Caregiver quality of life and burden in rare genetic diseases in South Korea

Caregivers of individuals with rare genetic diseases experience substantial and persistent challenges that negatively affect their quality of life (QoL) and increase their burden. This study explored factors associated with caregiver QoL and burden in South Korea, focusing on patient characteristics, treatment availability, and genetic counseling experience. A cross-sectional survey was conducted with 159 caregivers of patients with rare genetic diseases at a tertiary general hospital. Caregiver QoL and burden were measured using the Caregiver QoL Scale and the Korean version of the Burden Assessment Scale. Demographic and clinical characteristics were also collected. Statistical analyses were performed using R software. Group differences were evaluated using Welch t tests, Wilcoxon rank-sum tests, and one-way analysis of variance with post hoc tests. Correlation analyses examined associations between QoL and caregiver burden. Caregiver QoL was significantly higher among those caring for minors, whereas caregiver burden was significantly higher among those caring for patients with registered disabilities. Treatment availability was associated with higher caregiver QoL and lower burden. Disease category also influenced outcomes: caregivers of patients with progressive conditions and localized impairments reported significantly lower QoL than those caring for patients with chronic conditions with effective treatment or symptomatic care or stable conditions with disabilities. Conversely, caregivers of patients with fatal diseases lacking effective treatment reported significantly higher burden than those caring for patients with chronic conditions with effective treatment. Caregiver QoL and burden were strongly and negatively correlated. Most caregivers (68.6%) had no prior genetic counseling experience, although those with counseling experience reported higher family openness scores, a QoL subdomain. Caregiver QoL and burden are closely linked to patient characteristics, treatment availability, and contextual caregiving demands. Expanding access to effective treatments, improving service accessibility, and integrating genetic counseling into caregiver support systems may improve the well-being of families affected by rare genetic diseases.