Health Care Anal (2006) 14:1–13 DOI 10.1007/s10728-006-0007-7 ORIGINAL ARTICLE Working Up Policy: The Use of Specific Disease Exemplars in Formulating General Principles Governing Childhood Genetic Testing Paula Boddington · Susan Hogben Published online: 20 September 2006 C  Springer Science+Business Media, Inc. 2006 Abstract Non-therapeutic genetic testing in childhood presents a “myriad of ethical ques- tions”; 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 rec- ommendations. Our analysis, in the tradition of rhetoric and argumentation, examines the predominate use of three particular disease exemplar (Huntington’s disease, Tay-Sachs dis- ease 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. Keywords Genetic testing . Geneticisation . Huntington’s disease . Policy-making . Tay Sachs’ disease . Sickle cell disease . Stigma P. Boddington School of Medical Genetics, Cardiff University, Cardiff, Wales, UK S. Hogben Cardiff School of Journalism, Media and Cultural Studies, Cardiff University, Wales, UK P. Boddington () CESAGen, 6 Museum Place, Cardiff, CF10 3BG Wales, UK e-mail: BoddingtonP@cardiff.ac.uk Springer