A qualitative study into the experiences of families affected by developmental disorders seeing the UK NHS Genetics Service; if I had known then what I know now

Abstract

Parents of a child with a developmental disorder (DD) experience significant challenges, such as prognostic uncertainty, lack of care coordination, stigmatization, and changes to social and financial positions. Limited research exists into whether parents' support needs are being met by the United Kingdom National Health Service (UK NHS) Genetics Service. Therefore, this study aimed to establish whether these parents feel adequately supported by the UK NHS Genetics Service and, if not, what further support could be provided. This study recruited participants through the Unique and SWAN UK support groups. Fourteen parents of children with a DD took part in semi-structured interviews. Four overarching themes were identified: Expectations, the impact of the delivery of the diagnosis, uncertainty about who has medical responsibility, and isolation. While some positive experiences were described, parents also revealed expectations of support from the Genetics Service that were not met. These expectations included support with care coordination, a medical professional to take a holistic approach, and being signposted effectively to support networks. The analysis suggests that patient expectations of the Genetics Service need to be managed prior to the first appointment and that parents would benefit from access to a dedicated care coordinator. Furthermore, signposting to support groups is inconsistent. Future research should focus on identifying families most in need of support so that these families can be prioritized for the limited resources and investigate how best to prepare patients for receiving a diagnosis.