Information and genetic counselling for psychiatric risks in children with rare disorders

Background: The diagnosis of developmental disorders is being transformed by advances in whole genome technologies. However, continuing uncertainties about the individual risks and potential severity of psychiatric impacts attributed to causal genomic variants limits the availability of comprehensive family-oriented information. In addition, there is insufficient evidence about how the parents of children with developmental disorders comprehend the facts and implications of their diagnosis through genetic counselling, nor how they gather developmental and mental health information to guide their understanding. Methods: Parents of children (aged 0-17 years) referred to paediatric genetics services completed an anonymous online 46-item survey about: (i) the experience of attending services to receive their child9s genetic diagnosis, and (ii) the availability, quality and helpfulness of information about psychiatric and neurodevelopmental conditions associated with genomic disorders. Findings: Two-hundred and eighty-six families (199 UK and 87 USA) completed the survey. One-in-three UK and one-in-five US respondents were dissatisfied with how their child9s genetic diagnosis was communicated. Satisfaction was predicted by face-to-face communication (odds ratio 2.91 [95% CI 1.43-5.94]; p=0.003); results being presented by genetics specialists (2.97 [1.41-6.26]; p=0.004); receiving clear explanations (5.14 [2.58-10.26]; p