The expected utility of whole-exome sequencing results and the psychosocial impacts of receiving a diagnosis

Abstract

From the Deciphering Developmental Disorders in Africa parent study, 58 families with probands affected with developmental disorders, who received whole-exome sequencing (WES) results, participated in this sub-study to explore caregivers’ expected utility and the psychosocial impacts of WES results. This was achieved through the analysis of researcher- administered pre-result feedback questionnaires as well as post-feedback consultation notes, respectively. Prior to result feedback, 53/62 (85.5%) caregivers expected results to provide a label to the condition and 47/62 (75.8%) expected to gain knowledge of the condition’s future trajectory. Immediately after WES result delivery, results elicited significant psychosocial and emotional responses from caregivers. This was illustrated by five codes commonly applied through quantitative content analysis: (1) providing a label, (2) relief and closure, (3) the parental burden, (4) overwhelmed and emotional and (5) loss of hope and grief. Overall, these findings accentuate the importance of confirming a diagnosis and emphasise the psychosocial impacts of ending the diagnostic odyssey in an African context.