Key Points
This chapter considers:
• How and why commercial gene tests are being marketed outside of clinical genetic services;
• Why commercial gene test companies give widely divergent interpretations of the same DNA;
• Whether conflicting interpretations matter and how they might be harmful;
• Whether there are any steps that should be taken to protect consumers.
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References
Breast Cancer Association Consortium. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst 2006; 98(19): 1382–1396.
Burrill & Company/Change Wave Research. Personalized medicine and wellness survey. 2008. Executive summary. http://www.burrillandco.com/content/CWSurvey_61708.pdf
Carter JN, Ballester PJ, Tavassoli Z, King PR. Our calibrated model has no predictive value: an example from the petroleum industry. Reliab Eng Syst Saf 2006; 91(10–11): 1373–1381.
Council of Europe. Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes. Brussels, Belgium, 2008. http://conventions.coe.int/Treaty/EN/Treaties/Html/TestGen.htm
Collins FS. Shattuck lecture – medical and societal consequences of the human genome project. N Engl J Med 1999; 341: 28–37.
da Costa e Silva O, Knöll R, Jager M. Personalized nutrition: an integrative path to success. Genes Nutr 2007; 2: 23–25.
Fleming N. Rival genetic tests leave buyers confused. The Sunday Times. 7th September 2008.
Gardiner SJ, Begg EJ. Pharmacogenetics, drug-metabolizing enzymes, and clinical practice. Pharmacol Rev 2006; 58(3): 521–590.
Gilham I, Rowland T. Predictive medicine: potential benefits from the integration of diagnostics and pharmaceuticals. Int J Med Mark 2001; 2: 18–22.
Hirschorn JN, Lohmueller K, Byrne E, Hirschorn K. A comprehensive review of genetic association studies. Genet Med 2002; 4(2): 45–61.
Hogarth S, Javitt G, Melzer D. The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues. Annu Rev Genom Hum Genet 2008; 9: 161–182.
Ioannidis JP. Common genetic variants for breast cancer: 32 largely refuted candidates and larger prospects. J Natl Cancer Inst 2006; 98(19): 1350–1353.
Janssens ACJW, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008; 82: 593–599. http://www.ajhg.org/AJHG/fulltext/S0002-9297(08)00145-6
Lee SH, van der Werf JHJ, Hayes BJ, et al. Predicting unobserved phenotypes for complex traits from whole-genome SNP data. PloS Genet 2008; 4(1): e1000231.
Maher B. The case of the missing heritability. Nature 2008; 456(6): 19–21.
Mayo O. The rise and fall of the common disease-common variant (CD-CV) hypothesis: how the sickle cell disease paradigm led us all astray (or did it?). Twin Res Hum Genet 2007; 10(6): 793–804.
Meigs JB, Shrader P, Sullivan LM, et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. New Engl J Med 2008; 359: 2208–2219.
Ntzani EE, Rizos EC, Ioannidis JP. Genetic effects versus bias for candidate polymorphisms in myocardial infarction: case study and overview of large-scale evidence. Am J Epidemiol 2007; 165(9): 973–984.
Ozdemir V, Kalow W, Tothfalusi L, et al.. Multigenic control of drug response and regulatory decision-making in pharmacogenomics: the need for an upper-bound estimate of genetic contributions. Curr Pharmaco 2005; 3: 53–71.
Pharoah PD, Tyrer J, Dunning AM, et al. Association between common variation in 120 candidate genes and breast cancer risk. PLoS Genet 2007 Mar 16; 3(3): e42.
SACGHS. US system of oversight of genetic testing: a response to the charge of the Secretary of Health and Human Services. Report of the Secretary’s Advisory Committee on Genetics, Health and Society. April 2008. http://www4.od.nih.gov/oba/SACGHS/reports/SACGHS_oversight_report.pdf
Slatkin, M. Exchangeable models of complex inherited diseases. Genetics 2008a; 179: 2253–2261.
Slatkin M. Genotype-specific recurrence risks and indicators of the genetic architecture of complex diseases. Am J Hum Genet 2008b; 83: 120–126.
Terwilliger JD, Weiss KM. Confounding, ascertainment bias, and the blind quest for a genetic ‘fountain of youth’. Ann Med 2003; 35: 532–544.
US GAO. Nutrigenetic testing: tests purchased from four websites mislead consumers. Testimony before the Special Committee on Ageing, US Senate. Statement of Gregory Kutz, Managing Director Forensic Audits and Special Investigations. 27th July 2006.
Wallace HM. A model of gene-gene and gene-environment interactions and its implications for targeting environmental interventions by genotype. Theor Biol Med Model 2006; 3(35): doi: 10.1186/1742-4682-3-35. http://www.tbiomed.com/content/3/1/35
Wallace HM. Most gene test sales are misleading. Nat Biotech 2008; 26(11): 1221.
Wallace HM. Big tobacco and the human genome: driving the scientific bandwagon? Genomics, Science and Policy 5(1), 1–54.
Zeggini E, Weedon MN, Lindgren CM, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007; 316: 1136–1341.
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Wallace, H. (2010). Direct to Consumer Testing. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_20
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DOI: https://doi.org/10.1007/978-90-481-3919-4_20
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