Journal of community genetics · 2026
Lived experiences of parents of children with genetic and neurodevelopmental disorders accessing genetic services in Rwanda: barriers and enablers.
СтатьяНазвание и аннотация: Перевод в очереди
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Uwineza Annette, Hakizimana Jean Claude, Runanira Daniel, Umutoniwase Divine Christelle, Hitayezu Janvier, Uyisenga Jeanne P, Marara Alpha-Arsene, Mukasine Angelique, Mutamuliza Janviere, Rutagarama Florent, Mutesa Leon, Alagbonsi Abdullateef Isiaka
Аннотация
BACKGROUND: Neurodevelopmental disorders (NDDs) pose significant challenges in low- and middle-income countries (LMICs), where access to specialized care is limited. In Rwanda, genetic services are centralized; however, little is known about parental experiences navigating diagnosis and management.
OBJECTIVE: This qualitative study explored the lived experiences of parents of children with NDDs in Rwanda, focusing on diagnostic journeys, barriers and enablers to care, socioeconomic impacts, stigma, resilience, and recommendations for service improvement.
METHODS: Semi-structured in-depth interviews were conducted between November 2023 and July 2024 with 30 parents (27 mothers, 3 fathers) of children referred to the pediatric genetics clinic at the University Teaching Hospital of Kigali, Rwanda. Purposive sampling ensured diversity in socioeconomic status and rural or urban residence. Interviews were audio-recorded, transcribed verbatim in Kinyarwanda, translated into English, and analyzed thematically using ATLAS.ti software, following Braun and Clarke's framework.
RESULTS: Six major themes emerged: (1) diagnostic delays and uncertainty, characterized by prolonged referrals and delayed results; (2) systemic access barriers, including centralization and geographical hurdles; (3) pervasive socioeconomic hardships exacerbating poverty; (4) sociocultural stigma involving supernatural attributions and social exclusion; (5) profound resilience sustained by hope in clinical progress and spiritual faith and compassionate care; and (6) visions for improvement, emphasizing community education, financial support, decentralization, and hybrid telemedicine.
CONCLUSION: Rwandan parents face structural, economic, and cultural barriers to accessing genetic care, yet demonstrate resilience. Findings highlight the need for decentralized services, community awareness, financial support, and culturally sensitive provider training to reduce diagnostic delays and promote equitable care. These insights inform interventions in Rwanda and comparable LMIC settings.
OBJECTIVE: This qualitative study explored the lived experiences of parents of children with NDDs in Rwanda, focusing on diagnostic journeys, barriers and enablers to care, socioeconomic impacts, stigma, resilience, and recommendations for service improvement.
METHODS: Semi-structured in-depth interviews were conducted between November 2023 and July 2024 with 30 parents (27 mothers, 3 fathers) of children referred to the pediatric genetics clinic at the University Teaching Hospital of Kigali, Rwanda. Purposive sampling ensured diversity in socioeconomic status and rural or urban residence. Interviews were audio-recorded, transcribed verbatim in Kinyarwanda, translated into English, and analyzed thematically using ATLAS.ti software, following Braun and Clarke's framework.
RESULTS: Six major themes emerged: (1) diagnostic delays and uncertainty, characterized by prolonged referrals and delayed results; (2) systemic access barriers, including centralization and geographical hurdles; (3) pervasive socioeconomic hardships exacerbating poverty; (4) sociocultural stigma involving supernatural attributions and social exclusion; (5) profound resilience sustained by hope in clinical progress and spiritual faith and compassionate care; and (6) visions for improvement, emphasizing community education, financial support, decentralization, and hybrid telemedicine.
CONCLUSION: Rwandan parents face structural, economic, and cultural barriers to accessing genetic care, yet demonstrate resilience. Findings highlight the need for decentralized services, community awareness, financial support, and culturally sensitive provider training to reduce diagnostic delays and promote equitable care. These insights inform interventions in Rwanda and comparable LMIC settings.