2008 Brain Star Award Recipient - Yvonne Bombard
Recipient
Yvonne Bombard - Biosketch
Post-Doctoral Fellow
University of Toronto
Article
Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease. Bombard Y, Penziner E, Suchowersky O, Guttman M, Paulsen JS, Bottorff JL, Hayden MR.. European Journal of Human Genetics (2008) 16, 279–289; doi:10.1038/sj.ejhg.5201937; published online October 24, 2007
Significance of the paper
The findings of this paper provide a timely contribution to the ethical, legal and social implications (ELSI) produced by genetic testing, and stigma or genetic discrimination (GD) in particular. Since the beginning of the Human Genome Project and HapMap Project the investigation of ELSI issues has been recognized as an integral process of the development, testing and implementation of genomic advances.
Unfortunately, Huntington disease (HD) – a devastating neuropsychiatric genetic disease - is only a microcosm of the global realities of GD since the issue extends to other genetic and non-disease groups as well as to the general population, both of which have expressed significant fear of participating in genetic testing and genetic research.
If the pace of scientific discovery is to continue and if society is to benefit from the potential diagnostic and treatment advances from genomics research, then the realities of GD must be investigated so as to advance crucial policies aimed to protect individuals from GD. The findings of this study address these gaps and provide substantial evidence of GD. This paper presents the results of the qualitative study which offers an understanding of the issue from the perspective of persons at-risk for HD: the target of GD and contributed to the description of strategies used to manage the risk and experience of GD). Integrating these findings into practice and policy changes will likely contribute towards the ultimate goal of eradicating unfair discrimination on the basis of the most fundamental thing: our genes.