Working Up Policy: The Use of Specific Disease Exemplars in Formulating General Principles Governing Childhood Genetic Testing

Abstract

Non-therapeutic genetic testing in childhood presents a “myriad of ethical questions”; questions which are discussed and resolved in professional policy and position statements. In this paper we consider an underdiscussed but strongly influential feature of policy-making, the role of selective case and exemplar in the production of general recommendations. Our analysis, in the tradition of rhetoric and argumentation, examines the predominate use of three particular disease exemplar (Huntington’s disease, Tay-Sachs disease and sickle cell disease) to argue for or against particular genetic tests (predictive testing and testing for carrier status). We discuss the influence these choices have on the type and strength of subsequent recommendations. We argue that there are lessons to be drawn about how genetic diseases are conceptualised and we caution against the geneticisation of medical policy making.

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Notes

  1. 1.

    Genetic testing refers to the analysis of a specific gene, its product or function, or other DNA and chromosome analysis, to detect or exclude an alteration likely to be associated with a genetic disorder (Harper, 1997). Testing can be specifically distinguished from screening which is the same practice across populations.

  2. 2.

    The Human Genetics Commission (The UK Government’s advisory body on new developments in human genetics) has recently commissioned an analysis of its own consultative process.

  3. 3.

    We appreciate that the discursive nature of policy making is multi-modal [20]. We use the term writers here as we are dealing directly with printed documents.

References

  1. 1.

    American Academy of Pediatrics (2001) Ethical issues with genetic testing in pediatrics (RE9924). Pediatrics 107:1451–1455

    Article  Google Scholar 

  2. 2.

    American Medical Association (1996) Genetic testing of children (Policy, E-2.138) December, 2002 at http://www.ama-assn.org

  3. 3.

    American Society of Human Genetics and American College of Medical Genetics (1995) Points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents. Am J Human Genet 57:1233–1241

    Google Scholar 

  4. 4.

    Beauchamp TL, Childress JF (1994) Principles of biomedical ethics, 4th edn. Oxford University Press

    Google Scholar 

  5. 5.

    Belgian Society of Human Genetics (2003) Guidelines for predictive genetic testing for late onset disorders. November 2003 at http://www.beshg.be/Pages/guidelines.html

  6. 6.

    Billig M (1996) Arguing and thinking: a rhetorical approach to social psychology. Cambridge University Press

    Google Scholar 

  7. 7.

    Canadian Pediatric Society (2003) Guidelines for genetic testing of health children (B 2003-01). Paediatr Child Health 8(1):42–45

    Google Scholar 

  8. 8.

    Chambers T (1999) The fiction of bioethics. Routledge, New York

    Google Scholar 

  9. 9.

    Charrow J (2004) Ashkenazi Jewish genetic disorders. Familial Cancer 3:201–206

    PubMed  CAS  Article  Google Scholar 

  10. 10.

    Clarke AJ, Flinter F (1996). The genetic testing of children: A clinical perspective. In Marteau TM, Richards MPM (eds), The troubled helix: social and psychological implications of the new human genetics. Cambridge University Press, Cambridge, pp 164–176

    Google Scholar 

  11. 11.

    Clinical Genetics Society (1994) The genetic testing of children: report of a working party of the clinical genetics society (UK). Med Genet 31:785–797

    Google Scholar 

  12. 12.

    Cohen CB (1998). Moving away from the Huntington’s disease paradigm in the predictive genetic testing of children. In Clarke AJ (Ed.), The genetic testing of children. Bios Scientific Publishers, Oxford, pp 133–143

    Google Scholar 

  13. 13.

    Edmondson R (1984) Rhetoric in sociology. Macmillan, London

    Google Scholar 

  14. 14.

    Edwards D (2000) Extreme case formulations: softeners, investment and doing nonliteral. Res Lang Soc Interact 33(4):347–373

    Article  Google Scholar 

  15. 15.

    Fischer F, Forester J (1993). Editor’s introduction. In Fischer F, Forester J (Ed.), The argumentative turn in policy analysis and planning. Duke University Press, Durham and London, pp 1–17

    Google Scholar 

  16. 16.

    Foucualt M (1972) The archaeology of knowledge. Routledge, London

    Google Scholar 

  17. 17.

    GIG (1995) Genetics interest group response to the UK clinical genetics society report “The Genetic Testing of Children”. J Med Genet 32:490–491

    Article  Google Scholar 

  18. 18.

    Gillam L (1997) Arguing by analogy in the fetal tissue debates. Bioethics 11(5):397–412

    PubMed  Article  Google Scholar 

  19. 19.

    Gillon R (1994) Medical ethics: four principles plus attention to scope. BMJ 309:184–8

    PubMed  CAS  Google Scholar 

  20. 20.

    Hajer M (1993) Discourse coalitions and the institutionalisation of practice: the case of acid rain in Britain. In Fischer F, Forester J (Eds.), The argumentative turn in policy analysis and planning. UCL Press, London

    Google Scholar 

  21. 21.

    Harper PS, Clarke AJ (1990) Should we test children for “Adult” genetic diseases? Lancet 305:1205–1206

    Article  Google Scholar 

  22. 22.

    Hastings A (1996) Unravelling the process of “Partnership” in urban regeneration policy. Urban Studies 33(2):253–268

    Article  Google Scholar 

  23. 23.

    Hogben S, Boddington P (2005) Policy recommendations for carrier testing and predictive testing in childhood: a distinction that makes a real difference. J Genet Couns 14:271–282

    Google Scholar 

  24. 24.

    Horsfall J, Cleary M (2000) Discourse analysis of an “Observation Levels” nursing policy. J Adv Nurs 32(5):1291–1297

    PubMed  CAS  Article  Google Scholar 

  25. 25.

    Jorde L Carey JC, Bamshad MJ, White RL (2000) Medical genetics, 2nd edn. Mosby, St Louis

    Google Scholar 

  26. 26.

    Kabach MM (2000) Population-based genetic screening for reproductive counselling: The Tay-Sachs disease model. Eur J Pediatr 159(Suppl 3):S192–S195

    Article  Google Scholar 

  27. 27.

    Lemke T (nd) Disposition and determinism—genetic diagnostics in risk society. Available September, 2004 at http://www.thomaslemkeweb.de/engl.%20texte/Disposition%20and%20Determinism.pdf

  28. 28.

    Lippmann A (1991) Prenatal genetic testing and screening: constructing needs and reinforcing inequities. Am J Law Med 15:15–50

    Google Scholar 

  29. 29.

    Macintyre S (1997) Social and psychological issues associated with the new genetics. Philos Trans R Soc Lond 352:1095–1101

    CAS  Article  Google Scholar 

  30. 30.

    Majone G (1989) Evidence, argument and persuasion in the policy process. Yale University Press, New Haven, CT

    Google Scholar 

  31. 31.

    Murphy P, Maynard ML (2000) Framing the genetic testing issue: Discourse and cultural clashes among policy communities. Sci Commun 22(2):133–153

    Google Scholar 

  32. 32.

    National Society of Genetic Counselors (1995) Resolutions ballot: prenatal and childhood testing for adult-onset disorders. National Society of Genetic Counselors, Wallingford, PA

    Google Scholar 

  33. 33.

    Prior P (1998) Writing/disciplinarity: a sociohistoric account of literate activity in the academy. Erlbaum, Mahwah, NJ

    Google Scholar 

  34. 34.

    Rein M, Schön D (1991) Frame-reflective discourse. In Wagner P, Weiss CH, Wittrock B, Wollmann H (Eds.), Social sciences and modern states. Cambridge University Press, Cambridge, pp 262–289

    Google Scholar 

  35. 35.

    Rein M, Schön DA (1993) Reframing policy discourse. In Fischer F, Forester J (Eds.), The argumentative turn in policy analysis and planning. Duke University Press, Durham and London, pp 145–166

    Google Scholar 

  36. 36.

    Rosch E (1975) Family resemblance: Studies in the internal structure of categories. Cogn Psychol 7:573–605

    Article  Google Scholar 

  37. 37.

    Ross LF, Moon MR (2000) Ethical issues in genetic testing of children. Arch Pediatr Adolesc Med 154:873–879

    PubMed  CAS  Google Scholar 

  38. 38.

    Rydin Y (1999) Can we talk ourselves into sustainability? The role of discourse in the environmental policy process. Env Values 8:467–484

    Google Scholar 

  39. 39.

    Taleff MJ, Babcock M (1998) Hidden themes: dominant discourses in the alcohol and other drugs field. Int J Drug Policy 9:33–41

    Article  Google Scholar 

  40. 40.

    Throgmorton J (1993) Planning as a Rhetorical Activity. J Am Plann Assoc 59(3):334–346

    Google Scholar 

  41. 41.

    Wexler NS (1992) The Tiresias Complex: Huntington’s disease as a paradigm of testing for late-onset disorders. Fed Am Soc Exp Biol J 6:2820–2825

    CAS  Google Scholar 

  42. 42.

    Wittgenstein L (1953) Philosophical investigations. Blackwell, Oxford

    Google Scholar 

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Correspondence to Paula Boddington.

 

 

Appendix

Genetic Conditions Used in Argumentation in the Data Number of Times
Adult Onset Blindness/Retinoblastoma 2  
Alpha-1 Antitrypsin Deficiency 1  
Alzheimer’s Disease 2  
Balanced Chromosomal Translocations 2  
Coronary Heart Disease 2  
Cystic Fibrosis 4  
Diabetes   2
Duchenne’s Muscular Dystrophy 2  
Familial Adenomatous Polyposis Coli 2  
Familial Hyperlipidema 1  
Fragile X   3
Friedreich’s Ataxia   1
Haemochromotosis   1
Haemoglobin Disorders 2  
Hereditary Cancers (incl BRCA1)* 6  
Hypertension 1  
Huntington’s disease 16  
Multiple Endocrine Neoplasia 1  
Myotonic Dystrophy   2
Neurofibromatosis   1
Phenylketonuria 1  
Polycystic Kidney Disease   2
Prion Dementia 2  
Sickle Cell   8
Tay Sachs   6
Von Hippel Landau Disease 1  
  1. *The hereditary cancers are primarily susceptibility tests and are not within the scope of this paper.

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Boddington, P., Hogben, S. Working Up Policy: The Use of Specific Disease Exemplars in Formulating General Principles Governing Childhood Genetic Testing. Health Care Anal 14, 1–13 (2006). https://doi.org/10.1007/s10728-006-0007-7

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Keywords

  • Genetic testing
  • Geneticisation
  • Huntington’s disease
  • Policy-making
  • Tay Sachs’ disease
  • Sickle cell disease
  • Stigma