Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).

Authors

Marianne Gush, Shahida Moosa

Published in

European journal of human genetics : EJHG. Jul 29, 2026. Epub Jul 29, 2026.

Abstract

Rare genetic diseases (RDs), though individually uncommon, collectively impose a substantial global burden with significant social, emotional and economic implications. Understanding the lived experiences of RD patients, caregivers and service providers is essential to fully address the challenges they face. This study presents a narrative synthesis of original qualitative research on RDs published between 2004 and 2024, identifying 317 studies across multiple databases. Reflexive thematic analysis was used to synthesise and interpret the findings, allowing for an integrative understanding of both commonalities and disparities in experiences and research focus globally. While studies from Europe (45%) and North America (32%) dominated the field, markedly fewer included participants from Africa (3%), Asia (11%) and South America (2%), particularly from low- to middle-income countries. Across studies, recurring themes included navigating emotional resilience; the redefinition of identity in the face of RD; the social experience of illness; healthcare experiences, including access to and quality of healthcare services; the financial and logistical burden of care; the experience of research and new technologies; and the influence of society, culture and power structures. The pronounced underrepresentation of LMIC settings, persisting despite targeted search efforts, is itself a substantive finding, raising critical questions about where rare disease knowledge is produced and whose experiences are considered worthy of formal documentation. The synthesis underscores the urgent need for geographically inclusive, methodologically diverse and community-engaged approaches to qualitative RD research.

PMID:
42521812
Bibliographic data and abstract were imported from PubMed on 29 Jul 2026.

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