Human Genomics

 

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Edited by Kate O'Riordan

New Genetics: Scientific Pictures and Ordinary Heroes

The genetics of the 1950s helped to signal a break from the associations that had been made between human genetics and forms of social eugenics in the late 19th century and first half of the 20th century. This period of ‘discovery’ science also lead the way in providing narratives of scientific heroes as ordinary guys (McNeil, 2011). A version of scientific discovery that still resonates today as genetic heroics were reproduced by Craig Venter and John Sulston during the Human Genome Project, in biographies, autobiographies, popular science writing, news media and documentary.

In July 25, 1953 Rosalind Franklin and Gosling detail the distinctions between the A and B structures of the double helix in DNA and Watson and Crick publish their article on the structure of DNA.

• R. Franklin and R. G. Gosling
• Evidence for 2-Chain Helix in Crystalline Structure of Sodium Deoxyribonucleate

• • J. D. Watson and F. H. C. Crick
• A Structure for Deoxyribose Nucleic Acid

Maps of Life: Catalogues, Mapping and Sequencing

a) maps

• D. Botstein, R. L. White, M. Skolnick, R. W. Davis
• Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms[1]

• Subcommittee of the 
Health and Environmental Research Advisory Committee (HERAC)
• Report on the Human Genome Initiative, Office of Health and Environmental Research, 1987

• U.S. Congress, Office of Technology Assessment
• Mapping Our Genes-The Genome Projects. How Big, How Fast? Washington, DC: U.S. Government Printing Office, April 1988

b) catalogues  

In 1966 a medical field comes together through a catalogue and Dr Victor McKusick publishes the first print edition of Mendelian Inheritance in Man (MIM). This was an attempt to catalogue what was known about Mendelian phenotypes – or the physical expression of genetic material - as medically relevant characteristics. It later became Online Mendelian Inheritance in Man (OMIM).

• Amberger, Joanna. Bocchini, Carol A. Scott, Alan F. and Hamosh, Ada. McKusick's Online Mendelian Inheritance in Man (OMIM®) Nucleic Acids Res. 2009 January; 37(Database issue): D793–D796.

c) sequencing 

In the early 1980s the technique called PCR – Polymerase Chain Reaction was developed (see Rabinow 1996 for an anthropological account). Kary Mullis won the Nobel Prize for his work in this area but his key article ‘An unusual origin of PCR’ is not freely available and only accessible via subscription. However, a far more detailed and accessible article in the Journal of Biomedical Discovery and Collaboration (Fore, Weichers and Cook-Deegan 2006) is more useful at this point and is included here.  This article examines the effect that the patent on PCR had on its use in the sciences. This is a useful piece because it provides a review of PCR in the genome sciences but also because it considers two key issues in genomics with particular relevance for the humanities. These are the related issues of commercial science and patenting. The two issues are linked but not inseparable. Commercial companies and publicly funded research institutions both take out patents on inventions or discoveries. PCR is a technique for reproducing large amounts of DNA and this facilitates sequencing. Kary Mullis’s work on this area was developed in a commercial setting. Patenting and other commercial imperatives in the life sciences are part of the everyday reality of working in this area. Genomics is a 20th century science and has been developed within a highly commercialised system. The most controversial dimensions of commercial practice in this area is not the patent on PCR per se, but is around the question of the patenting of genes and of genetic tests. This area is discussed further in relation to DNA in general in The Ethics of Patenting DNA: A Discussion Paper (2002, Nuffield Council on Bioethics).

• Fore, Joe Jr. Wiechers, lse R. and Cook-Deegan, Robert. 2006. The effects of business practices, licensing, and intellectual property on development and dissemination of the polymerase chain reaction: case study Journal of Biomedical Discovery and Collaboration 2006, 1:7doi:10.1186/1747-5333-1-7

Section: 3 - Bioinformatics   

a) bioinformatic approaches 

Bioinformatics has become the dominant paradigm for working with genomics in many areas. This does raise the question of who can make sense of genomics – biologists or computer scientists. The exome paper below can been seen as one of the ways in which a debate about who is qualified to make sense of genomics is playing out. Jenny Reardon’s (2011) paper available via subscription to Personalised Medicine (also available via Medscape) examines these tensions in the field explicitly and gives a clear picture of some of the stakes.

• Ng, Pauline C. Samuel Levy, Jiaqi Huang, Timothy B. Stockwell, Brian P. Walenz, Kelvin Li, Nelson Axelrod, Dana A. Busam, Robert L. Strausberg, J. Craig. Venter Genetic Variation in an Individual Human Exome. PLoS Genet 4(8): e1000160. doi:10.1371/journal.pgen.1000160

Haplotype mapping raises a whole set of debates and questions about race and human difference. This article sets out some of the later findings of the HapMap and demonstrates the kinds of typing that is going on in this area. For detailed accounts of the practices and challenges of this kind of human genomics see both Jenny Reardon’s Race to the Finish and Amade M’Charek’s The Human Genome Diversity Project.

• International HapMap Consortium. (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449(7164):851-861.

c) publishing the reference genome

The Human Genome Project ran from the late 1980s to 2003 and produced the human reference genome. These two articles signal the completion of the so-called first draft, which was announced to the world by the leaders of the USA and UK governments in 2000.

Section: 4 - Individual genomes: biodigital artefacts

a) mobilizing consumer data 

In this article the direct-to-consumer genetics company, 23andMe, publish their results from self-reporting or crowd sourced samples. These participant driven studies potentially open up consumer derived genetic databases and self reported phenotypical information to biomedical research.

• Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, et al. 2010 Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits. PLoS Genet 6(6): e1000993.

b) attempting clinical relevance

So far personal genomics has not had much application in clinical contexts. The overwhelming amount of highly specialised data generated by whole genome sequencing, and the light touch probabilities of genome scanning present either too much, or too little information. This paper outlines an attempt to put personal genomics in a clinical context.

• Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB (2010) Clinical assessment incorporating a personal genome. Lancet 375: 1525-35. PMID: 20435227

Attributions