As genetic tests become cheaper and more readily available, pressure is increasing to routinely test individuals for susceptibility genes for complex common disorders. Using Alzheimer’s disease (AD) as an illustrative example, it is shown how population databases of AD cases on which individual risk estimates are based are faulty due to confusion about the AD phenotype. Furthermore, the APOEe4 genotype associated with increased risk of AD is neither necessary nor sufficient to cause AD. The article concludes with ethnographic findings that result from interviews with individuals who have been tested for their APOE status.
American Geriatrics Society.2001. Genetic testing for late-onset Alzheimer’s disease. AGS Ethics Committee . Journal of American Genetic Society49(2):225-6.
2.
Ballenger, Jesse F.2006. Self, senility, and Alzheimer’s disease in modern America: A history. Baltimore: Johns Hopkins University Press.
3.
Barnes, Barry, and John Dupré .2008. Genomes and what to make of them. Chicago: University of Chicago Press.
4.
Beck, Stefan, and Jörg Niewöhner .2006. Somatic investigations across levels of complexity. Biosocieties1:219-27.
5.
Bertram, Lars, and Rudolph E. Tanzi .2004. Alzheimer’s disease: One disorder, too many genes?Human Molecular Genetics13:R135-41.
6.
Bertram, Lars, and Rudolph E. Tanzi .2009. Genome-wide association studies in Alzheimer’s Disease. Human Molecular Genetics18R2:R137-45. doi: 10. 1093/hmg/ddp406.
7.
Brice, Phillipa.2004. Barcode babies: Prospects for genetic profiling. Biolines. http://www.cambridgenetwork.co.uk/pooled/profiles/BF_COMP/view.asp?Q=BF_COMP_9786 (Accessed June 15, 2009).
8.
Buchanan, Anne, Samuel Sholtis, Joan Richtsmeier and Kenneth Weiss. 2009. What are genes ‘‘for’’ or where are traits ‘‘from’’? What is the question?BioEssays31: 198-208.
9.
Clarke, Angus.2009. Musings on genome medicine: The value of family history . Genome Medicine1:75.
10.
Collins, Francis.2003. Future visions: How will genetics change our lives? Time February17, 42.
11.
Corder, E.H., A.M. Saunders, W.J. Strittmatter, D.E. Schmechel, P.C. Gaskell, G.W. Small, A.D. Roses, J.L. Haines, and M.A. Pericak-Vance .1993. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families . Science261:921-3.
12.
Featherstone, Katie.2006. Risky relations: Family, kinship and the new genetics . New York: Berg Publishers.
13.
Gelbart, W.1998. Data bases in genomic research. Science282:660.
14.
Gilbert, Scott F.2002. The genome in its ecological context: Philosophical perspectives on interspecies epigenisis. Annals of the New York Academy of Sciences981:202-18.
15.
Halpern, Sue.2005. The gene hunters: Closing in on the origins of Alzheimer’s disease. The New Yorker, December 12, 84-93.
16.
Health Canada.2001. Genetic testing for late onset diseases: In-depth thematic analysis of policy and jurisdictional issues. Ottawa: Ministry of Supply and Services.
17.
Hendrie, Hugh.2009. Diagnosis of dementia and Alzheimer’s disease in Indianapolis and Ibadan: Challenges in cross-cultural studies of aging and dementia. Alzheimer’s and Dementia5:P122.
18.
Jablonka, Eva, and Marion J. Lamb.2005. Evolution in four dimensions: Genetic, epigenetic, behavioral, and symbolic variation in the history of life, life and mind. Cambridge, MA: MIT Press.
19.
Keller, Evelyn Fox.2000. The century of the gene. Cambridge : Harvard University Press.
20.
Kier, F.J., and V. Molinari.2003. ‘‘Do-it-yourself’’ dementia testing: Issues regarding an Alzheimer’s home screening test . Gerontologist43:295-301.
21.
Lippman, Abby.1992. Led (Astray) by genetic maps: The cartography of the human genome and human care. Social Science and Medicine35:1469-96.
22.
Lock, Margaret.2005. Eclipse of the gene and the return of divination. Current Anthropology46:S47-70.
23.
Lock, Margaret, Julia Freeman, Gillian Chilibeck, Briony Beveridge, and Miriam Padolsky .2007. Susceptibility genes and the question of embodied identity. Medical Anthropology Quarterly21:256-76.
24.
Maury, C.P.J.2009. The emerging concept of functional amyloid. Journal of Internal Medicine265:329-34.
25.
Myers, R.H., E.J. Schaefer, P.W. Wilson, R. D’Agostino, J.M. Ordovas, A. Espino, R. Au, R.F. White, J.E. Knoefel, J.L. Cobb, K.A. McNulty, A. Beiser, and P.A. Wolf.1996. Apolipoprotein E epsilon4 association with dementia in a population-based study: The Framingham study. Neurology46:673-7.
26.
Neumann-Held, Eva M., and Chistoph Rehmann-Sutter.2006. Genes in development: Rereading the molecular paradigm. Durham: Duke University Press.
27.
Rapp, Rayna.1999. Testing women, testing the fetus: The social impact of amniocentesis. New York: Routledge Press.
28.
Richards, Martin.1996. Lay and professional knowledge of genetics and inheritance . Public Understanding of Science5:217-30.
29.
Savva, G.M., S.B. Wharton, P.G. Ince, G. Forster, F.E. Matthews, C. Brayne, and Medical Research Council Cognitive Function and Ageing Study.2009. Age, neuropathology, and dementia. New England Journal of Medicine360: 2302-9.
30.
Schipper, Hyman M.2010. Apolipoprotein: Implications for AD neurobiology, epidemiology and risk assessment. Neurobiology of aging31(1):34-45.
31.
Scriver, Charles R. and Paula V. Waters.1999. Monogenetic traits are not simple: lessons from phenylketonuria . Trends in Genetics15(7): 267-272.
32.
Snowdon, David.2001. Aging with grace. New York: Bantam Books.
33.
St. George-Hyslop, P.2000. Molecular genetics of Alzheimer’s disease. Biological Psychiatry47:183-99.
34.
Stotz, Karola, Adam Bostanci, and Paul Griffiths.2006. Tracking the shift to post-genomics . Community Genetics9:190-6.
35.
Strohman, R.2001. A new paradigm for life: Beyond genetic determinism. California Monthly111:4-27.
36.
Swartz, R.H., S.E. Black, and P. St. George-Hyslop.1999. ApolipoproteinE and Alzheimer’s Disease: A Genetic, Molecular and Neuroimaging Review. Canadian Journal of Neurological Sciences26:77-88.
37.
Tilley, L., K. Morgan, and N. Kalsheker.1998. Genetic risk factors in Alzheimer’s disease. Journal of Clinical Pathology: Molecular Pathology51:293-304.
38.
Turney, John.1995. The public understanding of science-Where next? European Journal of Genetics in Society1:5-22.
39.
Waalen, Jill, and Ernest Beutler.2009. Genetic screening for low-penetrance variants of protein-coding genes. Annual Review of Genomics and Human Genetics10:431-50.
40.
Whitehouse, Peter J.2008. The myth of Alzheimer’s. New York: St. Martin’s Press.
41.
Vorhaus, Dan.2010. Genomics Law Report. http://www.genomicslawreport.com/index.php/2010/03/18/evaluating-the-nihs-new-genetic-testing-registry/1 (accessed March 18, 2010).
42.
Yoxen, Edward J.1982. Constructing genetic diseases. In The problem of medical knowledge: Examining the social construction of medicine, ed. P. Wright and A. Treacher, 144-61. Edinburgh: University of Edinburgh.
