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

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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. 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. 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. 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.

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Author information

Authors and Affiliations

  1. School of Medical Genetics, Cardiff University, Cardiff, Wales, UK

    Paula Boddington

  2. Cardiff School of Journalism, Media and Cultural Studies, Cardiff University, Cardiff, Wales, UK

    Susan Hogben

  3. CESAGen, 6 Museum Place, Cardiff, CF10 3BG, Wales, UK

    Paula Boddington

Authors
  1. Paula Boddington
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  2. Susan Hogben
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Corresponding author

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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