma; it represents isolated groups,
families or neighborhoods that are labeled Gypsyor Roma,and a certain proportion of the
recruited individuals may even identify as Roma. How many, and under what circumstances,
remains unknown.
Private Gypsy mutations
The Roma are described as an isolate in which various private mutationsfor all kinds of diseases,
especially neuromuscular diseases, have accumulated,more than in any other group. Brubaker
argues that rare variantswould not be definitive of any socially defined racial category
(2015, 82).
The term private mutationis viewed as a purely technical term by human geneticists. It refers
to any novel mutation that has been found in a narrow social group, for example, in a family,
between relatives or in an isolated rural settlement. Speaking of private Gypsy mutations,
however, as many of the medical genetic studies on Roma do, gives the term a different resonance.
Private,in this context, takes on a more metaphorical meaning and also invites an interpretation
of mutation carriers as belonging to that ethnic group, or at least as having ancestors from
that group.
And indeed, in some studies, the ethnic attribute Romais being assigned on the basis of
disease mutations even though the patients have self-declared a different ethnicity. For example,
the authors write about a patient with Hereditary Motor and Sensory Neuropathy (HMSN), a rare
genetic disease attributed to Roma, noting that the family was not aware of their Roma ancestor
(Brožková et al. 2016, 2). Neither do the authors consider that the mutation could also occur in
non-Roma individuals. Similarly, Colomer et al. (2000) examine three Spanish patients with
HMSN Lom disease and argue that the patients belong to a non-consanguineous family with
Gypsy background although they were unaware of the details of their ancestry(578). Some dele-
terious genetic mutations are referred to as Gypsy mutationseven though mutation screening
in 359 Eastern-European Gypsies failed to identify any carriers(Barca-Tierno et al. 2011, 1218).
Speaking of private Gypsy mutationsalso implies that the Roma are the population in which
that mutation first emerged, or that they are the source population of a mutation brought over
from India to Europe. From the 220 biomedical studies reviewed, only a handful mention that a
rare disease could have been introduced into Roma communities from outside.24
This general depiction of Roma is, of course, misleading. The vast majority of mutations labeled
private Gypsyor private Romahave not been shown to be more prevalent in India, or to be
confined to Roma communities.25 Seen from the perspective of human genetics and evolution,
mutations can also first occur in a surrounding majority population; a subsequent ghettoization
of undesiredpopulation groups disrespectfully excluded as foreigners, poor, diseased, disabled,
24These are Angelicheva et al. 1997; Desviat, Perez and Ugarte 1997, 67; Morar and Kalaydjieva 2008; Kalanin et al. 1994.
25A good dozen of such privatemutations are reported in the literature.
Science in Context 89 Published online by Cambridge University Press
deviant can lead to the amplification of mutations in a societally isolated community. In spite of
ethnic and social complexity, such a community may nevertheless be labeled Gypsyor Roma
by the majority in a society. Writing the history of Roma migration routes by means of mutations,
then, is a representational challenge.
A disagreement on representativity
As we have demonstrated, genetic studies that claim to have produced research results about the
Romaor the Gypsiescannot formally represent the overall Roma population. The sampling
schemes and practices do not satisfy the standards of representativity - not in the social sciences,
nor in some branches of the life sciences. The authors of these studies would have to state precisely
what the sampling decisions are aimed at and what the sample then represents: for example,
people living in most isolated places, or people who might have Indian ancestry, or people
who carry a mutation for one or more genetic diseases, or all of these, if applicable.
Alternatively, if the authors stick to representing all European Roma,they would have to adopt
a whole new sampling scheme, one that takes on the challenge of representing a relatively large
and superdiversegroup. This could not be done without extensive discussion with social
sciences and humanities scholars, and, even more importantly, not without active involvement
of Roma themselves. Representing Roma in such a participative and complex endeavor could lead
to outcomes that are not easily predictable given the different perspectives and interests of the
stakeholders. But with other vulnerable populations considered interesting for genomics, such
participative options are already underway (e.g., Kowal and Radin 2015).
However, we believe that a closer look at the heart of the disagreement about representativity is
warranted. The conflation of the population geneticistsresearch objects genetically bounded
populations and social or political population labels runs deeper and is more widespread than
in the limited field of studies on isolated populations. The conflation of categories, markers and
population labels in genetic research with notions of ethnicity and race has been addressed in
multiple critical studies (Fujimura and Rajagopalan 2011; Fujimura et al. 2014; Nash 2013;
Fortier 2012; Koenig, Lee and Richardson 2008; Schramm, Skinner and Rottenburg 2012). The
four-grandparents-sampling approach is practiced widely and documented in recruitment guide-
lines and consent sheets of, for example, the 1000 Genomes Project. Nash describes how the
People of the British Isles Project,by aiming at recruiting people with ancestry that fit the ratio-
nale, focused on rural, rooted,and white (Nash 2013, 201).
As Nash (2013) warns, one needs to watch carefully for the omissions that such sampling
schemes entail. Of course, such a sample cannot represent any population, neither a historical
nor a present one. It only represents a certain portion of a population that practices a specific
social behavior. At many times, in many places, many people did not live close to where their
grandparents lived, but migrated or were displaced, or practiced mobile or commuting life styles.
Excluding these people from sampling schemes means excluding specific parts of a population.
Exclusions in the lab, if an individual DNA data set fails to meet the expectations, are also not
restricted to the Roma studies. The famous Novembre et al. study of 2008, claiming the represen-
tation of European population structure,stated: We applied various stringency criteria to avoid
sampling individuals from outside of Europe, to create more even sample sizes across Europe, to
exclude individuals with grandparental ancestry from more than [one] location, and to avoid
potential complications of SNPs in high linkage disequilibrium,adding that these numbers
exclude individuals who reported mixed grandparental ancestry, who are typically assigned to
locations between those expected from their grandparental origins(Novembre et al. 2008, 98).
If such data cleansing operations are implemented, the scope of the claim cannot extend to
represent a living population, such as all Europeans, or European population structure in general.
Such samples only represent people whose ancestors all come from the same group or region. As a
90 Veronika Lipphardt et al. Published online by Cambridge University Press
result, regions where marriage (or reproduction) between partners from two geographically
distant regions is rare as in rural regions, for example come to be better represented than
others. If, however, population geneticists stick to their goal of representing certain populations
as groups genetically bounded over long time periods, then the small sample sizes they deem suffi-
cient require further thought, if tapping into population substructure is to be avoided.
Contextualizing our case study in the critical interdisciplinary literature on human genetic vari-
ation research, we note that it provides an extreme case of what those specialists have warned
against, from both an ethical-political and a conceptual-methodological perspective. It is an
extreme case of problematic extrapolation, as Fujimura et al. have described:
Human geneticists make decisions about which subset of individuals to use to representa
raceor national groupin their sampling procedures and in their cluster analysis. The
subsets they use are obviously extremely small compared to the number of individuals
who identify with that race or nationality label. They thus extrapolate their results from a
small number of individuals to make inferences about a vastly larger number of individuals
who self-identify with the same race or nationality label and whose genetics have not been
studied. (Fujimura et al. 2014, 215)
It is a demonstrative case of what Catherine Nash (2013) has described as a problematic trend in
which continental and regional ancestriesare genetically identified and described as bounded
natural categories(203).
Our case study on the new genetics, focusing on a strand of research on Roma, adds to the
growing STS literature criticizing essentialist and racialized versions of grouping humans through
genetic accounts (Schramm, Skinner and Rottenburg 2012). Many STS scholars have addressed
the particularities of the geneticization of minority identities and its interplay with social and
political understandings of race and ethnicity (e.g. Egorova 2010; Kowal, Radin and Reardon
2013; Kyllingstad 2012; Tallbear 2013; Wade et al. 2014). Yet so far, Roma have been omitted
from this critical examination, even though genetic studies on Roma show stunning conceptual
continuities since their inception almost a century ago (Lipphardt 2016).
For our own perspective on groupness, we follow Hackings([1986]1999)dynamic nomi-
nalismwhich asserts that categorization and labeling are constitutive for a groups social forma-
tion and dynamics. To be sure, such a position is not one of a naïve constructivism denying groups
as real entities; as groups are socially defined, historically contingent and changing, codified into
legal systems, embedded in administrative and techno-scientific assemblages, self-internalized or
rejected and ubiquitous objects of everyday politics, they are indeed real and consequential (ibid).
From an STS perspective, populations(the postwar conceptual replacement of racein
human population genetics) are not natural kinds. Their genetic profiles follow from the models
and technologies used to measure similarity and difference, as well as from the assumptions and
decisions that have been made throughout the research process. Sampling strategies, genetic
markers and reference groups chosen for comparisons, all these may shape the ethnic groups
which genetic work purports to merely describe (MCharek 2005). The alignment of genetic data
to socio-political relevant racial and ethnic categories appears less an effect of data aggregation,
but rather reflects practical, pragmatic, conceptual, methodological, theoretical and socio-
politically relevant choices the researchers make (Bolnick 2008; Duster 2015; Fullwiley 2008;
Gannett 2003; Lee et al. 2001;Mcharek 2005). As STS scholars have demonstrated, genetic clas-
sification and social order are not separate endeavors, but they are co-produced in entangled proj-
ects of race and ethnicity (Reardon 2005; Tallbear 2013). It is worth noting that in some cases,
genetic research targeting minority groups is carried out by geneticists who self-identify as
members of these groups for whom they seek social justice, political and medical attention
(Fullwiley 2008, Bliss 2015). However, while genetic research on minority groups can have
empowering effects, the case of the Roma is just one of many cases in which it has no such effect,
Science in Context 91 Published online by Cambridge University Press