De-Sequencing

Identity Work with Genes

Dana Mahr,Martina von Arx

• Publisher: Palgrave Macmillan
• Year: 2020
• ISBN:
  9789811577284
• Topic: Sciences sociales
• Subtopic: Sociologie

Are you your genes? De-Sequencing: Identity Work with Genes explores this perplexing question, showing how different forms of knowledge must be contextualized to become meaningful. It is generally assumed that the genomic sequence adds up to the identity-forming material life is made of. Yet identity cannot itself adopt the form of a sequence. As the authors in this volume show, the genome must be 'de-sequenced' by human language to render it interpretable and meaningful in a social context. The book unpacks this type of 'sequence-speech' in engaging detail, adopting a personal, social, cultural, and bio-political approach to examine the transformation of human identity and reflexivity in the era of genetic citizenship.

© The Author(s) 2020

D. Mahr, M. von Arx (eds.)De-SequencingHealth, Technology and Societyhttps://doi.org/10.1007/978-981-15-7728-4_1

Begin Abstract

1. Introduction

Dana Mahr¹ , Christoph Rehmann-Sutter² and Martina von Arx¹

(1)

Section de Biologie, University of Geneva, Genève, Switzerland

(2)

Institut für Medizingeschichte und Wissenschaftsforschung, Universität zu Lübeck, Lübeck, Germany

Dana Mahr (Corresponding author)

Email: [email protected]

Christoph Rehmann-Sutter

Email: [email protected]

Martina von Arx

Email: [email protected]

End Abstract

At some point after the completion of the Human Genome Project, when one version of the human DNA sequence had been established, an interesting neologism emerged both in scientific discourse and colloquial language: ‘to sequence’ a species, a population, a person. Rice has been sequenced, tomatoes, silkworms, and people living in Iceland. It was clear to us all that the process of sequencing referred to the genome, not to the species, to the population, or to the person. To sequence somebody, has always been an abbreviation, an economy of words—or perhaps a slip of the tongue. This book starts from the premise that genetic information contributes in many ways to the construction of identity. The genomic sequence adds up to the identity-forming material from which life is made. Having a closer look at how genetic information is used in conversation will help us to understand its contribution to identity work. Identity cannot adopt the form of a sequence, therefore the genome must be de-sequenced by human language to render it interpretable and meaningful in a social context.

The following examples show how the verb ‘to sequence’ is used, as it would be intelligible to all: Yang Huanming, founder of the Beijing Genomics Institute, one of the world’s leading sequencing institutes, declared in the documentary ‘DNA Dreams’:

We have initiated the sequencing of 250 small families with parents and one child. We have [also] initiated the sequencing of 5000 twins. (van der Haak 2013)

Amy Dockser Marcus wrote, in an article in The Wall Street Journal entitled ‘Genetic Testing Leaves More Patients Living in Limbo’:

The expanding use of genetic testing is having an unforeseen consequence: More people are being told they have genes for potentially fatal diseases but don’t show any symptoms. As more humans are sequenced and more mutations are [found] … in healthy people who don’t have what the mutation is supposed to predict [fear is growing]. (Marcus 2013)

The popular science blogger and educational influencer Caydunbar, also an organic chemist at Colorado State University, wrote:

When people learn that I have been sequenced as part of George Church’s Personal Genome Project (PGP) they often say, ‘Wow – I’d like to be sequenced too!’ My first response to them is, ‘Why – are you sick?’ (Cayundbar 2013)

John Lauerman, a Bloomberg journalist who had his DNA sequenced, recalls the events in similar words:

Before I was sequenced, I didn’t know I had this clotting disorder. Now I do, and since I began taking baby aspirin, I haven’t had a single scotoma. I could be saving myself from all kinds of serious potential illnesses, maybe a stroke or a heart attack. (Lauerman 2012)

In such statements from and about ‘sequenced people’, as readers, we automatically reintroduce the skipped ‘genome of…’ into the sentences to make them complete. But is there more to say about this shorthand? Why does this kind of sequencing language sound so familiar to many of us?

A DNA molecule can be sequenced because it consists of a linear array of four different nucleotides denoted adenine (A), thymine (T), guanine (G), and cytosine (C). Their sequence matters in roughly the same way as the sequence of letters matters for the words you are reading here. An organism, however, as a dynamic, complex, and corporeal being, cannot in any conceivable way be sequenced. How could a person be sequenced? A deeper question emerges here: How can health and disease, lives, biographies, families, and their narratives be meaningfully related to genetic sequences? There is more than just a formal incompatibility between a life and a sequence. The ambiguity of the term ‘sequence’ is of a spatial and a temporal dimension. The DNA nucleotides are aligned, but life itself is not executed in a linear form of genetic instructions picked up one after another from the genome. Life is not the temporal version of a row of genes. The difference between life and a genetic sequence is categorical.

Therefore, we need to ask how people establish such a relationship across the categorical differences when they narrate biographies while referring to their genes? What happens in our heads when the verb ‘to sequence’ is used in such a way? On which levels of biological meanings inherent in living creatures is a rice plant, a silkworm, or a human person sequenceable? And then, what kind of thinking is emerging culturally along with the burgeoning sequencing industries worldwide? In other words, into what kind of thing must species, organisms, persons, and lives be transformed, in order to become sequenceable?

Such questions are important and must be addressed carefully. Since the 1990s, much ink has been spilled in discussions about the impact of genetics and genomics on both society and our individual lives. In particular, sociologists, philosophers, researchers with feminist backgrounds, and scholars from the field of disability studies have explored the various ways in which the rise of genetic knowledge—as soon as it transcends the institutional boundaries of the biosciences—might reshape our understanding of health and illness, race and gender, moral and ethics, belonging and heritage, as well as work and recreation. The first wave of such research was dominated by scholars revisiting Michel Foucault’s writings about biopower and governmentality against the backdrop of genetics. By coining concepts such as geneticisation or redefining pre-existing terms such as biosociality or biocapital, Abby Lippmann (1991, 1999), Dorothy Nelkin and Susan M. Lindee (2004 [1994]), Sarah Gibbon and Carlos Novas (2007) and others, discussed the ongoing developments in microbiology predominantly at the macro-level of society itself. Their retrospective, and rather speculative, studies reflected a societal discourse in which the practical impact of genetics and genomics on society was (at least partly) foreseeable but not yet a ubiquitous reality. Empirical explorations of genetics and genomics in everyday life and on the level of individual sense-making therefore remained basically a desideratum.

One of the rare exceptions was Monica Konrad’s anthropological study of 2005 Narrating the New Predictive Genetics: Ethics, Ethnography, and Science (Konrad 2005). In the early 2000s, genome sequencing was still an expensive, cutting-edge technology, limited predominantly to prestigious research institutions. Then the rapid development of sequencing technologies during the 2010s, and big data technologies, made the production of genomic data not only faster but also far less expensive and therefore increasingly accessible for clinics, smaller universities, private enterprises, and ultimately also individuals. As a result, a second wave of studies focused mainly on practical ethical problems—for example, whether researchers have an obligation to report incidental additional findings of genome studies to study participants (Wolf et al. 2008; Green et al. 2013; Vayena and Tasioulas 2013; Mahr and Rehmann-Sutter 2015). In recent years, a third wave of studies has become prominent, examining individual identity and genetics from a predominantly empirical point of view. The central question of this strand of research on the micro- and meso-levels of society asks: ‘Am I my genes?’ (Klitzman 2012). It has united a wide variety of theories, methods, and disciplinary perspectives, from phenomenological and autobiographical or fictional narrative approaches (e.g. Cadwalladar 2014) to qualitative social science studies exploring the emergence of genetic identities in terms of race, ability, gender, citizenship, or consumerism (e.g. Scully 2008; Munsterhjelm 2014; Rehmann-Sutter and Mahr 2016). This third wave of social and philosophical studies on genetics and genomics tracked the different layers of meaning making from the micro-molecular entity in a laboratory up to individuals who decided to adopt a specific lifestyle after receiving their test results from a commercial genetic testing company.

This book adds to the third wave. It has a twofold purpose. On the one hand it seeks to identify and explore various transformations, translations, and meanings of genetic information from laboratories into policies, from clinics to patients, from enterprises to customers, and from graphs and statistics on computer screens to individual identities. On the other hand, it aims at taking up an opposite position to the reductionist paradigm which equates creatures with their genomic sequence. Sequencist reductionism deserves systematic and careful counteraction.

DNA sequences return to human lives in forms other than sequences. If this is true, we need to explore how this happens and who is involved in the related activities of the necessary backward translation. The path from rough genetic information to a message relevant in real life involves work. For example, if a genetic sequence reveals the origin of ancestors, the construction of one’s own identity would possibly be impacted by the result. This work of translation can be called identity work. There are many ways in which human beings create and socially co-create concepts and descriptions about themselves in reference to their environment, experiences, values, and beliefs (Snow and Anderson 1987). Expressions of identity are not limited to a state of mind but are also incorporated in patterns of behaviour, everyday practices, and are often embedded in social relations. The concept of identity work underwent various theoretical differentiations in the 2000s. W. E. Douglas Creed and Maureen A. Scully explored, for example, the performance-based elements of identity work by incorporating Erwin Goffman‘s understanding of social encounters and interactivity (Creed and Scully 2000). The study of identity work is therefore not only concerned with how individuals perform and categorise themselves, but also how they are categorised and perceived by others, both from their ‘inside group’ and from their ‘outside groups’ (Beech 2008). Simultaneously it explores the ways in which physical, symbolic, verbal, textual, and behavioural representations become imbued with meaning and are used to structure identities (Beech and Huxham 2003). The complexity and fluidity of interactions, representations and ontological levels in sense-making processes make them problematic to describe and to analyse.

Identity work, if it operates with genes, intersects with narrative, dialogical, and various other symbolical forms of representation. Its exploration needs to consider and utilise the notion that we as human beings are not entities that are contained within ourselves, but rather loose, open, disordered, and unfinalised forms. When engaging with our genetic information, we are not simply absorbing neutral knowledge about the developm...