Intended for healthcare professionals

Research

Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey

BMJ 2009; 338 doi: https://doi.org/10.1136/bmj.b2175 (Published 10 June 2009) Cite this as: BMJ 2009;338:b2175
  1. Yvonne Bombard, postdoctoral fellow15,
  2. Gerry Veenstra, associate professor2,
  3. Jan M Friedman, professor1,
  4. Susan Creighton, genetic counsellor and clinical assistant professor1,
  5. Lauren Currie, research assistant1,
  6. Jane S Paulsen, professor3,
  7. Joan L Bottorff, professor and director4,
  8. Michael R Hayden, Canada Research chair in Human Genetics and Molecular Medicine, University Killam professor1
  9. the Canadian Respond-HD Collaborative Research Group
  1. 1Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada (institution where the research was conducted)
  2. 2Department of Sociology, University of British Columbia, Vancouver, BC, V6T 1Z1, Canada
  3. 3Departments of Psychiatry, Neurology, Psychology and Neurosciences, University of Iowa, Iowa City, Iowa, 52242, USA
  4. 4Faculty of Health and Social Development, Institute of Healthy Living and Chronic Disease Prevention, University of British Columbia Okanagan, Kelowna, BC, V1V 1V7, Canada
  5. 5Department of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, M5T 3M6, Canada
  1. Correspondence to: M R Hayden mrh{at}cmmt.ubc.ca
  • Accepted 10 February 2009

Abstract

Objective To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington’s disease who had undergone genetic testing or remained untested.

Design Cross sectional, self reported survey.

Setting Seven genetics and movement disorders clinics servicing rural and urban communities in Canada.

Participants 233 genetically tested and untested asymptomatic people at risk for Huntington’s disease (response rate 80%): 167 underwent testing (83 had the Huntington’s disease mutation, 84 did not) and 66 chose not to be tested.

Main outcome measures Self reported experiences of genetic discrimination and related psychological distress based on family history or genetic test results.

Results Discrimination was reported by 93 respondents (39.9%). Reported experiences occurred most often in insurance (29.2%), family (15.5%), and social (12.4%) settings. There were few reports of discrimination in employment (6.9%), health care (8.6%), or public sector settings (3.9%). Although respondents who were aware that they carried the Huntington’s disease mutation reported the highest levels of discrimination, participation in genetic testing was not associated with increased levels of genetic discrimination. Family history of Huntington’s disease, rather than the result of genetic testing, was the main reason given for experiences of genetic discrimination. Psychological distress was associated with genetic discrimination (P<0.001).

Conclusions Genetic discrimination was commonly reported by people at risk for Huntington’s disease and was a source of psychological distress. Family history, and not genetic testing, was the major reason for genetic discrimination.

Footnotes

  • We thank the families who made this study possible by sharing their experiences with us. We thank the members of the Hayden laboratory for insightful discussions and critical reading of this manuscript.

  • Contributors: YB and MRH participated in the conception, development, analysis, and writing of this manuscript (and act as guarantors of the paper). YB led the overall implementation of the study, including data collection, recruitment and analysis. JMF participated in the development and interpretation of the study. SC and JSP participated in the design and recruitment of the study. GV and JLB participated in research design, questionnaire creation, data analysis, and writing of the manuscript. LC participated in the coordination of the project as well as data entry and management. YB and MRH had access to all the data in the study and take full responsibility for the integrity of the data and accuracy of the data analysis.

  • The contributors of the Canadian Respond-HD collaborative research group, who participated in the recruitment and administration of the survey, are : Mark Guttman and Christine Giambattista, Centre for Movement Disorders, Markham, Ontario; Mark Ludman, Jill Murphy, and Tina Babineau-Sturk, IWK Health Centre, Halifax, Nova Scotia; Patrick MacLeod and Jennifer Rice, Victoria General Hospital, Victoria, British Columbia; Wayne Martin and Marguerite Wieler, University of Alberta, Edmonton, Alberta; Wendy Meschino and Clare Gibbons, North York General Hospital, Toronto, Ontario; Lynn Raymond and Joji Decolongon, University of British Columbia, Vancouver, British Columbia; Oksana Suchowersky and Mary-Lou Klimek, University of Calgary, Calgary, Alberta.

  • Funding: Funding for this project from the Canadian Institutes of Health Research (CIHR) was received by MRH and JLB. Supplemental funding from the National Institutes of Health and the National Institute of Neurological Disorders and Stroke was awarded to JSP (No 3 R01 NS040068). YB was supported by the CIHR, the Michael Smith Foundation for Health Research, and the Child and Family Research Institute. None of these funding agencies played any role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the article for publication.

  • Competing interests: None declared.

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

View Full Text