Adults seeking presymptomatic gene testing for Huntington disease

Abstract

Purpose: To describe the expectations of those seeking presymptomatic gene testing for Huntington disease (HD). Identification of the gene for HD makes it possible to conduct testing to determine if a healthy person with a family history of HD has a mutation in this gene. Presymptomatic gene testing reveals the likelihood that a person will develop an inherited disease in the future. Understanding expectations allows for more complete assessment and counseling before presymptomatic gene testing for genetic diseases.

Design: Descriptive qualitative. The population was people with a family history of HD. The sample was 17 asymptomatic adults with a positive family history of HD who requested presymptomatic gene identification at one tertiary genetic counseling program, 1995 to 1996.

Methods: Semi-structured interviews concerning expectations of adults seeking presymptomatic genetic testing were conducted by telephone. Interviews occurred after the individuals had requested presymptomatic gene identification but before results were reported. Content analysis was used to identify the expectations and questions of those who had decided to seek presymptomatic testing.

Findings: Common expectations included anticipating relief from uncertainty, hoping to plan for their future health care and life decisions, wanting to know if their children were at risk of developing HD, anticipating loss of family support from relatives, expecting relief from self monitoring, venturing into the unknown, and planning for disclosure. Participants attempted to avoid their loss of genetic privacy by withholding the decision to seek testing from their primary care providers.

Conclusions: Participants seeking presymptomatic HD gene testing consider the effect of gene identification on themselves and their families. A desire to limit insurance or employment discrimination contributes to subjects not seeking input from health care providers in their decision making.