10.6092/issn.2038-3460/17023
This article proposes to consider the deterministic potential of genetic testing by confronting the genetic “mystique” portrayed in popular culture (and in certain scientific literature), in which DNA is seen as the soul of the cell and genes as master molecules (Lindee and Nelkin 2004), with molecular genetic testing laboratory practices. We will look at the question of what genetic testing does, that is, the practice of genetic testing itself. The particular molecular testing laboratory we will be looking at tests for genetic markers associated with DSD (Disorders of Sex Development). The testing process reveals a previously invisible component of the body through the aid of technology, and a complex picture unravels regarding the role genes play in being considered “un-well”.
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2038-3460
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Daniela Crocetti
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Tecnoscienza – Italian Journal of Science & Technology Studies
laboratory studies
The Molecular Genetics Testing Lab. On the Fringe of Personhood
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Essays
2012-06-16
2023-05-23
2012-06-16
2023-07-10
3-28
TS
Daniela Crocetti
2012/06/16
10.6092/issn.2038-3460/17023
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Università di Bologna
2038-3460
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laboratory studies
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The Molecular Genetics Testing Lab. On the Fringe of Personhood
https://tecnoscienza.unibo.it/article/download/17023/15908
3
                                                                                    Essay
The Molecular Genetics Testing Lab
On the Fringe of Personhood



Daniela Crocetti



      Abstract This article proposes to consider the deterministic potential of genetic
      testing by confronting the genetic “mystique” portrayed in popular culture (and in
      certain scientific literature), in which DNA is seen as the soul of the cell and
      genes as master molecules (Lindee and Nelkin 2004), with molecular genetic test-
      ing laboratory practices. We will look at the question of what genetic testing
      does, that is, the practice of genetic testing itself. The particular molecular testing
      laboratory we will be looking at tests for genetic markers associated with DSD
      (Disorders of Sex Development). The testing process reveals a previously invisible
      component of the body through the aid of technology, and a complex picture un-
      ravels regarding the role genes play in being considered “un-well”.

      Keywords 5-alpha reductase; bio-sociality; DSD; genetic testing; laboratory
      studies.




Introduction
    Genetic testing (the search for the presence or absence of genetic material)
and genomic testing (the search for factors that may encourage the expression or
action of genetic material, Dupré 2004) have entered the field of medicine in
numerous ways (O’Malley and Dupré 2005; Lindee 2005; Ankeny and Parker
2002). Genetic and genomic markers can indicate a family history of biologically-
linked diseased (as opposed to purely environmentally-linked), can help
understand if organ donors should be of similar or mismatched ages (based on
mRNA levels), or can indicate the possible variation of developmental pathways
in the body, among many other diagnostic practices.
    In this article we will be looking at genetic testing in relationship to
developmental pathways. More specifically, we will be looking at how this
biological data is framed in the context of the laboratory setting and laboratory
practice. We are interested in the potential “special status” of DNA/genetics, and
the use of deterministic versus systemic models in the framing of genetic material.



TECNOSCIENZA
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4 CROCETTI



  Greatly simplifying, we can describe two extremes of biological models: the
  deterministic model in which a singular biological component is believed to
  determine complex biological and/or social factors; and the systemic model in
  which the body and social factors must be understood as interactional and
  mutually dependent (regarding genetics see Allen 2002; Portin 1993). The
  particular laboratory we will be looking at tests for genetic markers associated
  with DSD (Disorders of Sex Development, referred to as Intersex syndromes
  from 1917 to 2006; Dreger and Herndon in morland 2009, pp. 205-209). The
  genetic/biological data found can shift the gender-assignment of a very young
  individual, and therefore has some very strong implications for the individual’s
  life path and experience of embodied identity.
      The relatively new aspect of this biological information in clinical settings (in
  our case from 2000) begs numerous questions. The testing process reveals a
  previously invisible component of the body with the aid of technology (Lock,
  Young and Cambrosio 2000; Clarke et al. 2010). Many of the questions that arise
  revolve around the biological developmental model of the body (deterministic or
  systemic), and the identity implications of the DSD diagnosis. How is the genetic
  data framed in the lab? Is it taken to be determining factor in forming the body?
  How is it interpreted regarding identity factors such as gender identity? Is it seen
  to be a biological piece in a larger complex puzzle? What is the role of laboratory
  practices in influencing the significance given to the biological data? What are
  the implications of the varying positions?
      The practices in the lab, aimed at individuating a specific genetic marker that
  is directly linked to diagnostic nomenclature, points to a deterministic
  framework. The genetic marker equals the syndrome. And yet, a complex picture
  unravels regarding the significance of both the syndrome and the role genes play
  in being “un-well”. As a colleague suggested, the genetic testing itself emerges as
  an artifact that participates in a complex web of techno-scientific practices.
  Interpretations of the genetic data vary from patient to physician, and from
  discipline to discipline. We will be looking at the overlap of interpretations in
  this particular genetics lab, which veers from the deterministic model one might
  assume.


  1. Genetic testing, identity metaphors and laboratory practice
      Genetic testing raises a red flag in a multitude of disciplines because it is
  assumed to propose a biologically deterministic model of personhood and
  pathology. What we are talking about is the conceptual difference of being
  genetic diseased (marked as defective in the presence of genetic variance;
  Billings, Rothstein and Lippman 1992), potentially un-well due to the statistically
  probability associated with the genetic marker, or simply diverging from the
  statistical norm regarding a genetic marker (with or without associated biological
  or social “problems”). Disability theory warns of a new eugenics (Taussig, Rapp
  and Heath 2003; Shakespeare 2005), in which pre-natal genetic testing could be
                                                              TECNOSCIENZA – 3 (1)        5



used to eliminate undesired and/or socially stigmatized (and often
misunderstood) biological difference.
    Rose and Novas (2004) discuss the concept of biological citizenship, pointing
to patient groups where group identity is based on a biological aspect, such as a
genetic marker (variation in a genetic sequence), or a genetically related disease.
The genetic marker is pictured as representing a biological entity that has a
special status above other biological markers (blood type, hormone levels, etc.),
somehow deeply tied to identity. The potential special status of genetic markers
has lead policy makers in various nations to propose bioethical guidelines that
regulate genetic biobanks as if genetic material were different than other
biological material1.
    Genetic material contains information that potentially (symbolically and
biologically) refers not only to the individual but also their family (through
hereditary markers) (Clayton 2003). This consideration, combined with the
special status given to DNA (and genetics) as a primary biological marker in
explaining personhood, makes genetic material seem especially sensitive and
personal. DNA has rapidly acquired vast symbolic currency in contemporary
society, interpreted as the “book of life”, or the biological key to who we are
(Lindee and Nelkin 2004). The public image of genetic information is often
biologically deterministic, relating to individual, family and group identity.
    The term biologically deterministic can mean two things: a theory that
interprets life from a strictly biological point of view; or a theory that proposes
biological factors determine how an organism (such as people) develops,
behaves, interacts, etc, to the exclusion of social and/or environmental factors.
Popular discourse will often utilize a deterministic image of genetics, transferring
the rhetoric of heredity, shared family traits and behavior, to this biological
marker: “he’s hot headed, it’s in his genes” (Lindee and Nelkin 2004).
    Biological scientists, however, claim the charge of biological determinism is a
simplistic accusation, seeing as a large part of contemporary genetic research
looks directly at the interaction between genes and the environment. And yet,
biological determinism is the explanatory key between the subtly differing
concepts of being genetically diseased, seen as unhealthy, flawed, pathological,
and having a genetically linked syndrome, seen as a possible difference in the
development of the organism which may or may not affect the function of said
organism.
    In this article we will approach the genetic testing (and biological
determinism) debate from a different angle; the laboratory practice of genetic
testing. In this manner we can directly observe if and how deterministic theories

   1
      UNESCO International Declaration on Human Genetic Data (2003), http://www.eu-
patient.eu/Documents/Projects/Valueplus/Patients_Rights.pdf, accessed 11/03/2011; Addi-
tional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic
Testing for Health Purposes (2008): http://www.jus.uio.no/english/services/library/–
treaties/03/3-04/genetic_testing.xml, accessed 11/25/2011.
6 CROCETTI



  play out in the practice of genetic testing. Geneticists often propose a systemic
  biological framework, identifying genetic markers as important biological
  information that is dependent on an interactional system. For instance, epi-
  genetics looks at the environmental factors, such as heat or timing that affect the
  manifestation or expression of genetic material, declassifying the genetic material
  as the determining agent; Evo–Devo genetic theory focuses on evolution and
  development, yet again proposing a multi-dimensional model regarding the
  relation of the genotype (genetic composition of the organism) to the phenotype
  (composite of an organism's observable characteristics or traits) (Jablonka and
  Lamb 2005). Both of these biological theories dismiss neo-mendelian
  deterministic models that claim one gene directly represents one biological (or
  social) trait. If genetic material is declassified from “the book of life” to part of
  an intricate whole, it loses its potential as the new eugenic threat.
      This article proposes to consider the deterministic potential of genetic testing
  by confronting the genetic “mystique” portrayed in popular culture (and certain
  scientific literature), in which DNA is seen as the soul of the cell and genes as
  master molecules (Lindee and Nelkin 2004), with molecular genetic testing
  laboratory practices. We will look at the question of what genetic testing does,
  that is, the practice of genetic testing itself.
      As originally proposed by Kuhn (1962), laboratory practices reveal the
  boundaries of the scientific habitus, and thereby the rationale that creates the
  practice. Latour and Woolgar (1979) argue that by observing scientific practice
  we are not discussing whether a scientific fact is valid, but what scientists (and
  the network of actors involved in reinforcing a scientific fact) think this fact does
  and means. The meaning of the scientific object is where the scientific “fact” is
  transformed into a social object and practice (Latour 1987). In the molecular
  genetic laboratory, the digital bio-data results of the testing processes are
  translated into the social realm when practical significance is given to the
  material being manipulated. Genetic test results in-of-themselves have no innate
  meaning, they acquire meaning in context.
      We hope to demystify the hidden meaning attached to DNA in social
  discourse in and out of the lab. Medical practice essentially reflects a useful
  model of biological theory, aimed at achieving a specific result. Genetic testing is
  aimed at finding a biological marker that hopefully inserts itself into a
  therapeutic protocol that better serves the patient. At the current state of
  technology genetic testing primarily serves as a diagnostic tool. By achieving a
  more accurate diagnosis one hopes for better medical care.
      Whether the genetic material is interpreted deterministically or systemically
  can greatly alter the therapy model offered to the patient. In our case, it can also
  affect the gender assigned to the patient. In addition, how the genetic
  information is communicated greatly changes the interpretation, or
  stigmatization, of the diagnostic category. We worry about biological
  determinism in genetic testing for two primary reasons, the potential threat of a
  new-eugenics (the elimination of potential humans due to genetic/biological
  variance), and the conceptual reduction of complex traits such as identity and
                                                              TECNOSCIENZA – 3 (1)        7



behavior to a handful of bio-data. However, are these deterministic concepts
part of the theory embedded in molecular genetic laboratory practices? The
answer itself is somewhat ambiguous. A deterministic vision can inform the
rationale to perform genetic tests, and in turn, inform their interpretation. In
some cases the genetic data will shift the deterministic model from some other
part of the body to itself. Simply, the genetic artifact is given meaning through a
complex web of techno-scientific interactions informed by numerous theories
regarding biology, the body and their social relevance.


2. The power of representation
    The symbolic power of the gene, DNA and genetic medicine have been
explored by Susan Lindee and Dorothy Nelkin (2004), who claim that the “DNA
Mystique” has captured the medical and public fancy to a point where the
genetic component of a cure or research program in itself becomes a marker of
validity. This is possible because DNA is portrayed as the symbolic biological
locus of heredity, the passage of traits from one generation to the next. People
often say: “it’s in his genes”, when someone acts like their parents or family. In
molecular biology the passage of complex traits is believed to be an intricate
process involving much more than just DNA. However, symbolic logic pushes
DNA, and genes, to represent even complex social traits such as behavior and
identity.
    Lindee and Nelkin argue that genetic symbolism is powerful because it fits so
easily into other social metaphors: that kinship is in the blood, that race is
biological, that people have “natural” abilities, that physical disability is a sign of
overall dysfunction, and so forth. They are quick to point out that these social
metaphors are not based on scientific facts, but use scientific facts to reinforce
the naturalization of social inequality. The overlapping symbolism in eugenic
discourse and genetic testing makes the terrain of what genetics means and does
uneasy.
    Lindee (2005) discusses the positivist rhetoric surrounding genetics in
Moments of Truth in Genetic Medicine, rhetoric that offers genetics as a potential
miracle for every ailment. Genetic medicine is currently primarily genetic testing,
which offers itself as a diagnostic tool that does not add any new therapeutic
option to pathology treatment. However, diagnosis itself can be a fundamental
aspect of treatment. Lindee points out how patient groups will lobby for genetic
research, feeling that they are not being taken seriously otherwise. A genetic
marker can put a disease or syndrome on the map of pathologies, creating
funding systems, attention, etc. The genetic marker, however, has the primary
function of imbuing pathology with an added biological reality. With a genetic
marker one can say “I have this” with certainty, as opposed to referring to a set
of symptoms.
    There is a part of genetic rhetoric (and practice) that is inherently
deterministic. The gene was conceptualized, before it was actually considered a
8 CROCETTI



  physical entity, as a biological unit of heredity (Morgan 1935). It was proposed as
  key feature in dictating development. Yet, from the very beginning of what we
  consider genetic research, the deterministic power of the gene was ambiguous.
  Genetic research flowered in the fields of agriculture and animal husbandry,
  where both line-purity and advantageous mutations are sought (Theunissen
  2008). Experiments in creating a productive product in these fields (before and
  after genetic theory) had always highlighted the possible combination of
  negatively perceived traits with positive ones. In addition, early drosophila fly
  experiments indicated the role of environmental factors (timing, heat, etc) in
  gene expression or phenotypic development. The gene was given a dominant and
  necessary role in development (Maienschein 1984), yet there were always other
  factors to consider.
      Of course this symbolic dance with undisputable biological truth and identity
  is what makes the genetic discourse so interesting and tricky. A genetic marker
  may often aid a linguistic shift from saying, “I have this syndrome” to “I am this
  characteristic” as can be the case with mental illnesses and physical differences (I
  have/am schizophrenic/disabled etc.). Based on the social use and/or prejudice
  surrounding a medical diagnosis, patient groups might seek or shun genetic
  testing. In both cases, the genetic marker is imbued with the power of the final
  truth of biological explanation (Rapp 2000).
      Since genetic testing was introduced in DSD diagnosis2 genetic markers
  associated with certain syndromes have become biological markers that
  indisputably confirm the presence of said syndromes. The genetic data will
  generally trump other biological data in the choice of gender assignment.
  Depending on the position taken by the physician, the genetic data can be seen as
  more relevant than other aspects of physical gender presentation or expressed
  gender identity (in older patients).
      In some cases the genetic personhood metaphor has been extended to include
  complex social traits such as behavior and sexual identity. Popular science
  reporting is rife with discovery of genes for bi-polarism, homosexuality,
  compulsive behavior, and so-forth. Many molecular biologists argue that it is
  currently impossible to find a singular biological marker for complex traits, that
  may or may not have biological components, such as behavior. Utilizing Lindee
  and Nelkin’s argumentation, we could imagine that it is the DNA mystique itself
  that creates research funding for projects that are potentially scientifically un-
  sound and have no therapeutic value. A prime example is the search for the
  homosexual gene.
      On a lesser scale, DSD patients have seen much funding moved towards
  identifying genetic markers. Italian DSD patient group members (AISIA and
  KIO3, representing respectively Androgen Insensitivity Syndrome and Kline–
  felter’s syndrome) have participated in genetic data collecting for the euro DSD
  network. While one AISIA member is intrigued by her genetic status (she has a

  2
      In the year 2000 for the Italian university hospital used as case study in this article.
  3
      http://www.aisia.org/home.html; http://www.klinefelteronlus.it/
                                                            TECNOSCIENZA – 3 (1)       9



pen-pal in Canada with the same genetic marker), she wonders how this genetic
information is going to help her with the issues associated with the syndrome,
such as adequate hormonal replacement therapy, sterility and the social stigma.
She and others in the group hope that a new reading of genetic variance can help
reduce the stigma associated with DSD. KIO founder echoes AISIA’s concerns,
hoping that money will be put towards quality of life research, such as on the
health effects of hormones. He and other members of KIO indicate that
increased chromosomal testing has helped reduce the stigma of Klinefelter’s
syndrome specifically because it has shown how common it is (estimated at 1:700
male live births; Fausto-Sterling 2000, p. 53).
   Genetic testing can be broken into two primary categories, prenatal and post-
natal. Pre-natal testing carries with it the negative association with the eugenics
movement and the moralization of normality. Nikolas Rose (2006)4 discusses the
nuance of genetic diagnosis as being “potentially unwell”, highlighting the link
between the predictive nature of genetics and identity. In a similar manner
Margaret Lock (2005) refers to the increase of genetic testing as the new divining,
a new diagnostic tool that indicate probabilities, much like the ancient Greek
oracles. Pre-natal testing reflects not only our expectations of what technology,
or bio-medicalization, should be able to do for us (Ettore 2000), but also the
expectation that we reject a perceived imperfection (Rapp 2000). Ryna Rapp
postulates that this “modern divining” (Lock 2005) incurs social pressure to do
something about this advanced knowledge. Rapp indicates that potential mothers
will be shamed or held accountable for choosing to continue a pregnancy where
prenatal testing has revealed a genetic variance associated with syndrome
categories.


3. The power of representation. Visualizing molecular genetics.
   The laboratory setting we will be looking at instead deals primarily with post-
natal testing. Therefore the eugenic threat is an unpleasant shadow that has
already been avoided. The genetic markers in question, that we will meet in the
next section, evoke Rose’s conception of bio-sociality. The genetic markers are
laden with the potential for the individual to be un-well, as well as implications
regarding identity. The genetic markers sought by this specific laboratory have, in
a relatively short time, wed themselves with the definitions of the syndromes they
represent. The markers therefore affect the identity of the individual, and the
identity of the diagnostic category.
   In genetic testing, DNA is visualized, converted from an invisible component
in a blood sample to a visible digital representation. As Luc Pauwels (2005)
reminds us, these scientific visualization practices seek not only to render the
invisible visible, but also to provide a scientifically useful representation of the
biological material. DNA material is converted into bio-data through a complex

4
    Building on his work with Carlos Novas (2000).
10 CROCETTI



   series of processes that involve chemical additives, light wave technology and
   electro-processes. One of the final steps in genetic testing, genetic sequencing,
   utilizes DNA electrophoresis to separate DNA fragments by size. The end result
   of this process visualizes the DNA strand as a digital list of letters that represent
   the nucleotide sequence.
       Genetic testing (in its many guises, from adult diagnostic testing, to pre-natal
   testing, to forensic testing) provokes a wide variety of debate and conflict of
   opinion, which can be considered on two axes. The scientific axis questions the
   accuracy and utility of a mechanistic representation of genetic material. The
   social axis questions the relationship of DNA to personhood and identity. Can a
   digital representation of biomaterial really tell us who we are, what is right or
   wrong in our body, whom we came from? The reductionist image of DNA irks
   our sensibilities surrounding our complex sense of identity, yet it also irks
   branches of science that insist on a complex model of the organism.
       Due to the complexities of development, in certain DSD cases, the “sex”
   chromosomes (XY,XX) do not “determine” the sex of the individual, let alone
   their gender. Biological sex has come to be simplistically represented by the sex
   chromosomes since their “discovery”, alternatively represented by the gonads,
   the genitals, or secondary sex characteristics throughout history. US 1920s and
   1930s “sex” hormone research indicates perhaps more accurately that biological
   sex is the total impression of the differences in male and female bodies (Rechtor
   1997). The genetic marker linked with a given syndrome is associated with the
   development of all the biological components of sex, as well as the statistical
   probability of gender identity.
       Genetic testing superficially seems to offer a biological model, which follows
   the neo-mendelian ‘one-gene one trait’ model, implying a deterministic and
   mechanistic vision of DNA, life and the body. This is in contrast with epi-
   genetics and other branches of molecular biology that view genetic material as
   part of a systemic process, in which the mere chemical structure of nucleotides
   does not in itself “code” for anything if taken out of its specific biological context
   (Jablonka and Lamb 2005). Epi-genetics points to simple factors, such as
   temperature and timing, which can drastically change the development of an
   organism while maintaining the same genetic material. Epigenetic, but also
   bioethical, historical and sociological discussions around the practice of genetic
   testing question the limits of the mechanistic model of genetics (Ankeny and
   Parker 2002). The sociological critique mirrors the epi-genetic critique; that life
   cannot be encapsulated in one biological process (Lippman 1991; Goodman,
   Heath and Lindee 2003).
       In most cases, genetic testing is not seeking to mechanistically define the
   individual through its genes, it is instead looking for a genetic marker that will
   confirm what the medical team already thought was the case based on anecdotal
   information and other symptoms. Finding the genetic marker of a suspected
   syndrome can greatly aid treatment by canceling-out the use of dangerous or
   useless therapies. That DNA, genetics, and genomics have taken on more
   symbolic meaning than the materials themselves can actually provide or perform
                                                            TECNOSCIENZA – 3 (1)        11



is beyond a doubt. The reification of genomic information has lent itself on one
hand to a positivistic faith in what this information can provide for humanity,
and on the other, a plethora of bioethical quandaries about how to deal with the
rise of the new quantities of biological data being gathered and stored.
    The scientific visualization process of DNA proposes genetic material as an
important biomarker, worth both the economic and temporal investment. Yet it
also proposes DNA as an inert object, which must be manipulated in order to be
visualized and interpreted, and therefore qualified as bio-data. The DNA
manipulation/visualization process is mechanistic, expected to produce
consistent repeatable results. Testing for specific genetic markers is also
atomistic, in that it practices the belief that biological objects are important and
relevant separate from the organism and separate from their dependent
biological processes (Allen 2002). And yet, that the biological entity is expected
to be consistent and atomistic in a mechanistic testing process, does not imply
that the mechanism of the biological entity itself is expected to be atomistic and
deterministic.


4. Creating Data
    This description of the average process of molecular genetic testing comes
from a two-year period of intermittent observation in a University Hospital in
Italy. I alternately shadowed the four team-members through their daily routine,
as a participant (note-taking, question asking) observer. I charted the arrival of
several patient cases/blood samples from their arrival to the communication of
the test results/diagnosis to the team physician. I also charted the testing phases,
the interaction between the lab members, and the interaction with the larger
DSD team. Through situational analysis (Clarke 2005), I hoped to decipher what
the team members thought they were doing. What they thought was the aim of
the testing procedure, what was a good result, good practice, but also what they
thought the role of this bio-data was in the overall treatment procedure. Beside
this particular focus on the molecular genetics lab, I also frequented Italian DSD
patient groups, and conducted in-depth interviews with other members of the
DSD team.
    The lab I frequented is a primary Italian lab that tests for a handful of genetic
markers that indicate certain DSD (Divergence/Disorders of Sex Development)
syndromes. The lab can be considered primarily indicative of the testing protocol
for these genetic markers, secondarily of Italian laboratory practice. As Mol
(2002) indicates in her own research, this laboratory setting is neither exemplary
nor unique to the national context, but provides interesting insight into the
practices involved.
    This lab receives blood samples from all over Italy, rendered doubly
anonymous through a coding system. Molecular testing became routine for DSD
in this university hospital in 2000. Since then, the DSD team has been expanding
their research on the other DSD health factors implicated by the genetic markers.
12 CROCETTI



   At this point, however, molecular testing primarily supports diagnosis accuracy
   and corresponding gender assignment. They test for 6 genes that are implicated
   in CAH (Congenital Adrenal Hyperplasia)5, AIS (Androgen Insensitivity
   Syndrome)6 and 5-alpha reductase (Syndrome name and genetic marker are the
   same)7. As we will briefly discuss later, the molecular testing has had the
   unexpected repercussion of diminishing irreversible non-consensual childhood
   surgery (one of the bioethical hotspots in DSD treatment), specifically in 5-alpha
   reductase and PAIS8 (Partial Androgen Insensitivity Syndrome) diagnoses. from
   the 1950’s onward most centers throughout the world adopted John Money’s
   Optimal Gender of Rearing (OGR) care model (Dreger 1999; Fausto-Sterling
   2000; Karkazis 2008). In Money’s model social factors such as the childhood
   rearing environment trump biological factors in the establishment of gender
   identity (a model which was greatly appreciated in the 70’s as it seemed to favor
   social determinism). However, Money saw the genital form as being the most
   important factor in influencing the rearing environment (unambiguous treatment
   as one gender or another) and established the protocol of early childhood genital
   surgery (preferably before the age of three to avoid memory of the experience)
   (Dreger 1999; Karkasiz 2008) that also lead to a policy of secrecy in which the
   patient (and at times the parents) was left in the dark regarding their diagnosis
   and treatment. Unfortunately genital surgical techniques often require

   5
     CAH indicates the hyper-activity of the adrenal gland, leading to a high production of ster-
   oid hormones (such as hydro-testosterone), that can lead to: salt wasting in some forms; in XX
   children mild to severe masculinization of the genitals in-uterus, or after birth; early on-set
   puberty; unusual hair growth. This syndrome is clinically subject to the highly controversial
   early childhood genital surgery (to de-masculinize the genitals, similar to clitorectomy) and
   stigmatization of “ambiguous” genitals. It has also suffered clinically from the confusion and
   erroneous overlap of concepts such as gendered behavior, gender stereotypes (especially re-
   garding energy levels and aggressive play), gender identity, and sexual identity. Varies from
   0.35% of Yupik Eskimos to 0.0005% New Zealanders with an estimated average of
   0.00779% (Fausto-Sterling 2000). As with most DSD syndromes CAH was subject to a legacy
   of secrecy, lack of informed consent and shame.
   6
     AIS indicates the insensibility to androgens in a XY individual. In the complete form the in-
   dividual will have “male” gonads and “female” genitals and secondary sex characteristics
   (1:13,000). In the partial form the genitals may be considered “ambiguous” and subject to ear-
   ly childhood surgery (1:130,000). This syndrome is subject to gonadectomy for psycho-social
   (not functional) motives, vaginal lengthening surgeries (now dilation is offered) and stigmati-
   zation due to the belief that XY chromosomes “means” a person is a man. AISIA is the Italian
   patient group. http://www.aisia.org/home.html.
   7
     5 alpha-reductase, is caused by a deficiency in the enzyme 4 steriod 5-alpha reductase. In the
   Dominican Republic it is known as Guevedoche (lit. balls at twelve), due to increased and dif-
   ferent forms of androgens at puberty that cause the body to “masculinize”. In cultures where
   this syndrome is common, some individuals raised as girls retained a female gender identity,
   however most take on a male gender identity (more advantageous in the social hierarchy,
   Herdt 1996, p. 437). In western bio-medical culture this syndrome is thought to lead to the
   development of a male gender identity (see Hertz 1996).
   8
     Often used as a catchall diagnosis, once very diffused, now primarily in the absence of a ge-
   netic marker.
                                                                TECNOSCIENZA – 3 (1)         13



maintenance or repair (e.g. dialation of the vaginal canal), implicating numerous
medical visits and examinations often in front of numerous medical students
(critically described as medical stripping; Morland 2009) (Dreger 1999), of
course children/patients intuit that something is “wrong” with them, and/or their
genitals (leading to shame and stigma; Morland in morland 2009, pp. 285-312).
In addition, most patients were assigned the female gender, simply because the
female genitals were considered “simpler”, as a noted surgeon stated it was
“easier to dig a hole than built a pole” (Hendricks 1993, pp. 10-16; Dreger 1999).
    There is little space in this context to discuss the ethical conundrums of DSD
treatment9, while the entrance of molecular testing into care protocol has had
interesting and unexpected repercussions. The gender assignment implications
underlying DSD diagnosis highlight the identity aspects of the genetic discourse.
Medical curiosity surrounding gender in the body has often had
reductionist/deterministic overtones, focusing on one component of the
gendered body (such as the gonads or genitals) or another. In contemporary
biological models of sex there is debate and controversy over the developmental
pathways of biological sex, and the locus of sex (that is: the factors that are
considered to be most important in swaying the gendered body to develop in one
way or another).
    At the end of the nineteenth century, hundreds of theories of sexual
differentiation could be documented, but by the 1920's all theories would take
into account sex chromosomes and sex hormones (Maienschein 1984, p. 457).
DSD syndromes displace sex chromosomes as the primary organizer of sex in the
body, and since their very conception, researchers looked deeper for the
mechanisms leading to sex determination. Already in 1927 the Danish geneticist
Øyvin Winge proposed that there must be a ‘testis determining factor’ on the Y-
chromosome, which was linked to the development of the male phenotype
(Holme 2007, p. 152).
    Genetic markers, in conjunction with hormones and hormone receptors came
to be seen as responsible for disrupting the one to one relationship between
chromosomal sex and phenotypical sex (the fully developed type or the external
appearance of the body). The phenotype is then believed to represent the gender
identity of the individual. It is still often popularly believed that the sex
chromosomes make one “really” a man or a woman. Shifting the “real” indicator
of biological sex from the chromosomes to genetic markers does not entirely
depart from a deterministic rationale, yet leaves some space open for a systemic,
interactional model.
    The genetic marker, in the case of a suspected DSD, is subject to a diversity of
explanatory models that range from reductionist to systemic. It is important to
keep in mind that the genetic test is performed when a diagnosis has already been
proposed, and the genetic marker serves to confirm or adjust the suspected

9
  Primarily regarding nonconsensual childhood genital surgery, lack of informed consent,
medical stripping, stereotyped idea about both social and physical gender, etc. See Dreger
1999; Fausto-Sterling 2000; Karkazis 2008; http://www.isna.org/index.php
14 CROCETTI



   diagnosis. If a genetic marker is found, the diagnosis acquires a higher level of
   indisputability. If it is not found, other anecdotal and biological information will
   support the diagnosis. While the genetic marker trumps all other biological
   material in diagnosis assessment, it is not necessarily taken to determine the
   development pathway on its own.
       As is the case in most medical genetic laboratories, in this lab the technician
   already knows what they are looking for before they start the testing process.
   They are specifically asked by the medical team or collaborating hospital to look
   for the genetic markers associated with the suspected syndrome, therefore they
   are not directly involved in the diagnostic decision process. The anecdotal and
   physical data acquired in medical interviews with the patient have already led the
   medical team (in this hospital led by a pediatric endocrinologist) to suspect a
   diagnosis, or a potential genetic marker. For instance, several AISIA members
   have been re-diagnosed from PAIS to different syndromes such as 5-alpha
   reductase or Leydig Cell Hypoplasia10. there has been a general effort to use
   genetic testing to clear-up earlier ambiguous diagnoses.
       One AISIA member had a difficult process digesting her renewed diagnosis as
   5-alpha reductase, having long accepted (or at least digested) her PAIS diagnosis
   and the subsequent negative surgical experience (resulting in almost total lose of
   genital sensation). She has a female gender identity, non-stereotyped gender
   behavior and a homosexual orientation. She mourned the possibility that she
   could have been raised a boy and avoided the type of medical treatment she
   received, however, after a year or two, she decided she was happier as a woman
   (despite and because of her experiences)11. In the past, non-stereotypical gender
   behavior and/or homosexual orientation would cause the medical team to
   reevaluate the gender assignment. The very different categories of gender
   identity, gendered behavior, gender appearance and sexual orientation are still
   often confused or overlapped. Historian Elizabeth Reis indicates throughout the
   medical obsession with then termed pseudo-hermaphroditism in the 17th and 18th
   hundreds doctors would often put aside the gonadal information (then
   considered to be the biological determining factor) in order to affirm a gender
   assignment that rendered the individual heterosexual (doctors had the authority
   to influence the assignment of legal gender status).



   5. Creating Data. Diagnosis


   10
      Leydig Cell Hypoplasia is a condition resulting from reduced or absent functioning of
   Leydig cells which leads to insufficient production of androgens, which can affect sex differ-
   entiation.
   11
      While there are no conclusive statistics, it appears that there is a higher instance of
   transgenderism (transition from one social gender category to another) in the general popula-
   tion than among those diagnosed with a DSD, especially since the protocol of assigning most
   patients the female gender has been revised.
                                                                      TECNOSCIENZA – 3 (1)           15



    The lab team searches for the genetic marker that has been indicated by the
physician. The combination of the identified related genetic pattern results and
the tacit knowledge of the technicians leads to either a positive or negative result,
there is no grey-scale interpretation of data that may or may not reflect a
scientific paradigm12. However, each team member may have their own
interpretation of what the test results mean, regarding diagnosis and the gender
identity of the patient.
    The laboratory procedure tries to isolate the molecular component that is
associated with the diagnosis they are leaning towards. I accompanied different
technicians through the steps that lead to the isolation of the genetic marker,
who were clearly experts in laboratory procedure, not necessarily in gender or
social theory. I was shown how to extract, purify, determine the concentration
of, and then amplify the DNA. It certainly seems like a miracle to render DNA
sequences visible, through this cleaning and replication process. It also requires a
lot of patience. Throughout the various processes we added chemicals and
centrifuged, taking always-smaller samples, rendering what had once looked like
blood into a clear liquid like water. The DNA is then read and analysed for the
specific marker that is being looked for. Hidden in the blood is the significant
biological object that will be read. However, this object must be manipulated in
several ways and even boned with other chemicals before it is palpable as useful
data.
    One blood sample will go through the same procedure several times, to test
for the different suspected markers but also to guarantee the accuracy of the
result. One blood draw provides enough biological material to perform multiple
tests, and leave stored material for future use. Blood arrives from all over Italy, or
by foot from an adjacent building. The day I arrived, in fact, we received blood
from a local source that had already been coded to protect the patient’s identity.
The only remaining identifying factor was the suspect diagnosis.
    One of the technicians brought me to the ward where they took the blood
samples, four beds in a room, and on the way, we passed the psychologist and
head endocrinologist, with the family of a child with a 5-alpha reductase
diagnosis. This family had a hard time coming to terms with multitude of
explanatory models they were offered by the medical team and the society at
large. They originally wanted to maintain the female gender assignment (due to
genital size) and modify their child’s genitals to seem less “ambiguous”,
following Money’s OGR model. However the medical team suspected and then
confirmed the 5-alpha reductase diagnosis, which made them push for a male
gender re-assignment. The 4-year-old child in this case was included in the
process to some extent, and knew that their gender was considered “unclear”,
and would ask which bathroom they should use. The psychologist later indicated
that the child did not clearly indicate a gender preference, yet their stress
symptoms (jaw clenching) greatly reduced when the finally male assignment

12
  See Turrini (2011) for a discussion of variable visual representation versus digital representa-
tion.
16 CROCETTI



   decision was made (remaining unclear if the stress alleviation was due to the end
   of ambiguity and intense medical attention, or the male gender assignment).
      The 5-alpha reductase diagnosis, through the visualization techniques of the
   molecular genetics lab, changed the child’s life in many ways: from the
   medicalization techniques he will live through, to the gender he was assigned by
   the medical team. Equally importantly, this diagnosis led the medical team to
   advise against irreversible genital surgery and attempt less invasive methods. The
   child started topical genital androgen treatments to increase the size of the
   genitals, thereby immediately avoiding sensation reducing surgical techniques,
   hopefully leaving him the decision to have, or not have, genital surgery at a later
   date13.




   6. Creating Data. Laboratory Practice
      Back in the lab, to extract the DNA we took 3ml of blood and added a
   patented solution (Cell Lysis Solution) to break the cells. I found it very
   interesting how much of the testing process was standardized outside the lab,
   through patented formulas and machinery with specific protocols. These
   patented processes, of course, still leave room for individual tacit knowledge in
   practice. Each technician had their area of specialty, their tacit knowledge and
   their quirks. My first informant had been with the lab for 30 years, from before
   the time in which you needed a specialized degree to be a molecular lab
   technician, and he was a local. He explained to me the progression of DSD
   chemical diagnosis techniques, and abandonment of others, from radioactive
   processes to siphoning chemicals like one does with gasoline. They used to search
   for sex hormones and growth hormones, now they look for genetic markers.
      My first informant made it very clear that he thought the most important
   thing in the lab was to be good technician, which is to be clean, organized and
   thorough. He was not particularly interested in the latest genetic theories. He
   seemed to portray the idea that the lab techniques were all similar in the end;
   machines, solutions and protocol changed, but the process was the same. Joking,
   he answered my questions as to why he did certain things with a little rhyme,
   “non so per che cosa, so fare le cose” (“I don’t know why we do things, I know
   how to do things”)14. This was obviously ironic, because he had little things to
   say about everyone, and every technique. He had been in the lab longer than
   many others, mastering the techniques as they changed. He implied that he
   always handled the extraction due to his precision, the others (who all had

   13
      Many patient groups advocate the delay of all irreversible early childhood genital surgery,
   indicating this intimate procedure, with its many side-effects, must be decided by the individ-
   ual/patient. This decision is supported by the Italian National Bioethical Committee (Comita-
   to Nazionale di Bioetica 2010) but is not part of Italian medical protocol or law.
   14
      This direct quote is awkward in Italian.
                                                            TECNOSCIENZA – 3 (1)        17



specialized degrees in genetics) left things a mess, an obstacle to accuracy. There
were glass jars everywhere, like a glassmakers workshop, but everything was
sterile with surgical plastic inside. Disposable products place the responsibility of
sterility on the manufacturer, removing it from the lab.
    It was like returning to college chemistry: titration (drip), and centrifugation.
Every step used different droppers with differing levels of accuracy, and different
centrifuges for differing sample sizes. The first (extraction) process broke the
cells to extract the DNA, through the use of a chemical solution and the
centrifuge. The second step purified the DNA with a second chemical solution
(Nuclei Lysis Solution) and again the centrifuge. One needs to know how to
unpack DNA by inviting the unwanted material to separate away. Besides the
glass jars, we had entered into the world of standardization and patents. The
choice of the right tools for the job (Clarke and Fujimura 1992), that is the
scientific justification of instruments and protocols, are increasingly being
decided outside of the laboratory, by manufactures and increasingly international
protocols. Each machine came with a brochure, pre-mixed chemical solutions
and a protocol. This repetition of standardization evokes the mechanistic nature
of the laboratory process.
    For instance, we purified with a Wizard® genomic DNA purification kit. As
we followed the instructions from the kit, however, I found every step had its
own non-written tacit-knowledge aspect: agitate like this, it should look like this
when it comes off the bottom, etc. This tacit knowledge displayed an intimate
relationship to the visual aspects of DNA in its various manipulated forms, each
of which are different forms of readable data. The first several rounds of
centrifugation left the blood sample red, a clot floating in the CLS, which is
dispersed and then put back together through the aid of a protein solution.
Another round of the centrifuge cleans away the red blood cells and we were left
with a clear liquid.
    The first “miracle”15 of DNA visualization is performed by Isopropyl alcohol
(C3H8O) that reconsolidates the material, and you can see the DNA floating on
the bottom of the plastic vile. That is, you have created something you can look
at under a microscope. To the layperson it would just look like a little dirt in
water. For the technician it is already bio-data, potentially useful information.
When you remove the liquid there is a little substance that seems like tiny strands
of cotton. The cleaning process is replicated with alcohol and then the DNA is
re-hydrated. The samples are then kept in different fridges based on their
properties.
    On a different day in a different room we determined and amplified the DNA.
The previously cleaned sample is “read” by a 260/280 nm wavelength. When
DNA is isolated from organisms, frequently some protein remains present in the
DNA solution. Protein is tightly bound to the DNA and the complete removal of
protein is not always possible. To determine the concentration and purity of the
DNA solution, the absorbance of UV light is measured in a spectrophotometer.

15
     As described by the first technician.
18 CROCETTI



   Both protein and DNA absorb UV light, but they have different absorbance
   curves. The peak of light absorption is at 260 nm for DNA and at 280 nm for
   protein. When you run a spectrum of absorbance with varying wavelength, you
   should see that both curves slightly overlap in the area between, and including,
   260 and 280 nm. Thus, when a solution contains both protein and DNA,
   absorbance at 260 nm is mainly due to the DNA present, and a little bit by the
   protein. At 280 it is the other way round. By dividing the two absorbance-values,
   one can calculate the purity of the DNA solution. These barely visible cotton
   strands of DNA are visualized in yet a different way, as light absorption, yet this
   bio-data has no practical application, it needs to be further manipulated.
       In the amplification process different enzyme primers are added to a
   standardized chemical mixture in a process called the Polymer Chain Reaction,
   which multiplies the chain to seem infinite16. The polymer chain reaction method
   relies on thermal cycling, consisting of cycles of repeated heating and cooling of
   the reaction for DNA melting, and enzymatic replication of the DNA. 70º C
   opens the molecule, at 95ºC the primer attaches itself, and at 68ºC the chain
   forms. Primers (short DNA fragments) containing sequences complementary to
   the target region, along with a DNA polymerase (after which the method is
   named), are key components that enable selective and repeated amplification. As
   PCR progresses, the generated DNA is itself used as a template for replication,
   setting in motion a chain reaction in which the DNA template is exponentially
   amplified. PCR can be modified to perform a wide array of genetic
   manipulations17.
       The technician indicated the importance of writing everything down and
   checking each step, so as to not forget anything. The protocols they applied,
   beyond the protocols in the brochures, seemed aimed at regulating human
   fallibility, techniques that made sure you incorporated every step, with little room
   for variability. These first two technicians (one trained in genetic theory and one
   not) seemed to have little interest in the meaning or the result of their practice
   (limiting themselves to comments about the importance of an accurate
   diagnosis), yet they were very proud of their technique, their craftsmanship. The
   important role the genetic-data has in the diagnostic process is on some levels
   taken for granted.
       The steps in the visualization process indicate an intricate understanding of
   the materiality of genetic data, how it will behave in certain environments, how to
   isolate it, how it is made. It was hard to identify any specific genetic theory in the
   visualization process, whereas many other scientific theories were at play, like
   thermodynamics, basic chemistry etc. The prepared solutions are complemented
   by a control and a water sample. Technicians often use their own bio-mater in
   the control process, as a way to make sure they have not contaminated the
   samples.


   16
        As described by the second technician.
   17
        Description synthesized from written lab instructions and oral instruction.
                                                            TECNOSCIENZA – 3 (1)        19



    The amplified DNA is purified by yet another patented process, using the
QIA quick spin kit and the QIAquick Nucleotide Removal Kit. The slogan in
their instruction pamphlet reads “making improvements in life possible!”. The
patented kits included these small bursts of propaganda in their instruction
manuals, which reflect the “DNA mystique”, however the technicians used them
to explain to me why there were not separate lab guidelines. The kit even
includes the right size tubes for the machine so there is no need to have separate
lab supplies. The technician counted as he laid out the samples in the machine
with the buffers, indicating that everyone develops different methods to make
sure that they have not skipped any. The tacit knowledge employed in every step
seemed directly related to maintaining accuracy and purity of the samples, that is
basic lab techniques, as reflected by the observations of the first lab technician.
At this point we had 20 samples for every patient tested. The plastic vials had
gotten so small there is nothing left visible or even imaginable to the naked eye.
    At this point the extracted, purified, determined, amplified, re-purified DNA
is loaded on the agarose gel and “data voltaggio” (literally: given voltage). This is
where the physical entity of the DNA falls away and is transformed into digital
data. The electrogram exploits what we know about charges in molecules to
move and order them for measurement and visualization. As in all of the previous
processes, chemical or electrical manipulation of the DNA is a means to an end,
an essential part of the process, yet not essentially part of the bio-data itself.
These manipulations of DNA have the aim of rendering DNA visible, palpable
and useful. The assumption is that the essential material of DNA, what it needs
to communicate to us, is not changed in any way by these processes, but rather,
exposed and emphasized. The genetic data does not seem to acquire special
status in the lab practice, yet requires many special instruments adapted to fit the
specific purpose.
    The final result of these chemical electrical manipulations is the series of
letters we have come to associate with nucleotide sequences, or genetic patterns.
Two technicians spend the rest of the afternoon reading the sequences to each
other, first to identify possible contamination or mistakes, then to compare the
sequences to “normal” sequences, and already established variant sequences that
are associated with certain syndromes. The technicians who read the
electropherogram are not just well trained technicians capable of recognizing
errors in a long string of letters, they are also well trained in genetic theory.
    It is only in this last step that the technicians begin to express opinions about
the relevance of the genetic bio-data. In fact, these last two technicians have more
direct interaction with the DSD team, and potentially the patients. They are the
first to tell you that a genetic marker indicates a spectrum of development
possibility, not necessarily a problematic pathology. The meaning they give to the
test results is primarily empirical: the digital data says these are the genetic
markers present in this part of the DNA. Underlying this meaning is the belief
that this digital data will help the medical team treat the patient by giving a more
accurate diagnosis.
20 CROCETTI



      However, contextually to their hospital team, they give another meaning to
   the bio-data. Critical of past paternalistic protocols that hid diagnosis and
   treatment options (including non-surgical options) from the patients (and often
   their parents too), they read the bio-data as an empirical entity that empowers the
   patient. They see the genetic test as inherently linked to new protocols of
   informed consent and full-disclosure, no longer something to be ashamed of and
   hide. The bio-data is situated as symbolically more modern, technologically
   advanced, and thereby associated with more modern standards of patient care.
   The bio-data they provide is linked to a body of scientific literature (easily found
   on the internet by the patient or family) that avoids stigmatizing terms like
   pseudo-hermaphrodite, assumes full disclosure to the patient, and contextualizes
   genetic variance.
      The experimental process, and the creation of biodata, is definitely
   mechanistic and reductionist. It certainly could seem to reflect a biologically
   deterministic model. And yet, the genetic maker simply indicates a diagnosis, and
   therefore a pathology (a statistical deviance from the norm), but not necessarily a
   disease (a disturbance in the organism that incurs dysfunction and/or suffering)
   or a problem (Billings, Rothstein and Lippman 1992). The difference lies in the
   interpretation of the genetic material.


   7. From data to meaning
       The communication of genetic test results relays meaning onto the digital
   rendering of the DNA. As we saw in the beginning of the article, the scientific
   debate regarding genetic testing reflects the interpretation of genetic material as
   either independent/mechanistic or system-dependent. The social debates further
   question the role of biological variation in disease and identity definition. In the
   last ten years the new figure of the genetic councilor has been instituted to
   explain genetic data to the patient. The genetic councilor often translates
   seemingly determinist digital genetic bio-data into the language of genetic
   probability and possibility.
       This particular DSD team does not have a referring genetic councilor. The
   genetic test results are communicated by a physician, generally a pediatric
   endocrinologist. The lab’s head geneticist told me that many parents (and adult
   patients) end up calling her directly to ask for further information and
   explanation of the genetic data, yet she does not have an official role in diagnosis
   communication. The geneticist implied that the other doctors (not trained in
   genetic testing) are more likely to portray the genetic results as deterministic
   (neo-mendelian, one gene=one trait) biological truths, leading the patient to
   believe certain dysfunctional symptoms will definitely manifest. There is a distinct
   difference between reading genetic variance as linked to physical difference, and
   interpreting that difference as inherently dysfunctional.
       This geneticist’s personal opinion is confirmed by research on termination
   rates in Klinefelter’s syndrome diagnosis. Klinefelter’s syndrome is a DSD
                                                                  TECNOSCIENZA – 3 (1)          21



syndrome that is silently targeted in prenatal cytogenetic testing, evidenced by a
third sex chromosome (XXY). Termination rates were found to be much higher,
in three different geographic and cultural settings, when the diagnosis was
communicated by a gynocologist, pedatrician or general practitioner, than when
the communication was conducted by a genetic councilor (Abramsky et al. 2001;
Hall et al. 2001; Hamamy and Dahoun 2003; Yon-Ju et al. 2002). These authors
explain their findings by proposing that a genetic counselor is more likely to
explain genetic indicators as representing a varied spectrum of development than
non-specialists, as well as having more updated information about genetically-
linked syndromes. As genetic testing has found its way into increasing disciplines,
an increased percentage of “invisible” (not particularly symptomatic) Klinefelter
cases have been revealed. Genetic councilors accuse non-specialist practitioners
of promoting not only a deterministic model, but also a model that over-
pathologizes genetic variance. The Italian Klinefelter’s patient group (KIO)
promotes genetic research because they feel it will show how common and
diverse the syndrome is.
    There can be an understanding gap between popular conceptions of neo-
mendelian genetics, and molecular genetics that relies to some extent on the
developmental model. The geneticist must explain two factors that have emerged
in molecular genetics, the complex model of development that goes beyond the
chromosomes, and the difference between a genetically-based syndrome and
being un-well. Molecular genetics represents the genomic paradigm, in which the
performance of the genes and their interaction with non-genetic factors are the
objects of research. The genomic concept has difficulty mapping directly onto
the dualistic social model of gender. This philosophical issue regarding the de-
moralization of biological variance18 can be instrumental in helping patients
understand and accept a previously unheard of difference.
    The practical work of the genetics lab plays out in various ways: diagnosis
communication (in this lab), statistical evidence of development and molecular
markers, implications for postponing early irreversible interventions. Molecular
testing is generally performed after birth, thereby the bioethical debates such as
fear of eugenic elimination practices can be limited to chromosomal prenatal
diagnosis and not molecular genetic testing as of yet. The geneticist of the lab
said, “Parents call me asking, ‘they’ve found this genetic marker, what does it
really mean?’”. Genetic counselors are appearing in certain medical fields (such
as the cancer ward of this hospital) but ironically not always in this sensitive
arena where adults/parents must make decisions for children/patients.
    The other implication of molecular testing for this lab is gender assignment,
the focus of so much of DSD medicalization. Molecular testing provides much
greater accuracy in diagnosis, even though even the geneticist indicated that
many people diagnosed with DSD do not have any of the established genetic

18
  See Feder in Morland 2009, pp. 225-247 for a historical/philosophical description of the
evolution of the morality of physical variance from the eighteenth century in regards to DSD,
but also Foucault 1979, pp. 177-184.
22 CROCETTI



   markers. However when the genetic marker is present, it will distinguish the
   diagnosis from the once catchall category of PAIS (Partial Androgen Insensitivity
   Syndrome). Historian and biologist Ingrid Holme (2007, p. 2) wonders:

      Yet as the historical analysis of the shift between the one sex to two sex model
   indicates (Laqueur 1990), it remains to be seen whether the social sphere will respond by
   incorporating this new evidence into the tacit, everyday understandings of sex or seek to
   maintain the binary and fixed relationship(s) between men and women by governing
   them as males and females.

       In a previously mentioned case, molecular testing revealed a 5-alpha reductase
   genetic marker, changing the original PAIS diagnosis. This case, among others,
   gave weight to the members of the DSD team who opposes irreversible early
   childhood genital surgery. In this case the parents’ dis-ease (Kleinman 1986) with
   their child’s non-standard body was medicalized through counseling and
   hormones instead of irreversible surgical manipulation. The belief in Western
   biomedicine that 5-alpha reductase indicates a male gender identity directly
   shifted care protocol in two key manners: the proposed acceptance of a boy child
   with a micro-phallus, and the advice to postpone surgical intervention until the
   patient is self-determining. The locus of gender identity was to some extent
   defined by the molecular genetic marker.
       Vernon Rosario (2009) hypothesizes that the complexity of genetic expression
   promoted by molecular research will lead to an equally complex model of sex
   and gender that he calls quantum sex. However, historian Garland Allen (2002)
   references his own difficulty in relaying a non-mechanistic or non-deterministic
   model of genetics in teaching upper-division college students. The one gene=one
   trait model is inaccurate, but easier to understand. The professional use of
   genetic counselors may help in the diffusion of a non-deterministic model.
       In fact, even experts sometimes express opinions that reflect the influence of
   appearance, behavior and phenotype on what they think about a patient’s genetic
   make-up. I heard contradictory comments in some cases, for instance, in the case
   of an XY adult, one technician commented, “poor thing she thinks she’s a
   lesbian, but really she’s a man”. The patient had an uncontested female identity
   throughout her life, combined with female sexual object choice. This same
   technician firmly believes that XY individuals with Androgen Insensitivity
   Syndrome are women. Yet, the patient in question had a mixed molecular
   marker similar to 5-alpha redutase that is associated with potential male gender
   identity in the western bio-medical context. This technician will insist that XY
   chromosomes do not make you a man, yet sometimes a molecular marker is taken
   to indicate the same authority that chromosomes once did in gender
   determination.
       Despite occasional opinions that could be perceived as deterministic, the
   geneticists generally advocate for a complex, developmental model. This genomic
   model generally refutes the deterministic language of the ‘gene for x social trait’,
   but rather, as Fox-Keller (2000) suggests, views genes as processes. The lab
                                                                 TECNOSCIENZA – 3 (1)         23



technicians, in fact, seem to interpret their digital data as part of a complex
process, while outside of the lab this data is somehow flattened to represent
something in-and-of-itself. New genomic research continues to affirm an
increasingly inter-relational model of sex development. As Holme (2007, p. 171)
indicates:

   The view of the body as an active process is widespread in the discussions of the
paradigm shift from studying single genes in genetics to studying genetic networks in
genomics (Moss 2003).

   In the hospital laboratory individual genes are targeted for very practical
reasons in order to promote more accurate diagnosis.


8. Conclusion
   Visual representations in science differ significantly in terms of how they relate to
what they purport to represent (i.e. their representational and ontological status). Visual
representations in science may refer to objects that are believed to have some kind of
material or physical existence, but equally may refer to a purely mental, conceptual,
abstract constructs and/or immaterial entities. (Pauwels 2005)

   The visualization of hidden biological components is part and parcel of DSD
diagnosis. Technology has helped shift the locus of biological sex to parts of the
body that would otherwise remain unknown, invisible. The visualization
processes that convert blood samples to electropherograms and genetic digital
data are standardized procedures that invoke a myriad of scientific theories and
techniques, as well as the social metaphors that DNA represents. By taking a
walk through the actual practice of genetic testing we can see that the
commitment to the deterministic model implied by the practice is ambiguous.
The laboratory practice relies on the assumed predictability of chemical
interactions, aided by heat, speed, light and electricity.
   By digitally visualizing DNA we are manipulating its material support, as well
as its potential and its meaning. The DNA mystique, the positivistic rhetoric
surrounding DNA and its cultural symbolic value has induced the need to
visualize DNA in ever-increasing settings (Lippman 1992). In this manner, it
seems the increased practice of genetic testing relies to some extent on
deterministic assumptions such as the special status of DNA and genetics in
describing the body. However, geneticists indicate that they see this information
as only one part of the puzzle.
   The practice of genetic testing treats genetic material as a physical chemical
entity, which can be manipulated in many ways, without losing its informational
value. In fact, it must be chemically and thermically manipulated in order to
reveal itself. This would superficially imply that genes are believed to be
resistance to external influences, however, the laboratory manipulations hopes to
24 CROCETTI



   “clean away” interfering biological information. Genes are initially read
   atomistically, separate from the organismic context, then inserted into a systemic
   explanatory model. The explanatory model of the molecular laboratory proposes
   that genes are partially deterministic, in that genes determine part of
   development in interaction with other biological processes. However, the
   primary purpose of the genetic lab is to confirm a diagnosis, not explain
   developmental processes. The genetic information has the explanatory power to
   support or negate a suspected diagnosis, such as Klinefelter’s syndrome or 5-
   alpha reductase, but does not indicate how the syndrome will manifest. The
   increased diagnosis of these genetically linked syndromes lends statistical
   evidence to the variety of manifestations of these syndromes.
       I would argue that the molecular genetic labs practices reflect the belief that
   genes have an important biological potential. That is, in certain biological
   conditions, the genetic marker will lead the body to develop in a divergent
   direction, and therefore it is important in the medical context to identify suspect
   markers to anticipate what might happen in the body. There is no strong
   deterministic paradigm in the lab that indicates that the genetic marker creates
   individual identity or an un-well individual. The lab tends to adopt the
   potentially un-well model, indicating that a patient has a genetic marker or a
   syndrome as opposed to being genetically diseased. This would indicate that the
   strong deterministic interpretation of genetic material is created in social
   discourse and other scientific discourse, not in the lab.
       Historians and philosophers such as Lindee (2005) and Moss (2003) highlight
   the divergence of the scientific practice and social discourse. They indicate the
   myriad of things that genetics and genetic medicine cannot do or describe yet,
   from creating cures to biologically describing behavioral traits. Lindee in
   particular indicates that the actual science is far behind the positivistic rhetoric
   surrounding genetics, while indicating that patients themselves sometimes create
   these expectations.
       As long as the “genetic mystique” reigns in the public image, accompanied by
   the neo-mendelian deterministic model, genetic testing can be a potential eugenic
   threat, as well as a tool to stigmatize biological difference as “not right”.
   However, this interpretation is influenced by how genetic information is
   described to patients, and how patients interpret this information. The
   deterministic platform is not entirely reflected in laboratory practice. As genetic
   testing becomes routine in an ever increasing number of medical fields, time will
   show us if the strong deterministic model continues to dominate the public image
   of DNA and genetics, or if perhaps genes will slowly lose their special status,
   becoming a biological marker among many.
                                                          TECNOSCIENZA – 3 (1)      25



References
Abramsky, L., Hall, S., Levitan, J. and Marteau, T.M. (2001) What parents are
    told after prenatal diagnosis of a sex chromosome abnormality: interview and
    questionnaire study, in “British Medical Journal”, 322, pp. 463-466.
Allen, G. (2002) The Classical Gene: Its Nature and Its Legacy, in R.A. Ankeny
    and L.S. Parker (eds), Mutating Concepts, Evolving Disciplines: Genetics,
    Medicine, and Society, Boston, Kluwer Academic Publishers, pp. 11-43.
Ankeny, R.A., Parker, L.S. (eds) (2002) Mutating Concepts, Evolving Disciplines:
    Genetics, Medicine, and Society, Boston, Kluwer Academic Publishers.
Billings, P., Rothstein, M.A. and Lippman, A. (1992) But is he genetically
    diseased?, in “The Hastings Center Report” 22 (4), pp. S18-20.
Clarke A. and Fujimura J. (eds) (1992) The Right Tools for the Job: At Work in
    Twentieth-Century Life Science, Princeton, NJ, Princeton University Press.
Clarke, A. (2005) Situational Analysis, London, Sage Publications.
Clarke, A., Mamo L., Fosket J.R. and Fishman J.R. (eds) (2010) Biome–
    dicalization: Technoscience, Health, and Illness in the U.S, Durham-London:
    Duke University Press Books.
Clayton, E.W. (2003) Ethical, legal, and social implications of genomic medicine,
    in “New England Journal of Medicine”, 349 (6), pp. 562-569.
Comitato Nazionale per la Bioetica (2010), I disturbi della differenziazione
    sessuale nei minori: aspetti bioetici, in www.governo.it/bioetica–
    /pareri_abstract/testo_20100225.pdf
Dreger, A.D. (1998) “Ambiguous Sex” or Ambivalent Medicine?, in “The
    Hastings Center Report” May/June, 28 (3), pp. 24-35.
Dreger, A.D. (1999) Intersex in the Age of Ethics, Maryland, University
    Publishing Group.
Dupré, J. (2004) Understanding Contemporary Genomics, in “Perspectives on
    Science”, 12 (3), pp. 320-338
Ettore, E. (2002) Reproductive Genetics, Gender, and the Body, London,
    Routledge.
Fausto-Sterling, A. (2000) Sexing the Body, New York, Basic Books.
Foucault, M. (1975) Surveiller et punir. Naissance de la prison, Paris, Gallimard
    (Eng. Transl. Discipline and Punish: The Birth of the Prison, New York,
    Vintage, 1975)
Fox-Keller, E. (2000) The Century of the Gene, Cambridge, MAss, Harvard
    University Press.
Goodman, A., Heath, D. and Lindee, S. (2003) Genetic Nature/Culture,
    Anthropology and Science Beyond the Two-Culture Divide, Berkeley, CA,
    University of California Press.
Hall, S., Marteau, T.M., Limbert, C., Reid, M., Feijóo, M., Soares, M., Nippert,
    I., Bobrow, M., Cameron, A., Van Diem, M., Verschuuren-Bemelmans, C.,
    Eiben, B., García-Miñaur, S., Walkinshaw, S., Soothill, P., De Vigan, C.,
    McIntosh, K. and Kirwan, D. (2001) Counselling following the prenatal
    diagnosis of Klinefelter syndrome: comparisons between geneticists and
26 CROCETTI



      obstetricians in five European countries, in “Community Genetics”, 4, pp. 233-
      238.
   Hamamy, H.A. and Dahoun S. (2003) Parental decisions following the prenatal
      diagnosis of sex chromosome abnormalities, in “European journal of obstetrics,
      gynecology, and reproductive biology”, 116 (1), pp. 58-62.
   Hendricks, M. (1993) Is it a boy or a girl?, in “John Hopkins Magazine”, 45 (6),
      pp. 10-16.
   Herdt, G. (1996) Third Sex, Third Gender: Beyond Sexual Dimorphism in Culture
      and History, New York, Zone Books.
   Holme, I. (2007) Genetic Sex: A Symbolic Struggle Against Reality? Exploring
      Genetic and Genomic Knowledge in Sex Discourses, Doctoral Dissertation,
      University of Exeter.
   Jablonka, E. and Lamb, M. (2005) Evolution in Four Dimensions, Cambridge,
      Mass., The MIT Press.
   Karkazis, K. (2008) Fixing Sex: Intersex, Medical Authority, and Lived Experience,
      Durham, Duke University University Press.
   Kleinman, A. (1986) Interpreting illness meanings, in “Medical Encounter”, 3 (3),
      pp. 5-7.
   Kuhn, T. (1962) The Structure of Scientific Revolutions, Chicago, University of
      Chicago Press.
   Latour, B. and Woolgar S. (1979) Laboratory Life: The Social Construction of
      Scientific Facts, Beverly Hills, Sage.
   Latour, B. (1987) Science in Action. How to Follow Scientists and Engineers
      Through Society, Milton Keynes, Open University Press.
   Latour, B. (2005) Reassembling the Social: An Introduction to Actor-Network-
      Theory, Oxford, Oxford University Press.
   Laqueur, T. (1990) Making Sex: Body and Gender from the Greeks to Freud.
      Cambridge, MAss, Harvard University Press.
   Lindee S. and Nelkin D. (2004) The DNA Mystique: The Gene as a Cultural Icon.
      Ann Arbor, Michigan University Press.
   Lindee, S. (2005) Moments of Truth in Genetic Medicine, Baltimore, John
      Hopkins University Press.
   Lippman A. (1992) Prenatal genetic testing and genetic screening: constructing
      needs and reinforcing inequalities, in “American Journal of Law and
      Medicine”, 17, pp. 15-50.
   Lock, M., Young, A. and Cambrosio, A. (2000) Living and Working with the
      New Medical Technologies. Intersections of Inquiry, Cambridge, Cambridge
      University Press.
   Lock, M. (2005) Eclipse of the Gene and the Return of Divination, in “Current
      Anthropology”, 46 (S5), pp. S47-S70.
   Morgan, T. H. (1935) The relation of genetics to physiology and medicine (Nobel
      Lecture), in “Scientific Monthly”, 41, pp. 5-18.
   Morland, I. (eds) (2009), Intersex and After, in “GLQ”, 15 (2).
   Moss, L. (2003) What Genes Can't Do, Cambridge, Mass, The MIT Press.
                                                                TECNOSCIENZA – 3 (1)   27



O’Malley M.A. and Dupre, J. (2005) Fundamental issues in systems biology, in
   “Bioessays”, 27, pp. 1270-1276.
Pauwels, L. (2005) Visual cultures of science: rethinking representational practices
   in knowledge building and science communication, Dartmouth, Dartmouth
   College Press.
Portin, P. (1993) The Concept Of The Gene: Short History And Present Status, in
   “Quarterly Review of Biology”, 68, pp. 173-174.
Rapp, R. (2000) Testing Women, Testing the Fetus, The Social Impact of
   Amniocentesis in America, New York, Routledge.
Rechter, J.E. (1997) The Glands of Destiny: A History of Popular, Medical and
   Scientific Views of the Sex Hormones in 1920s America, PhD Dissertation,
   University of California at Berkeley.
Rosario, V. (2009) Quantum Sex: Intersex and the Molecular Deconstruction of
   Sex, in I. Morland (es.), “GLQ Intersex and After”, 15 (2), pp. 267-284.
Rose, N. and Nova, C. (2000) Genetic risk and the birth of the somatic individual,
   in “Economy and society”, 29 (4), pp. 485-513.
Rose, N. (2006) The Politics of Life Itself, Princeton, Princeton University Press.
Shakespeare, T. (2005) Disability, Genetics and Global Justice, in “Social Policy
   and Society”, 4 (1), pp. 87-95.
Taussig K-S., Rapp, R. and Heath, D. (2003) Flexible Eugenics: Technologies of
   the Self in the Age of Genetics, in A. Goodman, D. Heath and S. Lindee (eds)
   Genetic Nature/Culture: Anthropology and Culture Beyond the Two Culture
   Divide, Berkeley, University of California, pp. 58-76.
Theunissen, B. (2008) Breeding Without Mendelism: Theory and Practice of Dairy
   Cattle Breeding in the Netherlands 1900–1950, in “Journal of The History of
   Biology”, 41, pp. 637-676.
Turrini, M. (2011) Se Vedo solo il Bianco e il Nero, non Vedo le Sfumature: Stili
   Visuali e Incertezza nei Laboratori Clinici di Citogenetica, in “Etnografia e
   Ricerca Qualitativa”, 4(1), 39-60.
Yon-Ju, K., So-Yeon, P., Jung-Yeol, H., Moon-Young, K., Jae-Hyug, Y., Kyu-
   Hong, C., Young-Mi, K., Jin-Mee, K. and Hyun-Mee, R. (2002) Parental
   Decisions of Prenatally Detected Sex Chromosome Abnormality, in “Journal of
   Korean Medical Science”, 17, pp. 53-7.




    Daniela Crocetti, Università di Bologna
    CIS (The International Centre for the History of Universities and Science)
    Dipartimento di Filosofia - Università di Bologna
    via Zamboni 38 - 40126 Bologna, Italy
    Email: terzogenere@yahoo.com
28 CROCETTI
