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.

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

“…Parents’ open-ended responses revealed that communication between families and clinicians may be an important contributor to parent satisfaction with genomic sequencing. Previous research has also found that parents are less satisfied with clinical services related to their child’s genetic testing when the parent-clinician communication is inconsistent and sporadic 34. Parents in our study especially wanted delays in receiving the result of their child’s genomic test to be communicated to them, which has been found previously 35…”

“…Previous research has also found that parents are less satisfied with clinical services related to their child's genetic testing when the parent-clinician communication is inconsistent and sporadic. 34 Parents in our study especially wanted delays in receiving the result of their child's genomic test to be communicated to them, which has been found previously. 35 Practice implications Our findings have key implications for clinical practice and research regarding communication between clinicians and parents of children with chILD undergoing genomic testing.…”

The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review

“…Some carers attribute their timely access to funding, equipment, and community assistance, to RDPO intervention [ 57 ]. Studies in other rare neurological disorders, such as childhood-onset developmental and epileptic encephalopathies, have reported similar findings [ 58 ]. By offering financial assistance, educational tool development, service coordination, fostered community solidarity, and professional healthcare training, RDPOs may facilitate the implementation of new therapies [ 15 , 59 ].…”

Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action

“…Genetic testing allows for the benefit of individualized treatment plans in addition to ending the diagnostic odyssey, which not only halts further unnecessary testing but may also result in immense psychological benefit, leading to improved quality of life. However, genetic testing may reveal that other family members carry the same gene or disorder, which can be difficult for families to navigate [ 59 ]. Furthermore, ensuring equitable application of these advances in genomic technology has been challenging.…”

“…While genetic diagnosis may provide timely medical intervention, informed choices, access to clinical trials and engagement in disease-specific support [ 59 ] for some with RD, significant barriers to wellbeing also emerge. This includes isolation and loneliness.…”