Reluctance to undergo predictive testing: The case of Huntington Disease

Abstract

The development of a presymptomatic test for Huntington Disease (HD) has enabled some persons at risk to determine whether or not they are gene carriers. The purpose of this study was to explore the reasons why those at risk choose not to be tested in a situation where testing is available and most of the test-associated costs are covered by state funding. Subjects were also asked their levels of knowledge about testing, attitudes towards aspects of the testing protocols, and intentions towards testing once the gene for HD is found. Sixty-six individuals at risk for HD who had chosen not to be tested completed a mailed questionnaire. The most important reasons for not being tested were increased risk to children if one was found to be a gene carrier, absence of an effective cure, potential loss of health insurance, financial costs of testing, and the inability to "undo" the knowledge. Individuals comprising this sample were quite knowledgeable about predictive testing. Most supported the availability of testing despite the lack of a cure, the need for special counseling prior to testing, and the idea that testing should be a voluntary decision. Most said they would take the test if a treatment was available, if the mechanics of the test were simplified, or if the test was 100% accurate. The risk to relatives, lack of treatment or cure, fear of losing one's health insurance, and the accuracy of the information to be gained from testing are important factors in the decision not to be tested.

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease

“…First and foremost, participants who take part in research studies may be a self-selected group 37 that differs from individuals who decline to participate in terms of their perspectives and experiences of GD. Given that GD is one of the reasons individuals at risk for HD do not participate in predictive testing, 8 it is possible that we have not fully captured at-risk persons' experiences and concerns for discrimination. As a consequence of our sampling and time frame for recruitment, only one man was available and volunteered to participate in our study.…”

“…7,24 The characteristics of our untested sample appear similar to individuals who choose not to test, although they are more educated. 8 Concerns and experiences of GD In the course of discussions about GD, participants spoke about their concerns and experiences in a pensive manner, yet with a tone of conviction. At times, non-verbal cues such as hand-gesturing and shifting in their seats were evident among some individuals, suggesting some discomfort with this potentially sensitive topic.…”

“…7 The most frequently cited reasons for declining predictive testing have been the absence of a cure, concerns about coping and the fear of genetic discrimination (GD). 8 GD refers to the perceived differential treatment of individuals or their family members based on presumed or actual genetic differences rather than physical characteristics. 9 Although considerable debate surrounds the existence of GD in the context of HD, 10 there is a paucity of research on the nature and experiences of GD among this community.…”

Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia

“…[41][42][43][44][45] However, few have considered those who commence testing but withdraw without learning their genetic status, except in relation to the testing of those at 25% risk. 15,[45][46][47][48] Although we cannot specifically address the reasons for withdrawal because of the retrospective nature of the study, we attempted to profile the members of this group.…”

Genetic susceptibility testing versus family history–based risk assessment: Impact on perceived risk of Alzheimer disease

“…23 It is important to note, however, that interest in predictive testing often does not translate into actual test uptake, as was seen in the case of Huntington disease. 24 The nature of the information presented as part of the risk assessment, as well as how the information was communicated by the genetic counselors, may have also contributed to participants' favorable perceptions of genetic information. The genetic counselors informed all individuals during the disclosure session that the numeric risk estimate was derived from population studies and also stressed that it was an approximation and not an exact number; therefore, some participants in both subgroups may have discounted the risk estimate.…”