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Editorials

Genetic discrimination in Huntington’s disease

BMJ 2009; 338 doi: https://doi.org/10.1136/bmj.b1281 (Published 10 June 2009) Cite this as: BMJ 2009;338:b1281
  1. Aad Tibben, professor of psychology of clinical genetics
  1. 1Leiden University Medical Centre, PO Box 9600, Leiden, 2300 RC, Netherlands
  1. a.tibben{at}lumc.nl

    Is more often related to family history than genetic testing

    Predictive testing for Huntington’s disease was introduced in the late 1980s. It was offered reluctantly, however, because of the lack of treatment available for identified gene carriers and the potential for genetic discrimination—that is, the unfair and inappropriate treatment of a person or group on the basis of genetic information. In the linked cross sectional survey (doi:10.1136/bmj.b2175), Bombard and colleagues assess the nature and prevalence of genetic discrimination in a cohort of asymptomatic genetically tested and untested people at risk for Huntington’s disease.1

    Genetic testing gives people at risk the opportunity to take more responsibility and control over their lives, their health, and their future. Aren’t these major aims in health care? In general, the test brings relief from uncertainty and more control over people’s future lives,2 and no serious adverse consequences have been reported.3

    International guidelines on genetic testing for Huntington’s disease have been used as a template for testing programmes for many other hereditary conditions.4 Predictive testing and confirmative diagnosis by testing for mutations are now widely accepted in most medical specialties. The potential for genetic discrimination has been described extensively, but verified case reports are scarce.5 Some anecdotal instances of genetic discrimination have occurred, including one of a genetically untested woman in Germany who was refused employment as a teacher because of a family history of Huntington’s disease, which received worldwide publicity.6

    Bombard and colleagues surveyed 233 genetically tested and untested asymptomatic people at high risk of Huntington’s disease in Canada. They found that 40% of the respondents had concerns about genetic discrimination.1 However, having a family history of Huntington’s disease, not genetic testing, was the main reason for genetic discrimination. This agrees with an Australian survey, which showed that only 10% of people attending clinical genetics services reported incidents of alleged negative treatment associated with the results of genetic testing, with most of these incidents being related to insurance.7 Fortunately, many countries have adopted legislation or made other arrangements to prevent or discourage the misuse of genetic information for employment and insurance purposes; for example, in May 2008 the United States brought into force the genetic non-discrimination act.

    In the Netherlands, clinical geneticists discuss employment and insurance with the client in the pretest counselling sessions, but only a few clients are concerned that genetic information may be used by insurers to deny, limit, or cancel health insurance, and by employers to discriminate in the workplace.8 If appropriate, people arrange their affairs with regard to insurance and employment before the test results are disclosed to them. Moreover, most people find that concerns about employment and insurance are of minor importance compared with the main reasons for testing. People mainly want to be tested to find out if they are at risk of developing the disease and passing the mutation on to future offspring. If the test is positive they can then opt for preventive management options such as in the case of hereditary forms of cancer or cardiovascular disease.

    One of the most intriguing findings in the self reports of genetic discrimination relates to the perception of discrimination within the family and social relationships, and the association with family history. In this context perception may deviate from reality. Huntington’s disease profoundly affects family members, and has usually impinged on family life over more than one generation. This frame of reference certainly influences the perception of the disease, and the recall and perception of emotional or even traumatic experiences, and it may subsequently affect reports of genetic discrimination.

    Clinical experience shows that people may project their fears and anger on to others. The child of a father who developed Huntington’s disease half way through his professional career may have witnessed his increasing problems at the workplace and his subsequent reactions of annoyance and shame. But the child may also have noticed the father’s denial, his unwillingness to make adjustments with regard to the content of work, and his rejection of the employer’s support and efforts to make appropriate adjustments. Strong feelings of loyalty towards the father may result in the perception of discrimination. More insight is therefore needed into the dynamics of family and social discrimination.

    We also need to verify the prevalence of genetic discrimination in relation to employment, insurance, and social relationships.5 Bombard and colleagues rightly argue that legislation cannot be used to regulate interactions within social relationships. But the question of how to deal with this remains unanswered. The authors suggest that education and support programmes might help. In addition, better insight into the psychodynamics of genetic discrimination might lead to the development of appropriate intervention strategies.

    Clinical geneticists and lay organisations must also continuously educate employers, insurance companies, politicians, policy makers, and the general public about the mechanisms and effects of genetic discrimination.

    Notes

    Cite this as: BMJ 2009;338:b1281

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