Exploring genetic discrimination experienced by parents of children with rare diseases in Malaysia: a qualitative study

Abstract

Background Advances in genetic testing have transformed the landscape of rare disease diagnosis and clinical management. Yet, alongside these benefits, concerns remain regarding genetic discrimination and the broader social consequences of living with a genetic condition. While existing research has focused largely on hereditary cancer syndromes and predictive genetic testing, little is known about how local families affected by rare genetic conditions experience discrimination in everyday life. This study explored the experiences of genetic discrimination among parents of children with rare genetic conditions in Malaysia, including the settings in which discrimination occurred, its impact, coping strategies and recommendations for improving support. Methods A qualitative study design was employed. Semi-structured interviews were conducted with 15 parents of children diagnosed with rare genetic conditions, primarily recruited through the Malaysia Rare Disease Society (MRDS). Data were analysed using Braun and Clarke's reflexive thematic analysis approach. Five major themes: 1) diagnosis and genetic testing experience, 2) genetic discrimination, 3) emotional and social impact, 4) coping strategies, 5) suggestions and unmet needs were identified. Results Participants frequently characterised diagnostic journey as challenging, often involving prolonged periods without clear answers, while genetic testing played a crucial role in establishing diagnosis. Participants reported experiences of discrimination and disadvantage across healthcare, employment, insurance, education and social settings. Insurance-related barriers represented the clearest form of direct discrimination, while experiences in other settings included limited educational accommodations, perceived dismissal of concems within healthcare settings, and social misunderstanding of rare genetic conditions. Some experiences also reflecting disability- related stigma, phenotype-based disadvantage, and structural barriers. These experiences contributed to emotional distress and caregiver burden, while parents responded through advocacy, selective disclosure, and social support. Participants highlighted the need for integrated care, greater professional and public awareness, and stronger financial protection for families affected by rare genetic conditions. Conclusion The findings suggest that experiences of discrimination among rare disease families are closely intertwined with the everyday realities of caregiving and navigating systems that are inadequately prepared to support rare conditions. As one of the first qualitative studies to explore genetic discrimination among rare disease families in Malaysia, the findings highlight the need for greater awareness, equitable access to services, and stronger policy protections, while supporting the implementation of Malaysia's National Policy for Rare Diseases (2025).