Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy

Abstract

Aim: To investigate the psychosocial impact of genetic testing for childhood-onset developmental and epileptic encephalopathies (DEEs) in order to identify parents’ information and support needs. Method: In this mixed-methods study, we conducted in-depth semi-structured interviews with parents (n=25) of children, recruited from the Sydney Children’s Hospital Network, Australia, who had received genetic testing. Thematic saturation was reached; interviews were transcribed, deidentified, line-by-line coded, and thematically analysed by three coders, using an inductive approach. We also quantitatively assessed the impact of genetic testing on quality of life outcomes and parents’ satisfaction with genetics services. Results: Qualitative and quantitative analysis revealed that compassionate genetic counselling and consistent clinician–parent partnerships facilitated parents’ capacity to process their child’s genetic diagnosis. Parents believed that a sparsity of diagnosis-specific information to contextualize their child’s genetic DEE, combined with limited psychosocial resources to support coping with ongoing prognostic uncertainty, contributed to chronic psychological stress. Access to diagnosis-specific resources and peer support was considered necessary to support parents in communicating their child’s genetic DEE and to reduce social isolation. Interpretation: Integrated psychosocial resources, including tailored psychological supports, diagnosis-specific information, and peer-to-peer supports, are priority areas to complement genetic services.