Information and genetic counselling for psychiatric risks in children with rare disorders
BackgroundThe 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. MethodsParents 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 childs genetic diagnosis, and (ii) the availability, quality and helpfulness of information about psychiatric and neurodevelopmental conditions associated with genomic disorders. FindingsTwo-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 childs genetic diagnosis was communicated. Satisfaction was predicted by face-to-face communication (odds ratio 2{middle dot}91 [95% CI 1{middle dot}43-5{middle dot}94]; p=0{middle dot}003); results being presented by genetics specialists (2{middle dot}97 [1{middle dot}41-6{middle dot}26]; p=0{middle dot}004); receiving clear explanations (5{middle dot}14 [2{middle dot}58- 10{middle dot}26]; p<0{middle dot}001); receiving support (2{middle dot}99 [1{middle dot}21-7{middle dot}36], p=0{middle dot}017); and male gender of the tested child (2{middle dot}56 [1{middle dot}28-5{middle dot}14]; p=0{middle dot}008). Compared to health-related information on developmental delay or intellectual disability, parents were more likely to obtain information about psychiatric manifestations from non-professional lay sources than from clinical specialists (p<0{middle dot}001). This was particularly evident for families in the UK compared to the USA (p<0{middle dot}001). Parents considered information from rare disorder support groups to be more helpful than from genetics specialists (odds ratio 11{middle dot}0 [95% CI 5{middle dot}08-86{middle dot}75]; p<0{middle dot}001), or paediatricians (11{middle dot}0 [1{middle dot}42-85{middle dot}20]; p=0{middle dot}006), or internet sites (15{middle dot}5 [3{middle dot}71-64{middle dot}77]; p<0{middle dot}001), which in turn proved more helpful than information provided by geneticists (2{middle dot}5 [1{middle dot}44-4{middle dot}31]; p=0{middle dot}001). InterpretationPsychiatric comorbidity is a common feature of rare genomic disorders, but the paucity of suitable information available from clinical specialists suggests families are not optimally informed about these challenges. Wider implementation of genomic testing in general medicine should include adequate training in genetic counselling to ensure best practice in communicating and explaining complex test results supported by comprehensive, family-oriented information. FundingThe Waterloo Foundation: Changing Minds Programme (506296); The Medical Research Council (MRC) Research Grant: Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (MR/N022572/1).