Abstract
The expression “genetic disease” suggests the idea that one or more genes cause a disease. Since the identification of the so-called disease-causing genes, many genetic variants associated with common diseases such as diabetes or cancer have been identified. But if the involvement of genetic factors in the development of a condition justifies labeling it “genetic,” the definition of genetic disease is likely to become trivial. Indeed, all human diseases would be genetic, since virtually every medical condition, disease susceptibility, or response to treatment is caused, regulated, or influenced by genes. Moreover, genes alone are not responsible for the development of diseases: their etiology is complex with many factors interacting with each other. So when is giving primary importance to genetic factors justified? The history of medicine may help us see which biological and technological advances have influenced conceptualization of genetic disease, while philosophical analyses of the causal selection problem may help us better understand how one might justify claims that genes are the main causes of certain diseases. The last part of the article examines interactionist attempts to deal with genetic factors involved in human diseases and particularly network medicine.
References
Badano JL, Katsani N (2002) Human genetics and disease: beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet 3(10):779–790
Barabási AL (2007) Network medicine: from obesity to the “diseasome”. N Engl J Med 357:404–407
Barabási AL, Gulbahce N, Loscalzo J (2011) Network medicine: a network-based approach to human disease. Nat Rev Genet 12(1):56–68
Bates GP (2005) History of genetic disease: the molecular genetics of Huntington disease – a history. Nat Rev Genet 6(10):766–773
Beurton P, Falk R, Rheinberger HJ (eds) (2000) The concept of the gene in development and evolution. Historical and epistemological perspectives. Cambridge University Press, Cambridge
Braun P, Rietman E, Vidal M (2008) Networking metabolites and diseases. Proc Natl Acad Sci 105(29):9849–9850
Caspi A, McClay J, Moffitt TE et al (2002) Role of genotype in the cycle of violence in maltreated children. Science 297:851–854
Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333
Chen Y, Zhu J, Lum PY et al (2008) Variations in DNA elucidate molecular networks that cause disease. Nature 452:429–435
Dausset J (1972) Correlation between histocompatibility antigens and susceptibility to illness. Prog Clin Immunol 1:183–210
Dausset J (1996) Predictive medicine. Eur J Obstet Gynaecol Reprod Biol 65:29–32
Dekeuwer C (2015) Defining genetic disease. In: Huneman P, Lambert G, Silberstein M (eds) Classification, disease and evidence. Springer, Dordrecht, pp 147–164
Dipple KM, McCabe ERB (2000) Modifier genes convert “simple” Mendelian disorders to complex traits. Mol Genet Metab 71:43–50
Epstein CJ (2006) Medical genetics in the genomic medicine of the 21st century. Am J Hum Genet 79(3):434–438
Friebel TM, Domchek SM, Rebbeck TR (2014) Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. J Natl Cancer Inst 106(6):1–15
Galas DJ, Hood L (2009) Systems biology and emerging technologies will catalyze the transition from reactive medicine to predictive, personalized, preventive and participatory medicine. Interdiscip Biol Central 1(2):1–4
Gannett L (1999) What’s in a cause? The pragmatic dimensions of genetic explanations. Biol Philos 14:349–374
Gifford F (1990) Genetic traits. Biol Philos 5(3):327–347
Hedgecoe AM (2002) Reinventing diabetes: classification, division and the geneticization of disease. New Genet Soc 21(1):7–27
Hedgecoe AM (2003) Expansion and uncertainty: cystic fibrosis, classification and genetics. Sociol Health Illn 25(1):50–70
Hesslow G (1984) What is a genetic disease? On the relative importance of causes. In: Nordenfelt L, Lindahl BIB (eds) Health, disease, and causal explanations in medicine. Springer, Dordrecht, pp 183–193
Hesslow G (1988) The problem of causal selection. In: Hilton DJ (ed) Contemporary science and natural explanation: commonsense conceptions of causality. Harvester Press, Brighton, pp 11–31
Hoedemaekers R, Ten Have HAMJ (1998) Geneticization: the Cyprus paradigm. J Med Philos 23(3):274–287
Hood L (2004) Systems biology and the New technologies enable predictive and preventative medicine. Science 306(5696):640–643
Hood L, Flores M (2012) A personal view on systems medicine and the emergence of proactive P4 medicine: predictive, preventive, personalized, and participatory. N Biotechnol 29(6):613–624
Kerr A (2004) Giving up on geneticization: a comment on Hedgecoe’s “Expansion and uncertainty: cystic fibrosis, classification and genetics”. Sociol Health Illn 26(1):102–106
Kerr A (2005) Understanding genetic disease in a socio-historical context: a case study of cystic fibrosis. Sociol Health Illn 27(7):873–896
Kitcher P (2003) Battling the undead. How (and how not) to resist genetic determinism. In: Kitcher P (ed) In Mendel’s mirror. Philosophical reflections on biology. Oxford University Press, Oxford, pp p283–p300
Lewontin RC (2000) The triple helix: gene, organism and environment. Harvard University Press, Cambridge, MA
Lippman A (1991) Prenatal genetic testing and screening: constructing needs and reinforcing inequalities. Am J Law Med 17:11–50
Loscalzo J, Kohane I, Barabási AL (2007) Human disease classification in the postgenomic era: a complex system approach to human pathobiology. Mol Syst Biol 3(1):1–11
Magnus D (2004) The concept of genetic disease. In: Caplan AL, McCartney JJ, Sisti DA (eds) Health, disease, and illness: concepts in medicine. Georgetown University Press, Washington, pp 233–242
Manolio TA, Collins FS, Cox NJ et al (2009) Finding the missing heritability of complex diseases. Nature 461(7265):747–753
Misra S (2013) Human gene therapy: a brief overview of the genetic revolution. JAPI 61:127–133
Nelkin D, Lindee MS (1995) The DNA mystique: the gene as a cultural icon. University of Michigan Press, Ann Arbor
Norell S (1984) Models of causation in epidemiology. In: Nordenfelt L, Lindahl BIB (eds) Health, disease, and causal explanations in medicine. Reidel, Dordrecht
Oyama S (1985) The ontogeny of information: developmental systems and evolution. Cambridge University Press, Cambridge
Reich DE, Lander ES (2001) On the allelic spectrum of human disease. Trends Genet 17(9):502–510
Smith GD (2007) Towards an adequate account of genetic disease. In: Kincaid H, McKitrick J (eds) Establishing medical reality – essays in the metaphysics and epistemology of biomedical science. Springer, Dordrecht, pp 83–110
Tabery J (2007) Biometric and developmental gene–environment interactions: looking back, moving forward ». Dev Psychopathol 19(4):961–976
Tabery J (2009) From a genetic predisposition to an interactive predisposition: rethinking the ethical implications of screening for gene-environment interactions. J Med Philos 34(1):27–48
The Welcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661–678
Visscher PM, Brown MA, McCarthy MI et al (2012) Five years of GWAS discovery. Am J Hum Genet 90(1):7–24
Zhou X, Menche J, Barabási AL et al (2014) Human symptoms–disease network. Nat Commun 5:1–10
Online Resources
Gene Therapy Clinical Trial Worldwide. http://www.abedia.com/wiley/. Accessed 20 Jul 2015
Online Inheritance in Man. http://omim.org/. Accessed 20 Jul 2015
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Dekeuwer, C. (2017). Conceptualization of Genetic Disease. In: Schramme, T., Edwards, S. (eds) Handbook of the Philosophy of Medicine. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-8688-1_81
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