Communication in Rare and Undiagnosed Conditions

Parents of children with rare and undiagnosed conditions often face a long and challenging diagnostic odyssey. Respectful, clear communication with both genetic and non-genetic healthcare professionals is crucial in supporting families. However, little research has explored how parents experience these interactions. Understanding these experiences may help improve communication and provide better support for families throughout their child’s care.

About the Study

This study explored how parents experience communication around genetic and genomic testing, both within and outside of clinical genetics services. With genomic testing increasingly offered in mainstream settings, understanding communication in these settings is essential. Interviews with parents captured both positive and negative experiences. The final manuscript has been submitted to the Journal of Genetic Counselling, and we hope the findings will help guide more effective communication practices for families navigating rare and undiagnosed conditions.

Contact us: igmgenomics@uq.edu.au