A considerable body of research has explored both predictive genetic test decisions for Huntington disease (HD) and the impact of receiving a test result. Extant research reveals little, however, about how and when at risk persons first discover their family history of HD. Drawing upon 24 semi-structured interviews with at risk persons and their family members, this study explored initial discovery of HD in the family. Qualitative data analysis revealed four different, though sometimes related, trajectories of discovery: (1) something is wrong, (2) out of the blue, (3) knowing, but dismissing, and 4) growing up with HD. These pathways highlighted the importance of the temporal and historical contexts in which genetic risk for HD was discovered. Notably, ignorance about HD was the most salient feature shaping participants’ narratives of discovery. Implications for research and clinical practice are discussed.
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Notes
Names and significant social details (e.g., number of children or siblings, exact ages) have been changed to protect participant anonymity.
Lori has since received a negative test result.
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ACKNOWLEDGMENTS
I am grateful to participants for their patience and trust. Without their generosity, such research would simply not be possible. I also thank represe ntatives from the provincial medical genetics clinic and the Huntington Society of Canada for their help with recruitment. The research presented in this article was generously supported by a doctoral fellowship from the Newfoundland and Labrador Centre for Applied Health Research and the Department of Psychology, Memorial University, both in St. John’s, NL. This research was part of the author's larger doctoral thesis on living with genetic risk for HD. During the writing of this article, the author was supported by a Postdoctoral Assistantship from the GeneSens research group, Department of Epidemiology and Community Medicine and the Gap Santé research group, National Institute of Population Health, both at the University of Ottawa, Ottawa, ON. The author thanks postdoctoral supervisors Dr. Brenda J. Wilson and Dr. Louise Lemyre for their support. I am also indebted to the editor and two anonymous reviewers for their excellent comments and suggestions which markedly improved earlier drafts of this article.
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Etchegary, H. Discovering the Family History of Huntington Disease (HD). J Genet Counsel 15, 105–117 (2006). https://doi.org/10.1007/s10897-006-9018-7
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DOI: https://doi.org/10.1007/s10897-006-9018-7