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Big medicine? History and the Human Genome Project


Big medicine? History and the Human Genome Project HI269 Week 22 – PowerPoint PPT presentation

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Title: Big medicine? History and the Human Genome Project

Big medicine? History and the Human Genome
  • HI269
  • 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 and
    Isabella. We are paying for the voyage, and we
    know its 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 ---gtCode
  • context dependent --gt deterministic
  • information as metaphor --gt information as
  • 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 Whats 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
  • 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 nations very
    different perceptions of the appropriate
    relationship between public and private/corporate

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
  • Francis S. Collins, Ari Patrinos, Elke Jordan,
    Aravinda Chakravarti, Raymond Gesteland, LeRoy
    Walters, and the members of the DOE and NIH
    planning groups, New Goals for the U.S. Human
    Genome Project1998-2003, Science 292 (1998)
    682-89. All emphases added.

Chronology of the HGP
  • 1910s-1930s 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
  • 1940s Shift away from eugenics, particularly as
    links between Nazi eugenics and Holocaust becomes
    clear new focus on human genetics and linkage
  • 1950s 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
  • 1960s 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
  • 1970s-1980s Molecular geneticists begin building
    support for a Human Genome Project, as biologys
    Space Race. 1973 discovery of recombinant DNA
    hints at possibilities for faster, automated
    sequencing, base-pair by base-pair, in bacterial
  • 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 biologys
    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

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

At 304pm on 27 Apr 2009, joepublic99 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//
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?