Human genomics/Introduction

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Introduction

Kate O'Riordan


This Living Book provides a very partial cut through human genomics as both a scientific field and a consumer interface. The introduction has four sections -- New Genetics, Maps of Life, Bioinformatics, Individual Genomes -- each containing a selection of science articles as well as material from cultural studies of science and technology.

New Genetics: Scientific Pictures and Ordinary Heroes

Genomics goes further back than the 1950s -- when it experienced a moment of triumph as a result of the discovery of DNA structure (feted as ‘the cracking of the secret of life’). A usual starting point for studies of the history of genomics is Mendel and the peas. Nazi science and eugenics are also obligatory passing points on the journey. These latter references are perhaps the most commonplace in cultural discussions of genomics. Genetic horror stories populate film and novels. Indeed, genomics has been extensively framed in these terms in the arts and social sciences -- we can think here of Troy Duster’s Backdoor to Eugenics (1990) or Susan Currell and Christina Cogdell’s edited collection, Popular Eugenics (2006). This framing also accounts for the scale of the bioethics industry, or Ethical, Legal and Social Implications (ELSI) projects that have accompanied genomics in the late 20th and early 21st centuries. An impressive array of bioethical and social science research has attempted, in different ways and for different reasons, to also understand what is going in genomics. The funding that has driven genomic research in the sciences, in both private and public institutions, has also generated this ELSI dimension.

However, this introduction starts with the intense visibility of the new genetics of the 1950s. In the mid-twentieth century James Watson and Francis Crick, together with less publicised colleagues, were celebrated as the heroes of the new genetics. Genetics became ‘new’ through the visual image of the double helix and these heroes of science. Despite the background of Nazi science and hopes and fears associated with social breeding programmes, the double helix became one of the biggest icons of the 20th century (Van Djick 1998; Nelkin & Lindee; 1995, Roof 2007). In the making of the new genetics two very visible characteristics of the story are the icon of DNA itself and the figures of the scientists involved in its emergence.

James Watson, Francis Crick and Maurice Wilkins received the 1962 Nobel Prize for their work on the structure of DNA in the previous decade. They built on the work of other colleagues and leaned particularly heavily on the images of DNA produced by Rosalind Franklin. However, Watson and Crick emerged in both science history and popular culture as the figures of the new genetics. Watson published his science memoir, The Double Helix: A Personal Account of the Discovery of the Structure of DNA (1968), which was made into a television drama by BBC’s Horizon team as Life Story in 1987. The new genetics thus instituted an icon at its centre and popularised new ways of narrating the life of a scientist. In this way, ordinary heroes emerged as the trope of the new genetics. Maureen McNeil sums up the dimensions of this visibility in her argument that Watson’s autobiographical account ‘made modern science (and male scientists) sexy by exposing, celebrating and policing its modern heterosexist character’, as well as dramatising the double helix and this story of DNA (48: 2010).

The figure of the modern, sexy and heterosexist scientist of genomics has been influential in making genomics an accessible and attractive area for both academic research and popular culture. The later figures of John Sulston, Craig Venter and George Church continue this legacy in different ways today. The autobiographical account of the ordinary hero and the opening of access to genomics as visual information continue to go hand in hand. The pairing of these two discursive forms, autobiography and genomic information, has intensified with the rise of current interest in personal genomics (O’Riordan, 2011).

Maps of Life: Catalogues, Mapping and Sequencing

In the 1960s and 1970s interest in cataloguing and mapping information about genomics came to the fore (Haraway, 1997). Such interest culminated in the Human Genome Project, but it had much earlier precursors -- especially in medical genetics. In 1966, Dr Victor McKusick started publishing the print catalogue, Mendelian Inheritance in Man (MIM), which aimed to construct knowledge by documenting all the known Mendelian traits and disorders. This was an ongoing and continually updated project, which later became Online Mendelian Inheritance in Man (OMIM), and is still under development today.

However, it was not so much the cataloguing of disorders but rather the mapping of the whole genome that became the central project of genetics. And it was the fifteen-year international big science endeavour of the Human Genome Project that transformed genetics into genomics. Begun in the early 1980s and completed in 2003, the project pursued whole genome sequencing. It saw the fast development of computational sequencing power over the following two decades. Craig Venter notes in his autobiographical account that the success of this project was indeed dependent on access to developments in computational power and sequencing technologies (Venter, 2007).

Bioinformatics

Computational methods for mapping out the location of DNA on the chromosomes and the use of markers to identify differences between people proliferated in this period. The use of computing in these processes had intensified in the 1970s, while forms of computational biology were central to the concept of the Human Genome Project. These intensities ranged from the work of biochemist Fred Sanger (after whom the UK’s Sanger Centre is named), to the mapping workshops of the 1970s (e.g. New Haven, 1973), to the 1980 (Botstein et al.) proposal that the genome could be mapped via polymorphisms. By 1985 Robert Sinsheimer at UCSC had helped to put genome sequencing on the table. This, together with the development of the PCR technique -- which facilitates sequencing by allowing the production of substantial amount of DNA -- provided many of the building blocks for the Human Genome Project.1

The Human Genome Project was an effort to sequence the human genome and to make the obtained information widely available. It produced the human reference genome, a single map of the human genome -- although the actual map is derived from more than one person. This project and the quantities of data generated via genome sequencing shifted human genomics from the biochemistry attachments of PCR to the bioinformatics paradigm of sequencing, and to the current project of next-generation sequencing. The UK Wellcome Trust website, the USA’s National Institutes of Health (NIH) and Department of Energy, and Cook-Degan’s (1994) accounts are rich sources of information about this project -- which was dominated by the USA and UK, despite significant input from other European countries and China.

Individual Genomes: Biodigital Artefacts


The Human Genome Project was an attempt to make the first genome sequence of the whole organism visible and thus to provide a human reference genome. However, this reference is also a starting point for understanding variation between populations, diseases and people. The Human Haplotype Map was another large-scale genomics project that attempted to develop this direction by looking at variation between populations. This project and others attached to population genomics have gained fairly high level and popular visibility through National Geographic’s Genographic project, and through television and book series about population genomics research, such as The Face of Britain and African American Lives in the USA. The claim for the Haplotype map in a publication by the Haplotype Map Consortium was that: ‘The International HapMap Project has been instrumental in making well-powered, large-scale, genome-wide association studies a reality. It is now clear that the HapMap can be a useful resource for the design and analysis of disease association studies in populations across the world’ (Haplotype Map Consortium, 2007). A different direction in human genomics and one that owes more to the sequencing technologies of the Human Genome Project, rather than to the genome wide association studies (GWAS) of the Haplotype map, is that of personal or individual genomics. Key figures in this area are still the heroic scientists: this time, George Church and Craig Venter are the leading lights. They have both sequenced their own genome and made the sequence information publicly available. Venter and Church have both been practitioners of a bioinformatics paradigm, in which genomic sequence data is the building block.

Next generation sequencing is set to promise faster and more standardised versions of sequencing that (as well as promising speed) may be more thorough and easier to reassemble. One end-goal in all of this is to make full human sequencing as normal, cheap and instant a diagnostic step as taking body temperature. At the moment there has been very little use of genome sequencing in clinical contexts. Whole genome sequencing, despite the promises of next generation sequencing, is problematic to use clinically. A huge amount of data is generated in the process, while the task of interpretation is highly specialised and under-developed. Examining the sequence data from a human genome is enormously resource- intensive and the conclusions that can be drawn from this kind of source are variable.

Alongside the very research-intensive end of this field, represented by the Personal Genome Project (PGP) run by George Church, there also exists a consumer end that has seen some take up. Currently there is a much cheaper and less resource-intensive end of full sequencing; namely -- consumer genome scanning. This kind of service is supplied direct to consumers by the likes of 23andMe (USA), Lumigenix (Australia), DeCodeMe (Iceland) in the genome scanning field. The field also includes, and has a longer history in, ancestry and genealogy tests.

The same elements that made up the Human Genome Project remain the basic elements of human genomics today -- such as mapping DNA to locations on the chromosomes, comparing markers, and producing genome sequences. However, the scale, language and tools of bioinformatics have largely overtaken other ways of understanding genomics. Genome sequence information is being generated at an exponential rate. The challenges in this area are principally related to ways of managing and interpreting such information. What this bioinformatic paradigm can obscure is the materiality of genomics or the fact that people and their tissue samples are the core materials of this process.

The biodigital materiality of genomics in the 21st century is a very different object to the hypothetical gene of the 1940s and 1950s. Genetics and genomics reside in the markers, sequences and databases of genomic information in circulation. Raw data generated by genome companies circulates through the web and browser tools for analysing genomic sequence information are available (e.g. Interpretome). The biodigital materiality of genomics mixes up people, databases and browsers in new ways, creating new challenges for the interpretation, regulation and meaning of biomedical research, bioinformatics, digital culture, labour and identity.

Consumer genomics brings with it a normalization of the idea of uploading biomaterials into a media ecology and for the future expansion of biometric possibilities. This biodigital dimension of media opens new possibilities for both individual identity and institutional structures. Paying attention before uploading blood and tissue seems wise in this context. In consumer genomics social media have been used to increase the visibility of the field by involving consumers in it. The latter thus contribute to the generation of genomic data and extend the reach of its influence. At the same time, social media are also a platform where debate about, and critique of, human genomics have flourished. This is a consequence of a convergence in which media sell science but at the same time create new publics of science. Critique and consumption run therefore in the same media channel.

Currently thousands of people have been incorporated into projects that involve making genomics meaningful, speeding up research and development, and generating genomic information. The genome has also been incorporated into everyday life through clinical and media interfaces. Genome scanning at present has not much to offer in medical and health terms, but it has quite a lot to offer in terms of technoscientific cultural and social capital -- and is hence most valuable to those with an investment in either genomics or digital culture.

Notes

1 See Rabinow, The Making of PCR (1996), and for a discussion of the politics of the Human Genome Project, Cook-Degan, The Gene Wars (1994)

References

Botstein D., White R.L., Skolnick M. & Davis R.W. (1980) ‘Construction of a genetic linkage map in man using restriction fragment length polymorphisms.’ American Journal of Human Genetics 32: 314-31.

Cook-Degan, R. T. (1994) The Gene Wars: Science, Politics, and the Human Genome. New York: Norton. http://www.genome.duke.edu/books/gene-wars/

Currell, S. & Cogdell, C. (eds) (2006) Popular Eugenics: National Efficiency and American Mass Culture in the 1930s. Athens: Ohio University Press.

Duster, T. (1990) Backdoor to Eugenics, Popular Eugenics. New York and London: Routledge.

Haraway, D. (1997) Modest Witness. London and New York: Routledge.

M’Chareck, A. (2005) The Human Genome Diversity Project: An Ethnography of Scientific Practice. Cambridge: Cambridge University Press.

McNeil, M. (2011)Feminist Cultural Studies of Science and Technology. London: Routledge.

Nelkin, D. & Lindee, S. (1996) The DNA Mystique: The Gene as Cultural Icon. New York: W.H. Freeman and Company.

O’Riordan, K. (2010) The Genome Incorporated. London: Ashgate.

Rabinow, P. (1996) The Making of PCR: A Story of A Biotechnology. Chicago: University of Chicago Press.

Reardon, J. (2004) Race to the Finish. Princeton: Princeton University Press.

Roof, J. (2007) The Poetics of DNA. Minneapolis: Minnesota University Press.

Van Dijck J. (1998) Imagenation: Popular Images of Genetics. New York: New York University Press.

Venter, C. (2007) A Life Decoded: My Genome, My Life. London: Viking.

Watson, J. (1968) The Double Helix: A Personal Account of the Discovery of the Structure of DNA. London: Atheneum.

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