Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease

Abstract

This paper reports accounts from people at-risk for, or affected by, Machado-Joseph disease, and their family members, about their decisions not to seek pre-symptomatic testing, therefore remaining (for the time) uninformed about their genetic status. We draw on individual and family semi-structured interviews with participants recruited through a national patient's association (n = 25). Qualitative thematic analysis revealed three main categories of accounts: (1) justifying the decision "not to know", because either no clinical benefit was expected or predictive knowledge was anticipated as psychologically burdensome;(2) prioritizing everyday life, maintaining hope and the goal of living a valid life; and (3) the wish to know: ambivalence and conflict within the family. Findings suggest the value of genetic information is often questioned when no effective treatment or cure is available; and that people have different tolerance thresholds for predictive information, and this impacts individuals within the family differently. We discuss this in the context of the making of "responsible" decisions, and of the tensions that may arise within families between the best interests or wishes of a person and those of other family members. We hope this will clarify the reasoning of those who opt for non-engagement with medical genetic services and, more specifically, pre-symptomatic testing. Further, we hope it will be relevant for the provision of genetic counselling and psychosocial support to such families.

Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late‐onset neurological diseases

“…In this process, they seemed to prioritize a set of social and relational values that go beyond physical health and control of disease, while attending to other dimensions of risk, such as the typical late-onset and gradual course of the disease and (mainly) the possibility of future treatments. This adds to previous research highlighting modes of reasoning and of action for understanding and operating upon genetic risks, at odds with biomedical orientations (Aureliano 2015;Carrieri et al 2016;Huniche, 2011;Mendes et al, 2019).…”

“…In this passage, K3 affirms he chose "not to know" his genetic status, therefore avoiding the kind of imperatives set by genetic knowledge (Mendes et al, 2019;Taylor, 2004). This also highlights a sense of settled fatalism.…”

“…This exploratory, qualitative study was drawn from a larger study examining processes of communication about genetic risks in families affected by LONDs (Mendes et al, 2017(Mendes et al, , 2019. We present here the sub-corpus of data relating to participants' accounts about reproduction, a relevant theme that emerged during that analysis.…”

From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation

“…Despite all, one advantage for SCA3 patients is the possibility of initiating treatment presymptomatically, because genetic testing can be performed [6]. In fact, previous work has highlighted that patients would be more likely to undergo presymptomatic genetic testing if treatment was available [264]. Therefore, drugs and devices that translate to patients should be thoroughly selected based not only on their efficiency but also on how realistic their use can be.…”

A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial

“…Most relatives probably only ask for a referral for genetic counselling if they already decided in favour of DNA-testing, as supported by the fact that almost all the counselled relatives in this and previous studies pursued DNAtesting [4,8]. Only limited research has addressed decision-making of at-risk relatives not attending genetic counselling, and knowledge obtained by previous research was mostly collected indirectly (i.e., through probands or relatives who did attend genetic counselling) [31]. It is important to gain insight into decision-making of relatives not attending genetic counselling and into the potential barriers they face, e.g., consequences for health insurance.…”