The expected utility and psychological impacts of exome sequencing results in the DDD ‐Africa study

Abstract

Exome sequencing (ES) has become a valuable approach for diagnosing developmental disorders (DD), improving the diagnostic yield to up to 40%, and offering a potential end to the diagnostic odyssey experienced by many families. However, there remains a scarcity of studies assessing the lived experiences of parents and caregivers of individuals with DD, particularly within an African context. From the Deciphering Developmental Disorders in Africa (DDD‐Africa) study, 101 parents from 97 families who received ES results for their child with a previously undiagnosed DD participated in this sub‐study, which aimed to explore parents' expected utility of ES results and the psychological, social, and emotional impacts of receiving such results. Before result feedback consultations, researcher‐administered pre‐result feedback questionnaires were completed to determine parents' expectations of ES results and their motivations for seeking a confirmed diagnosis. Consultation summary notes were analyzed using a deductive, literature‐informed quantitative content analysis to identify psychological aspects that arose immediately after receiving results. The vast majority of parents, 98 of 101 (97.0%), expressed that they expected results to help them gain knowledge and understanding of their child's condition, and many ranked gaining a better understanding of their child's condition and potential future health problems as their primary motivator for seeking a confirmed diagnosis. Receiving a confirmed diagnosis was overwhelming and emotional for 39 of 97 (40.2%) families and elicited complex emotional responses. Results brought relief and/or a sense of resolution to 42 of 97 (43.3%) families, while 32 of 97 (34.5%) were accepting of their child's condition before receiving a result and 20 of 97 (20.6%) families experienced grief or a loss of hope. This study accentuates the importance of confirming a genetic diagnosis in individuals with DD, with parents expecting results to enhance their understanding of their child's condition, its cause, and any future health problems, illustrating the importance of genetic counseling in preparing and supporting families for ES result feedback.