2011 marek v cha n.
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Human GENOME PROJECT Ethical Issues

Human GENOME PROJECT Ethical Issues

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Human GENOME PROJECT Ethical Issues

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  1. 2011 Marek Vácha Human GENOME PROJECTEthicalIssues

  2. Human Genome – InternalUniverse • After many centuries of investigations we have built up an approximate understanding of at least the more accesible parts of our external Universe • ...however, there is also a largely unexplored Universe within us • about 1011 neurons • and somewhere in the region of 1015 interconnections

  3. Human Genome

  4. Human Genome

  5. Human Genome

  6. Discrepanciesbetween Chromosome Number and Sequence Lenght Chromosome 21 is bigger than 22 Chromosomes 9,10,11 are also named in the wrong order

  7. What does it mean to be a human? Why we act as we act? } • Nature (Genes) • Nurture (Environment) • Developmental Noise • Freedom Philosophy Science

  8. James Watson • ” We used to think that our fate was in our stars. Now we know, in large part, that our fate is in our genes.“

  9. FrancisCrick • The development of biology is going to destroy to some extent our traditional grounds for ethical beliefs, and it is not easy to see what to put in their place.

  10. Zdroj:

  11. Zdroj:

  12. A Man: a Periodic Table of Genes? • „All matter can be reduced to a periodic table of elements, but at a higher level, every living thing can be reduced to a periodic table of genes.“ • (Strachan, T., Read, A.P., (2004) Human Molecular Genetics. 3rd ed. Garland Publishing, New Yourk, p. 208)

  13. JamesWatson: ”We used to think that our fate was in our stars. Now we know, in large part, that our fate is in our genes.“ Walter Gilbert: „When we have the complete sequence of the human genome, we will know what it is to be a human“ E.O.Wilson:Ethics, as we understand it, is an illusion fobbed on us by our genes to get us to cooperate.

  14. E.O. Wilson( On Human Nature) • „The question is no longer whether human socialbehavior is geneticallydetermined. It is to what extent. The accumulated evidence for a largehereditarycomponent is more detailed and compelling than most persons, includingevengeneticists, realize. I will go further, it is decisive.“

  15. The psychologist Thomas Bouchard has said, "For almost every behavioral trait so far investigated, from reaction time to religiosity, an important fraction of the variation among people turns out to be associated with genetic variation. This fact need no longer be subject to debate; rather it is time instead to consider its implications.„ •

  16. Robert Weinberg • So what are you going to do if you begin to find on a chip of a child's DNA that this kid is likely to be very good in language, probably is going to have poor math skills, will be a rather anxious and obsessive person, will have difficulty associating with his or her peers, and is likely to come down with heart disease at the age of 45? How is that going to affect your relationship to that person, that child?

  17. HGP Salvador Luria: “‘Will the Nazi program to eradicate Jewish or otherwise ‘inferior’ genes by mass murder be transformed into a kinder, gentler program to ‘perfect’ human individuals by ‘correcting’ their genomes in conformity perhaps to an ideal ‘white, Judeo-Christian, economically successful’ genotype?“

  18. Three StageApproach

  19. Whole-genom shotgun approachCelera Genomics

  20. Public Consortium and Celera

  21. Public Consortium x CeleraGenomicsFrancisCollinsCraigVenter

  22. Genome Gallery

  23. Galerie genomů

  24. Genome Gallery

  25. Number of Genes • Mycoplasma genitalium – 480 genes • probably 265 – 350 genes only are really irreplaceable

  26. Number of Chromosomes • Myrmecia pilosula 1 pair of chromosomes • fern Ophioglossum reticulatum 630 pairs of chromosomes

  27. Ethical Issues: The Chimpanzee GenomeAre there any differencesbetweenchimps and humans? • The chimpanzee genome is 98.77% identical to the human genome. On average, a typical human protein-coding gene differs from its chimpanzee ortholog by only two amino acid substitutions; nearly one third of human genes have exactly the same protein translation as their chimpanzee orthologs. A major difference between the two genomes is human chromosome 2, which is the product of a fusion between chimpanzee chromosomes 12 and 13.

  28. EthicalIssues • knowledge gained from the HGP may lead to the construction of a „standard“ human genome. • if this occurs, one must ask what variation society would view as permissible before an individual´s genome was labelled substandart or abnormal?

  29. Human Genome Diversity ProjectHGDP • this project would map DNA from approximately 25 individuals representing 500 of the world´s 5000 or so different ethnic groups • concerns about discriminations of some ethnics

  30. Human Genome Diversity ProjectHGDP • first proposed in 1991 by a group of human geneticist, led by LucaCavalli-Sforza and Allan Wilson • project was launched in September 1993 • the primarygoals of the founders were to advance research into human history and evolution, but they foresaw other possible uses – in medicine, population genetics, anthropology, and other fields • …what they did not foresee was the ethical – and political – stormahead the Project • (Jobling, M.A., Hurles, M.E., Tyler-Smith, C., (2004) Human EvolutionaryGenetics. Garland Publisher, New York, p. 275)

  31. Human Genome Diversity ProjectHGDP • RAFI (RuralAdvancementFoundationInternational) had begunexcoriateproject as „bio-pirate“ interested in • stealingvaluablegenes from indigenous people • underhandedcommercialgoals • planning to undermineindigenousculture • overthrowindigenouslandrights • to help US produceethnicallytargetedbiologicalweapons • to clonearmies of indigenouswarriorslaves • (Jobling, M.A., Hurles, M.E., Tyler-Smith, C., (2004) Human EvolutionaryGenetics. Garland Publisher, New York, p. 275)

  32. Human Genome Diversity ProjectHGDP • the HGDP continues to exist but, probably at least in part because of the politicalcontroversyattached to it, has never receivedsubstantialfunding – and has never come close to achieving its goals • this project would map DNA from approximately 25 individualsrepresenting 500 of the world´s 5000 or so differentethnicgroups, a total of 12 500 individuals(25x500) • obavy z diskriminace domorodých populací, a tedy z jakési formy novodobého rasismu

  33. Human Genome Diversity ProjectHGDP • Whenevergenetics is used to look at nationalities or ethnicities, its methods, and its history, raiseconcerns about how the data might be used, or abused, to support racist or nationalisticviews. When the groupsinvolved have been oppressed, they may well fear commercialexploitation or worseharms, up to genocide. • And, givenhistory of Australianaboriginal people or NativeAmericanNations, their reluctance to participate is not, and must not be treated as, unreasonable. • Sometimes, in spite of researcher´s besteffort, indigenous people will say no. One key to ethical human population genetics research is learning to accept that answer. • (Jobling, M.A., Hurles, M.E., Tyler-Smith, C., (2004) Human EvolutionaryGenetics. Garland Publisher, New York, p. 275)

  34. The Ethics of Genome Sequence Publications • as soon as the first sequences were published it becameapparent that they could only be used if available in computerreadableform • 1980s • the EuropeanMolecular Biology Laboratory (EMBL) • the National Institute of Health (NIH) • JapaneseNational Institute of Genetics • these organizations later joined into an effectiveinternationalcollaboration to share data

  35. The Ethics of Genome Sequence Publications • 2003: • this communitydatabase (EMBL-bank/GenBank/DDBJ) • contains over 40 billionbp of sequence • from over 100 000 differentorganism • All three databasesimplemented a policy that was bothcourageous and foresighted: to make all of their data freely available to all (whether they be companies, academics or „John Smith“)

  36. The Ethics of Genome Sequence Publications • By the late 1980s most reputablescientificjournals were demandingdeposition of sequence data in this database as a pre-condition for the publication of a scientificpaper. • This immediatelygaverise to a conflict: commercialcompanies (and some academics) saw their DNA sequence data as a intelectual property that might be turned into money. They were oftenreluctant to make their data freely available, since this mightbothcompromise patent protection and reducevalue of their „property“.

  37. BermudaAgreement 1996 • = all data from the Human Genome Project will be deposited in the public sequence databanks • each sequencing center will release its own data every day

  38. BermudaAgreement 1996 • 1998: Celera Genomics • „Discovery can´t wait!“ • Public consortium had no access to Celera´sequence data • Celera had free access to Public consortium data

  39. Human Genome: Invention or Discovery? • Human Genome is a discovery, freely available to all – like calendar • or Einstein theory of Relativity • or Double Helix of DNA • Human Genome is a invention • like a bulb • or steam engine • can patent invention, but not discovery

  40. Human Genome: Discovery • Human Genome is a discovery • sequence data of human genome – or any other organism –are fundamental to biology • they are as fundamental as the periodic table is to chemistry and as Euclid´s axioms are to mathematics • data belong to all of us, • they are not commodities to be sold in the market place like apples and oranges!

  41. Human Genome: Discovery • there is also pragmatic reason: databases are most useful if, within a givenscientificdomain, they are not fragmented • much of moderngenomics would simply be impossible if the universe of sequence data were split betweenhundreds of differentdatabases • by allowingpublicationwithout sequence data deposition in the community sequence databseScience has encouragedfragmentation of the universe sequence data

  42. Patenting of Human Genes • genetics research should be a cooperative search for new knowledge, rather the self-interested pursuit of profits • once patenting comes to the fore, researchers may become increasingly reluctant to share information, thereby diminishing its transfer between laboratories

  43. p Humans show little genetic variation compared with other species p Genetická variabilita (%)