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Unifying diseases from a genetic point of view: the example of the genetic theory of infectious diseases

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Abstract

In the contemporary biomedical literature, every disease is considered genetic. This extension of the concept of genetic disease is usually interpreted either in a trivial or genocentrist sense, but it is never taken seriously as the expression of a genetic theory of disease. However, a group of French researchers defend the idea of a genetic theory of infectious diseases. By identifying four common genetic mechanisms (Mendelian predisposition to multiple infections, Mendelian predisposition to one infection, and major gene and polygenic predispositions), they attempt to unify infectious diseases from a genetic point of view. In this article, I analyze this explicit example of a genetic theory, which relies on mechanisms and is applied only to a specific category of diseases, what we call “a regional genetic theory.” I have three aims: to prove that a genetic theory of disease can be devoid of genocentrism, to consider the possibility of a genetic theory applied to every disease, and to introduce two hypotheses about the form that such a genetic theory could take by distinguishing between a genetic theory of diseases and a genetic theory of Disease. Finally, I suggest that network medicine could be an interesting framework for a genetic theory of Disease.

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Notes

  1. The application of this framework is easy to imagine for most monogenic and complex diseases, including the infectious diseases I discussed above. It may prove difficult for some specific cases, such as environmental poisoning or brutal accidents. That said, defining these cases as diseases may itself be problematic.

References

  1. Melendro-Olivier, Sarah. 2004. Shifting concepts of genetic disease. Science Studies 1: 20–33.

    Google Scholar 

  2. Lindee, Susan M. 2000. Genetic Disease since 1945. Nature Reviews Genetics 1: 236–241.

    Article  Google Scholar 

  3. Scriver, Charles R., and Paula J. Waters. 1999. Monogenic traits are not simple: lessons from phenylketonuria. Trends in Genetics 15: 267–272.

    Article  Google Scholar 

  4. Dipple, Kathrina M., and Edward R.B. McCabe. 2000. Modifier genes convert ‘simple’ Mendelian disorders to complex traits. Molecular Genetics and Metabolism 71: 43–50.

    Article  Google Scholar 

  5. Lippman, Abby. 1994. The genetic construction of prenatal testing: choice, consent or conformity for women? In Women and prenatal testing: facing the challenges of genetic testing, ed. Karen H. Rothenberg, and Elizabeth J. Thompson, 8–34. Columbus: Ohio State University Press.

    Google Scholar 

  6. Magnus, David. 2004. The concept of genetic disease. In Health, disease and illness, ed. Arthur L. Caplan, James J. McCartney, and Dominic A. Sisti, 233–242. Washington: Georgetown University Press.

    Google Scholar 

  7. Gifford, Fred. 1990. Genetic traits. Biology and Philosophy 3: 327–347.

    Article  Google Scholar 

  8. Smith, Kelly C. 2007. Towards an adequate account of genetic disease. In Establishing medical realities, ed. Harold Kincaid, and Jenifer M. McKitrick, 83–100. Dordrecht: Springer.

    Chapter  Google Scholar 

  9. Hull, Richard T. 1979. Why genetic disease? In Genetic counseling: facts, values and norms, ed. Alexander M. Capron, Marc Lappé, Robert F. Murray, Jr., Tabitha M. Powledge, and Sumner B. Twiss, vol. 15, no. 2 of March of Dimes Birth Defects Original Article Series, 57–69. New York: Alan R. Liss, Inc.

  10. Mackie, John L. 1965. Causes and conditions. American Philosophical Quarterly 2: 245–264.

    Google Scholar 

  11. Gannett, Lisa. 1999. What’s in a cause? The pragmatic dimensions of genetic explanations. Biology and Philosophy 14: 349–374.

    Article  Google Scholar 

  12. Caplan, Arthur L. 1992. If gene therapy is the cure, what is the disease? In Gene mapping: using laws and ethics as guides, ed. George J. Annas, and Sherman Elias, 128–141. New York: Oxford University Press.

    Google Scholar 

  13. Casanova, Jean-Laurent, and Laurent Abel. 2007. Human genetics of infectious diseases: a unified theory. EMBO Journal 4: 915–922.

    Article  Google Scholar 

  14. Evans, Alfred S. 1976. Causation and disease: effects of technology on postulates of causation. Yale Journal of Biology and Medicine 64: 513–528.

    Google Scholar 

  15. Stewart, Georges T. 1968. Limitations of germ theory. Lancet 291: 1077–1081.

    Article  Google Scholar 

  16. Alter, Andrea, Audrey Grant, Laurent Abel, Alexandre Alcaïs, and Erwin Schurr. 2011. Leprosy as a genetic disease. Mammalian Genome 22: 19–31.

    Article  Google Scholar 

  17. Alcaïs, Alexandre, Laurent Abel, and Jean-Laurent Casanova. 2010. Human genetics of infectious diseases. In Vogel and Motulsky’s human genetics (problems and approaches), ed. Michael R. Speicher, Stylianos E. Antonorakis, and Arno G. Motulsky, 403–416. Heidelberg: Springer.

    Google Scholar 

  18. Kwiatkowski, Dominic. 2000. Science, medicine and the future: susceptibility to infection. British Medical Journal 321: 1061–1065.

    Article  Google Scholar 

  19. Abel, Laurent, Alexandre Alcaïs, and Jean-Laurent Casanova. 2009. Human genetics of infectious diseases: between proof of principle and paradigm. Journal of Clinical Investigation 9: 2506–2514.

    Google Scholar 

  20. Abel, Laurent, and Jean-Laurent Casanova. 2000. Genetic predisposition to clinical tuberculosis: bridging the gap between simple and complex inheritance. American Journal of Human Genetics 67: 274–277.

    Article  Google Scholar 

  21. Baghdadi, El, Orlova Marianna Jamila, Andrea Alter, et al. 2006. An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. Journal of Experimental Medicine 203: 1679–1684.

    Article  Google Scholar 

  22. Collège National des Enseignants et Praticiens de Génétique Médicale. 2004. Génétique médicale, formelle, chromosomique, moléculaire, clinique. Paris: Masson.

    Google Scholar 

  23. Bechtel, William, and Adele Abrahamsen. 2005. Explanation: a mechanist alternative. Studies in History and Philosophy of Biological and Biomedical Sciences 36: 421–441.

    Article  Google Scholar 

  24. Machamer, Peter, Lindley Darden, and Carl F. Craver. 2000. Thinking about mechanisms. Philosophy of Science 67: 1–25.

    Article  Google Scholar 

  25. Virgin, Herbert W., and John A. Todd. 2011. Metagenomics and personalized medicine. Cell 147: 44–56.

    Article  Google Scholar 

  26. Badano, José L., and Nicholas Katsanis. 2002. Beyond Mendel: an evolving view of human genetic disease transmission. Nature Genetics 3: 779–789.

    Google Scholar 

  27. Dipple, Katrina M., and Edward R.B. McCabe. 2000. Phenotypes of patients with ‘simple’ Mendelian disorders are complex traits: thresholds, modifiers and systems dynamics. American Journal of Human Genetics 66: 1729–1735.

    Article  Google Scholar 

  28. Thagard, Paul. 2006. What is a medical theory? In Multidisciplinary approaches to theory in medicine, ed. Ray Paton, and Lauren A. McNamara, 47–62. Amsterdam: Elsevier.

    Google Scholar 

  29. Barabasi, Albert-Làszlò, Natali Gulbahce, and Joseph Loscalzo. 2011. Network medicine: a network-based approach to human disease. Nature Genetics Reviews 12: 56–68.

    Article  Google Scholar 

  30. Debret, Gaëlle, Camille Jung, Jean-Pierre Hugot, Leigh Pascoe, and Annick Lesne. 2011. Genetic susceptibility to a complex disease: the key role of functional redundancy. History and Philosophy of the Life Sciences 33: 497–514.

    Google Scholar 

  31. Oti, Martin, and Han G. Brunner. 2007. The modular nature of genetic diseases. Clinical Genetics 71: 1–11.

    Article  Google Scholar 

  32. Loscalzo, Joseph, Isaac Kohane, and Albert-Làszlò Barabasi. 2007. Human disease classification in the postgenomic era: a complex systems approach to human pathobiology. Molecular Systems Biology 3: 124.

    Article  Google Scholar 

  33. Tu, Zhidong, Li Wang, Xu Min, Xianghong Zhou, Ting Chen, and Fengzhu Sun. 2006. Further understanding human disease genes by comparing with housekeeping genes and other genes. BMC Genomics 7: 31.

    Article  Google Scholar 

  34. Chavali, Sreevenas, Fredrik Barrenas, Kartiek Kanduri, and Michael Benson. 2010. Network properties of human disease genes with pleiotropic effects. BMC Systems Biology 4(78): 1–11.

    Google Scholar 

  35. Jimenez-Sanchez, Gerardo, Barton Childs, and David Valle. 2001. Human disease genes. Nature 409: 853–855.

    Article  Google Scholar 

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Acknowledgments

This article is an expanded version of a paper presented at the International Philosophy of Medicine Roundtable in San Sebastian, Spain. I have greatly benefited from many discussions with the participants of the roundtable, especially with Fred Gifford. This paper also owes much to the many discussions with and very helpful comments from members of the Institut d’Histoire et de Philosophie des Sciences et des Techniques (IHPST), namely, Jean Gayon, Thomas Pradeu, Maël Lemoine, and Hélène Richard. Finally, I would like to thank Julia Bursten for kindly correcting my English mistakes.

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  1. Institut d’Histoire et de Philosophie des Sciences et des Techniques (IHPST), Université Paris, 1 Panthéon Sorbonne, 13 rue du Four, 75006, Paris, France

    Marie Darrason

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Correspondence to Marie Darrason.

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Darrason, M. Unifying diseases from a genetic point of view: the example of the genetic theory of infectious diseases. Theor Med Bioeth 34, 327–344 (2013). https://doi.org/10.1007/s11017-013-9260-6

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