Recessive Genetic Conditions: the experiences of patients and professionals

Healthwatch Sheffield and Firvale Community Hub explored the experiences of families affected by recessive genetic conditions, such as thalassaemia and cystic fibrosis, and the confidence of professionals supporting them. The work involved surveys and conversations with parents, most of whom identified as Pakistani, alongside surveys of healthcare professionals. The study found that receiving a diagnosis could be a difficult and emotional process, with some families experiencing long delays, uncertainty and distress. Parents reported mixed experiences of support from health services, particularly GPs and genetics services. 

Many parents felt they did not receive enough support or information from their GP, often describing appointments as rushed and lacking opportunities to ask questions. Experiences with regional genetics services varied, with some families finding appointments confusing while others praised staff for explaining conditions clearly and sensitively without making families feel blamed or judged. Parents consistently highlighted the value of the Sheffield Genetic Literacy Project and other community-based support services, which helped them understand genetic conditions, access information in community languages and discuss issues with family members. However, professional awareness of these services was low, and none of the professionals surveyed had referred families to the project.

Access to information was another key theme. Many parents had not seen information about genetic conditions before a child became ill or received a diagnosis. Participants emphasised the importance of culturally appropriate information, translation into community languages and opportunities to ask questions. Several parents reported that receiving information from professionals who understood their language and cultural background greatly improved their experience. Professionals generally felt confident discussing recessive genetic conditions, but identified training needs around cultural competency, cultural awareness and having sensitive conversations with families. 

The report also explored attitudes within families and communities. While some parents reported limited understanding and support from the wider community, others described strong support from close relatives. Participants suggested that attitudes towards cousin marriage and genetic risk may be changing among younger generations, with increased awareness influencing family decisions. Healthwatch Sheffield recommended improving emotional support for families, strengthening links between healthcare providers and community support projects, increasing access to culturally appropriate information and training professionals in cultural competency to improve support for families affected by recessive genetic conditions.