I have the gene, but I don't have Huntington disease: negotiating genetic risk

Abstract

In the emerging risk society (Beck, 1992), healthy bodies, rather than the sick or diseased, are the focus of medical attention. Nowhere is this more evident than in the field of predictive genetic testing. Few empirical studies of predictive testing have explored the everyday reality of living at risk for a fatal inherited disorder. Fewer still have focused on those already living with such a disorder and their caregivers. Drawing upon 24 semi-structured interviews with at-risk persons and their family members, this study examined the implications of living at risk for, or with, the adult-onset disorder, Huntington disease (HD). Qualitative data analysis revealed that genetic risk was not understood or retained as an objective numerical fact, much as it is constructed so by Mendelian genetics. Rather, genetic risk for HD was re-conceptualized as an index of threat to self and other family members. Discussion about genetic risk for HD was infused with emotions and moral undertones; the latter reflected a felt obligation to other family members. As such, decisions around genetic risk were sometimes constrained by perceived responsibility to others in the family. Living with risk for HD or with the illness itself had noticeable effects on self-identity and relationships with others. While the response of social others was often sympathy, perceived stigma did exist in relation to HD, affecting communication about the illness and sometimes restricting social behavior. Implications for research and clinical practice are discussed.