The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation

Abstract

The aim of this study was to describe reproductive decisions in mutation carriers after predictive testing for Huntington's disease (HD) and to identify factors that play a role in decision-making. In -2004 individuals received a predictive test result; 89 of them were carriers and seven received an equivocal result. Quantitative data on reproductive behaviour have been collected during all follow-up contacts. The follow-up time in this study was 1-16 years (mean: 7.1 years). Qualitative data on reproductive decisionmaking have been collected by the means of semistructured interviews during the 5-year follow-up study. For 46 carriers and two persons with an equivocal result, family planning was one of the motives for predictive testing. In this group, slightly more than half of the carriers (58%) had chosen to have children with prenatal diagnosis or preimplantation genetic diagnosis and about one in three (35%) decided to have no children anymore after the test. A minority (7%) was undecided or had no children for other reasons. Factors playing a role in the decision-making process were the carrier's sex, ethical issues about PD and PGD, the strength of the desire to have children, illness representations including personal experiences with HD in the family and the technological imperative. Some of these elements were in conflict and induced ambivalence towards reproductive choices. The results illustrate the complexity of the decision-making process and the necessity of in-depth counselling. Counselling should pay special attention to conflicting values and beliefs and to all kinds of pressure.

Personal Factors Associated with Reported Benefits of Huntington Disease Family History or Genetic Testing

“…This study added new findings of benefits, beyond family closeness (Vamos et al, 2007), from those who had not undergone testing at the time of enrollment in the parent study, but who had a family history of HD. Those who had completed genetic testing endorsed benefits previously reported, including relief from uncertainty of one's gene status, appreciation for the present, acquiring significant life knowledge, making future plans, and reproductive decisions (Bloch et al, 1992;Decruyenaere et al, 2004Decruyenaere et al, , 2007Taylor, 2004;Duncan et al, 2008). The benefits included topics that are similar to those reported from qualitative descriptive studies.…”

“…This category pertains to planning that was important to the person and his/her family, and included reproduction, work or retirement, finances for family after the person has died, and planning on behalf of their children. This category may overlap with benefits previously reported that include reproductive decisions (Decruyenaere et al, 2007) as well as more general comments in the literature related to significant life knowledge. One example in this category was regarding reproduction: ''My husband and I decided not to have children'' (10GT,F).…”

“…People who decide to have predictive testing may be less likely to question their abilities to cope if problems arise (Codori et al, 1994;Meiser and Dunn, 2000). Benefits of genetic testing include knowing one's genetic status, having an increased appreciation for the present, having information for reproductive decisions, and acquiring significant life knowledge (Bloch et al, 1992;Decruyenaere et al, 2004Decruyenaere et al, , 2007Taylor, 2004). After completing genetic testing, some people with positive or negative results report starting new relationships, and some who are in a partner relationship report increased communication and support from partners (Decruyenaere et al, 2004).…”

“To perpetuate blindness!”: attitudes of UK patients with inherited retinal disease towards genetic testing

“…Indeed, closely related was the opinion that the most important advantage of genetic testing was prevention of occurrence by not having children. Such an opinion was also found among those affected by Huntington's disease (Decruyenaere et al 2007). …”

“…At first glance, our participants echoed those affected by Huntington's disease who appreciated genetic tests as a ground for their decisions about planning their future (Taylor 2004;Decruyenaere et al 2007). However, when asked for practical examples of planning for visual disability, our participants could recall only a very limited number of practical examples, and found such a notion "ridiculous".…”