What Were You Thinking?: Individuals at Risk for Huntington Disease Talk About Having Children
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Most of the research on reproduction in those at risk for Huntington Disease (HD) has focused on the impact of genetic testing on reproductive decision-making. The main goal has been to determine whether discovering one is a carrier of the HD mutation changes an individual’s or couple’s decision to start a family or to have more children. The purpose of this qualitative study was to examine reproductive decision-making in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. PHAROS (Prospective Huntington At Risk Observational Study) is a multi-site study that aims to establish whether experienced clinicians can reliably determine the earliest clinical symptoms of HD in a sample of individuals at 50% risk who have chosen not to pursue genetic testing. Data for this article were obtained from unstructured open ended qualitative interviews of a subsample of individuals participating in the PHAROS project. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative descriptive methods to construct and explore reproduction decision-making in three groups of people: 1) those who knew of their risk and decided to have children; 2) those who had children before they knew of their risk, and 3) those who chose not to have children based on their risk. We discuss the delicate balance health care professionals and genetic counselors must maintain between the benefits of providing hope and the dangers of offering unrealistic expectations about the time in which scientific advances actually may occur.
KeywordsGenetic disease Huntington disease Reproduction Reproductive decision-making
We would like to express our gratitude to the PHAROS participants who so generously gave of their time in order to make this work possible. This research was supported by a grant number 1RO1HG02449 received from the Ethical, Legal and Social Implications Program of the National Human Genome Research Institute and the Indiana University School of Medicine GCRC Grant M01RR00750.
A full list of PHAROS investigators and coordinators can be found in Shoulson et al. (2006). At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled. Archives of Neurology, 63: 991–998.
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