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Analysis of the Reasons for Non-Uptake of Predictive Testing for Huntington’s Disease in Spain: A Qualitative Study

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Children of persons affected by Huntington’s disease (HD) have a 50% chance of inheriting the disease. Genetic testing in Spain is offered to individuals (presymptomatic test) or mothers of fetuses (prenatal) who run the risk of suffering from HD. The objective of this study is to analyze the factors that influence the decisions of adult children of persons affected with HD regarding predictive testing. A qualitative research methodology was used involving 4 focus groups (FGs) made up of adult children of persons with HD in different cities in Spain. The results of the study showed that over half of the focus group participants were inclined to decline genetic testing. The main explanatory determinants for taking or not taking the predictive test are: Maturity of the individual at risk, which was directly related to age; Ability to cope with a positive test result; Experience of living with HD sufferers; Information about testing and psychological support; Attitude of the family; Social visibility of genetic testing; Personality and temperament of each subject at risk of HD. These results imply that these factors should be analyzed in more detail in quantitative studies in order to help the Spanish Department of Health understand why some children of parents with HD decline genetic testing, so that they may and apply these data when creating specific policy regarding this issue.

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Acknowledgments

We express our heartfelt thanks to the Asociaciones de Corea de Huntington in Barcelona, Burgos, and Madrid and to the adult children of persons affected by Huntington’s disease who participated in the Focus Groups. We are grateful to Carlos Tadoro Pisonero, Noemi Sánchez Gracia, Ambrosio Sánchez Garcia, Julia Albarracín Pérez and Julian Benito-León for the reading and analysis of the transcriptions of the focus groups and to Keith Payne, Iñaki Vázquez and Judith Smith for the reading and translation of the transcriptions of the focus groups. Finally, we thank Elizabeth Nestor for her linguistic assistance and her excellent suggestions on this manuscript.

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The authors declare that have no conflict of interest.

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  1. Facultad de Ciencias Sociales (despacho 412), Campus Miguel de Unamuno, Avda Francisco Tomas y Valiente S/N, Universidad de Salamanca, 37007, Salamanca, Spain

    Jesús Rivera-Navarro

  2. Neurology Department, Hospital Universitario Burgos, Burgos, Spain

    Esther Cubo & Natividad Mariscal

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  1. Jesús Rivera-Navarro
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Correspondence to Jesús Rivera-Navarro.

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Rivera-Navarro, J., Cubo, E. & Mariscal, N. Analysis of the Reasons for Non-Uptake of Predictive Testing for Huntington’s Disease in Spain: A Qualitative Study. J Genet Counsel 24, 1011–1021 (2015). https://doi.org/10.1007/s10897-015-9840-x

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