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Captious certainties: makings, meanings and misreadings of consumer-oriented genetic testing

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Abstract

Members of the scientific and medical communities concerned with genetic testing might wonder, why cultural and ethical analyses of genetic testing are increasing again, especially since legal frameworks have, by now, come to provide more solid grounds for the routine application of genetic testing on both levels of application, diagnostics, and prediction. This contribution aims to shed light on the changing concept of genetic testing as it is raised by novel cultural practices and perceptions mainly triggered by direct-to-consumer predictive testing, including the phenomenon of a new genetic exceptionalism “from below”. We are seeking to determine what is at stake in this practice and what consequences arise from it for the medical and scientific community. What exactly happens as we move from diagnostic to prognostic medicine? Above all, this article pivots on the notion of captious certainties, a concept, which we will elaborate on as our argument progresses.

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References

  • Bloss CS, Wineinger NE, Darst BF, Schork NJ, Topol EJ (2013) Impact of direct-to-consumer genomic testing at long term follow-up. J Med Genet 50:393–400

    Article  PubMed  Google Scholar 

  • Borry P, van Hellemondt RE, Sprumont D, Jales CF, Rial-Sebbag E, Spranger TM, Curren L, Kaye J, Nys H, Howard H (2012) Legislation on direct-to-consumer genetic testing in seven European countries. Eur J Hum Genet 20:715–721

    Article  PubMed  Google Scholar 

  • Collins FS (1999) Shattuck lecture—medical and societal consequences of the human genome project. New Engl J Med 341:28–37

    Article  CAS  PubMed  Google Scholar 

  • Duttge G, Engel W, Zoll B (ed) (2011) Das Gendiagnostikgesetz im Spannungsfeld zwischen Humangenetik und Recht. Niedersächsische Staats- und Universitätsbibliothek, Göttingen

  • Eisen A, Weber BL (2001) Prophylactic mastectomy for women with BRCA1 and BRCA2 mutations—facts and controversy. New Engl J Med 345:207–208

    Article  CAS  PubMed  Google Scholar 

  • Euhus DM, Leitch AM, Huth JF, Peters GN (2002) Limitations of the gail model in the specialized breast cancer risk assessment clinic. Breast Journal 8:23–27

    Article  PubMed  Google Scholar 

  • Feuer E, Wun L, Boring C, Flanders W, Timmel M, Tong T (1993) The lifetime risk of developing breast cancer. J Natl Cancer I 85:892–897

    Article  CAS  Google Scholar 

  • Gail MH, Greene MH (2000) Gail model and breast cancer. Lancet 355(9208):1017

    Article  CAS  PubMed  Google Scholar 

  • Gendiagnostikgesetz (2009) https://www.eshg.org/fileadmin/www.eshg.org/documents/Europe/LegalWS/Germany_GenDG_Law_German_English.pdf

  • Goldsmith L, Jackson L, O’Connor A, Skirton H (2013) Direct-to-consumer genomic testing from the perspective of health professional: a systematic review of the literature. J Community Genet 4:169–180

    Article  PubMed Central  PubMed  Google Scholar 

  • Gollust SE, Chandros S, Wilfond BS (2002) Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA 288:1762–1767

    Article  PubMed  Google Scholar 

  • Hogarth S (2010) Myths, misconceptions and myopia. searching for clarity in the debate about the regulation of consumer genetics. Public Health Genomics 13:322–326

    Article  CAS  PubMed  Google Scholar 

  • Howard HC, Borry P (2011) Users’ motivation to purchase direct-to-consumer genome-wide testing: an exploratory study of personal stories. J Community Genet 2:135–146

    Article  PubMed Central  PubMed  Google Scholar 

  • Howard HC, Borry P (2012) Is there a doctor in the house? The presence of physicians in the direct-to-consumer genetic testing context. J Community Genet 3:105–112

    Article  PubMed Central  PubMed  Google Scholar 

  • Howard HC, Borry P (2013) Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing. Genome Medicine 5:45. doi:10.1186/gm449

    Article  PubMed Central  PubMed  Google Scholar 

  • Kollek R (2012) Individualisation of medicine: medical philosophy and societal implications of an ambiguous guiding principle. Z Evid Fortbild Qual Gesundhwes 106:40–45. doi:10.1016/j.zefq.2011.12.019

    Article  PubMed  Google Scholar 

  • Kollek R, Lemke T (2008) Der medizinische Blick in die Zukunft. Gesellschaftliche Implikationen der prädiktiven Medizin. Campus, Frankfurt am Main

  • Kuschel B, Lux MP, Goecke TO, Beckmann MW (2000) Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer. Eur J Cancer Prev 9:139–150

    Article  CAS  PubMed  Google Scholar 

  • Lemke T, Kollek R (2011) Hintergründe, Dynamiken und Folgen der prädiktiven Diagnostik. In: ViehöverW, Wehling P(ed) Entgrenzung der Medizin. Von der Heilkunst zur Verbesserung des Menschen? transcript, Bielefeld:157–188.

  • Lerman C, Hughes C, Lemon SJ, Main D, Snyder C et al (1998) What you don’t know can hurt you: adverse psychologic effects in members of brca1-linked families who decline genetic testing. J ClinOncol 16:1650–1654

    CAS  Google Scholar 

  • MacKarem G, Roche CA, Hughes KS (2001) The effectiveness of the gail model in estimating risk for development of breast cancer in women under 40 years of age. Breast Journal 7:34–39

    Article  CAS  PubMed  Google Scholar 

  • Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT, Seynaeve C, Tilanus-Linthorst MM, Wagner A, Dukel L, Devilee P, van den Ouweland AM, van Gee AN, Klijn JG (2000) Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet 355:2015–2020

    Article  CAS  PubMed  Google Scholar 

  • Nelkin D, Lindee MS (1995) The DNA mystique: the gene as a cultural icon. Freeman, New York

    Google Scholar 

  • Paul NW (2004) Societal implications of a wide-spread predictive testing for hereditary tumors. J Cancer Res Clin 130(Supp.1):26

    Google Scholar 

  • Paul NW (2005) Public health genetics in Germany: Pandora’s perils or Panakeia’s promise? Personalized Medicine 2:170–172

    Google Scholar 

  • Paul NW (2010) Ziele, Risiken und Nutzen der individualisierten Medizin: Überlegungen zur ethischen und sozialen Rechtfertigbarkeit. In: Niederlag W, Lemke HU, Golubnitschaja O, Rienhoff O (eds) Personalisierte Medizin. Health Academy, Dresden, pp 333–344

    Google Scholar 

  • Paul NW, Ilkilic I (2009) Coming to grips with genetic exceptionalism: roots and reach of an explanatory model. Medicine Studies 1:131–142

    Article  Google Scholar 

  • Paul NW, Roses AD (2003) Pharmacogenetics and pharmacogenomics: recent developments, their clinical relevance and some ethical, social, and legal implications. J Mol Med-JMM 81:135–140

    Google Scholar 

  • Sloan P (ed) (2000) Controlling our destinies. Historical, philosophical, ethical and theological perspectives on the Human Genome Project. University of Notre Dame Press, Notre Dame/Indiana

  • Starr P (1984) The social transformation of american medicine: the rise of a sovereign profession and the making of a vast industry. Basic Books, New York

    Google Scholar 

  • Tartter PI, Gajdos C, Rosenbaum Smith S, Estabrook A, Rademaker AW (2002) The prognostic significance of gail model risk factors for women with breast cancer. Am J Surg 184:11–15

    Article  PubMed  Google Scholar 

  • Vayena E, Gourna E, Streuli J, Hafen E, Prainsack B (2012) Experiences of early users of direct-to-consumer genomics in Switzerland: an exploratory study. Public Health Genomics 15:352–362

    Article  CAS  PubMed  Google Scholar 

  • Wohl S (1984) The medical industrial complex. Harmony Books, New York

    Google Scholar 

Download references

Conflict of interest

The authors declare that they have no conflict of interests. This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany

    Norbert W. Paul & Susanne Michl

  2. Johannes Gutenberg University Mainz, Mainz, Germany

    Mita Banerjee

Authors
  1. Norbert W. Paul
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  2. Mita Banerjee
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  3. Susanne Michl
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Correspondence to Norbert W. Paul.

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This article is part of the special issue on Predictive Testing

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Paul, N.W., Banerjee, M. & Michl, S. Captious certainties: makings, meanings and misreadings of consumer-oriented genetic testing. J Community Genet 5, 81–87 (2014). https://doi.org/10.1007/s12687-013-0172-y

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  • DOI: https://doi.org/10.1007/s12687-013-0172-y

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