Big medicine History and the Human Genome Project

Big medicine? History and the Human Genome Project HI 269 Week 22

Metaphors of heredity • • Mapping -- voyages of discovery “Like Columbus leaving the coast of Spain, the explorers of the Human genome cannot yet see beyond the horizon. . . the rest of us are like Ferdinand Isabella. We are paying for the voyage, and we know it’s underway. But we are left behind on terra firma. All we can do now is wait to see what the explorers bring back to us. ” Think also of colonialism (esp. in relationship to patenting genes and genetic sequences) Language --->Code context dependent --> deterministic information as metaphor --> information as product/fact Grail implications of HGP as a ‘quest’? Implications for science? Humanity? Libraries/reading ‘Book of Life’ ‘in the beginning was the word. . . ’

Genetics and Genomics: What’s the difference? • ‘Genetics’ is the study of individuals, and of the effects of specific DNA crosses. It also includes the study of chromosomal aberrations, mutations, etc. , resulting from individual events. • ‘Genomics’ is the study of the genetics of whole populations or even species (depending on how localised or dispersed those species are)

So what, then, was the ‘Human Genome Project’? • What do you think of when you hear the phrase ‘Human Genome Project’? • Does the idea engage your interest, or is it just another bit of science news? • Where does your information about this eneavour come from? • Are your impressions utopian or dystopian?

So what, then, was the ‘Human Genome Project’? • It was an attempt to ‘map’ or ‘sequence’ the entire genetic complement of a (composite) human. • It was the result of a campaign amongst biologists to produce ‘big biology’, equivalent to the ‘big science’ of the Manhattan Project or the Space Race • It reflected each participating nation’s very different perceptions of the appropriate relationship between public and private/corporate science

Rhetoric of the HGP • ‘As intended, the HGP has become a truly international effort to understand the structure and function of the human genome. Many countries are participating according to their specific interests and capabilities. Coordination is informal and generally effected at the scientist-to-scientist level. The U. S. component of the project is sponsored by the National Human Genome Research Institute at the National Institutes of Health (NIH) and the Office of Biological and Environmental Research at the Department of Energy (DOE). The HGP has benefited greatly from the contributions of its international partners. The private sector has also provided critical assistance. These collaborations will continue, and many will expand. Both NIH and DOE welcome participation of all interested parties in the accomplishment of the HGP's ultimate purpose, which is to develop and make publicly available to the international community the genomic resources that will expedite research to improve the lives of all people. ’ Francis S. Collins, * Ari Patrinos, Elke Jordan, Aravinda Chakravarti, Raymond Gesteland, Le. Roy Walters, and the members of the DOE and NIH planning groups, ‘New Goals for the U. S. Human Genome Project: 1998 -2003’, Science 292 (1998): 682 -89. All emphases added.

Chronology of the HGP • 1910 s-1930 s Mendelian inheritance, with development of research organisms, exploration of ‘recessive’ and ‘dominant’ characteristics; research on human heredity heavily slanted towards eugenic questions, interests and goals • 1940 s Shift away from eugenics, particularly as links between Nazi eugenics and Holocaust becomes clear; new focus on ‘human genetics’ and ‘linkage analysis’ • 1950 s Use of bacterial genetics; identification of the 22 paired human autosomes; discovery of structure of DNA points the way towards biochemical and later molecular studies of heredity; emergence of ‘genetic counseling’ (initially with emphasis on providing eugenic advice to parents, but turns away from this by end of decade • 1960 s Biochemical human variants identified, explored via molecular genetics – but molecular genetics painfully slow; extensive studies of the human chromosomes; search for map of human genome fully ‘liberated’ from eugenics: genetics to be studies for its own sake and medical applications

Chronology of the HGP • 1970 s-1980 s Molecular geneticists begin building support for a Human Genome Project, as biology’s ‘Space Race’. 1973 discovery of recombinant DNA hints at possibilities for faster, automated sequencing, base-pair by base-pair, in bacterial vectors. • 1990, the Human Genome Programs of the National Institutes of Health (NIH) and the Department of Energy (DOE) developed a joint research plan with specific goals for the first 5 years (FY 1991 - 1995) of the U. S. genome project

Impacts of the HGP • On medical and biomedical science? Did the HGP fulfil its promise as biology’s ‘space race’? Did it change the basic premises of what a ‘good’ question or research topic in biology might be? Did it change biological understandings of such key identity constructs as ‘race’ or ‘sex’? Did it produce new medical therapies or approaches?

Impacts of the HGP • On individual, familial, national identity? Did the HGP change how we look at ourselves? If so, how? Did the HGP change our models of the family, either directly or indirectly? (Think about its impact on understandings of hereditary diseases, for example) Did the HGP provide a new kind of national identity (either by its international ethos, or by the kinds of evolutionary or ‘historical’ knowledge claims about human groups that it encouraged? )

At 3: 04 pm on 27 Apr 2009, joepublic 99 wrote “I think the rules should be changed that make it fairer for all and make the border agencies do their jobs properly. So my suggestion is that any "illegal" immigrant who makes it past the professional and diligent efforts of the Border Control Agency therefore has the right to stay in the UK and after 366 days can obtain full British Citizenship subject to an extra caveat as below. . . The payback is that ANY "illigal" immigrant / (new British citizen) under this scheme who is subsequently convicted of a custodial sentence in the British legal system at any time in their life is then stripped of British nationality and subject to deportation to their original country without appeal and exempt from any consideration under the laws on human rights. If an original country cannot be determined the individual shall be genetically tested, the country and area of origin identified and the individual deported there. Stick it in the constitution and away we go. It's a kind of contract between the UK state and the "illegals". Keeps it simple and efficient. Puts the onus on the border control agency to do their jobs properly in the first place and not become the types of people described in the article. …” Downloaded from http: //www. bbc. co. uk/blogs/thereporters/markeaston/2009/04/the_arrest_and_det ention_of_ch. html#comments

Impacts of the HGP • On our conceptions of history? What does it mean that genetic scientists encourage us to look for ‘the history of mankind’ in our genomes? Do you think that the question ‘Who do you think you are? ’ can be answered through genomics?