A qualitative synthesis on the impact of predictive genetic testing for Huntington’s Disease, and an empirical study exploring family members’ lived experiences of Huntington’s Disease

Gates, Chloe 2025. A qualitative synthesis on the impact of predictive genetic testing for Huntington’s Disease, and an empirical study exploring family members’ lived experiences of Huntington’s Disease. ClinPsy Thesis, Cardiff University. Item availability restricted.

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Abstract

Paper 1 is a qualitative systematic review regarding the psychological and relational consequences of predictive genetic testing for Huntington’s Disease (HD). HD is an inherited, progressive neurological condition that profoundly affects both individuals and their families. Since the introduction of predictive genetic testing in 1993, people at risk have been able to find out with certainty whether they will develop the disease. While some view testing as an opportunity to prepare for the future, others experience emotional burden, identity disruption, or relational strain. Quantitative studies have often concluded that predictive testing has little long-term psychological impact. However, these studies may underestimate complexity by focusing on short follow-up periods and symptom-based measures. Qualitative research provides a richer, more nuanced picture, yet until now there has been no synthesis of this evidence. Searches were conducted across five databases to identify qualitative studies exploring the impact of predictive testing for HD. Fifteen studies (19 papers) involving 223 participants were included. The Critical Appraisal Skills Programme (CASP) was used to assess study quality. Data were analysed using thematic synthesis, leading to four overarching analytical themes. The first theme, Processing of test knowledge, captured how psychological adjustment is non-linear, evolving across the lifespan and shaped by meaning-making rather than test results alone. The second theme, Reverberations of testing in family life, highlighted the relational impact of testing, including both strengthened bonds and significant fractures within families. The third theme, Psychological strategies for holding steady, described coping approaches such as avoidance, living in the present moment, and maintaining stability. The fourth theme, Reconstructing the self and future, reflected shifts in identity, existential reflection, and decisions about relationships, reproduction, and life priorities. This review makes a significant contribution by showing that predictive testing is not a one-off event, but an ongoing, relational process with effects reverberating through family systems. Adjustment is shaped by appraisals, family dynamics, and contextual factors, rather than the binary outcome of a test. These findings suggest that clinical support should extend beyond individual test-takers, attending to systemic family needs and providing longer-term follow-up. By emphasising meaning-making and relational processes, this review offers new insight into how individuals and families live with genetic knowledge, with implications for improving genetic counselling and psychosocial care. Paper 2 is an empirical qualitative study exploring the lived experiences of family members of people with Huntington’s disease (HD). HD is an inherited, degenerative condition that profoundly affects both those directly affected and their relatives. Family members often provide care, manage uncertainty, and navigate shifting roles, yet their broader emotional and relational experiences have received limited research attention. The study aimed to address this gap through the research question: “What are the lived experiences of being a family member of a person with HD in Wales?” The study focused on how families make sense of and construct meaning through their experiences of HD. Meaning-making is increasingly recognised as essential to understanding adjustment to long-term conditions, and situating these experiences in a relational context advances the view of HD as a shared family phenomenon. Semi-structured interviews were conducted with family members in diverse roles, including spouses, parents, siblings, and adult children. Participants reflected on the meaning of HD in the family, emotional experiences, relationships, and perspectives on support. Data were analysed using interpretative phenomenological analysis (IPA), capturing both individual nuance and shared patterns. Analysis revealed five overarching themes reflecting the psychological and relational experiences of family members. Powerlessness in the Face of HD described pervasive uncertainty, fear, and helplessness shaping daily life and future outlooks. Family Bonds Under Pressure captured paradoxical dynamics: bonds provided strength but were strained by shifting roles and conflict. The Search for Safety highlighted the fragility of support systems, with families oscillating between feelings of abandonment and relief when help was appropriate. The Unseen Work of Care illuminated the quiet, emotional, and embodied labour of caregiving, including vigilance, grief, guilt, and efforts to maintain family stability. Fragile Sources of Stability reflected how participants sustained themselves through hope, faith in research, humour, routines, and preserving normality amid uncertainty. These interconnected themes illustrate how families navigated relationships, made sense of their lives, and oriented themselves over time within the broader context of HD. Overall, the study demonstrates that HD’s impact extends beyond caregiving to the relational and existential lives of family members. Findings contribute to theory by conceptualising HD as a family-level phenomenon shaped by shared meaning-making and evolving dynamics. Clinically, the study underscores the role of psychology in supporting both affected individuals and relatives, highlighting the importance of relationally informed services and systemic approaches to care.

Item Type:	Thesis (DClinPsy)
Date Type:	Completion
Status:	Unpublished
Schools:	Schools > Psychology
Subjects:	B Philosophy. Psychology. Religion > BF Psychology
Date of First Compliant Deposit:	13 November 2025
Last Modified:	13 Nov 2025 15:03
URI:	https://orca.cardiff.ac.uk/id/eprint/182397

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