What were you thinking?: individuals at risk for Huntington Disease talk about having children.

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.

Living at risk: concealing risk and preserving hope in Huntington disease.

Much of the qualitative research on Huntington disease has focused on the genetic testing aspects of HD. The overall purpose of this qualitative study was to gather information about the everyday experience of living with the risk of developing Huntington disease in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. Data for this article was obtained from unstructured, open-ended qualitative interviews of a sample of people participating in the PHAROS study. PHAROS, the 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 Huntington disease in individuals at 50% risk for HD who have chosen not to undergo genetic testing. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative description to construct and explore two main themes: (1) careful concealment of risk as an act of self-preservation and (2) preserving hope.