RT Journal Article
SR Electronic
T1 Information and genetic counselling for psychiatric risks in children with rare disorders
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 542423
DO 10.1101/542423
A1 Andrew Cuthbert
A1 Aimee Challenger
A1 Jeremy Hall
A1 Marianne BM van den Bree
YR 2019
UL http://biorxiv.org/content/early/2019/02/07/542423.abstract
AB 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 child’s 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 child’s 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<0·001); receiving support (2·99 [1·21–7·36], p=0·017); and male gender of the tested child (2·56 [1·28–5·14]; p=0·008). 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<0·001). This was particularly evident for families in the UK compared to the USA (p<0·001). Parents considered information from rare disorder support groups to be more helpful than from genetics specialists (odds ratio 11·0 [95% CI 5·08–86·75]; p<0·001), or paediatricians (11·0 [1·42–85·20]; p=0·006), or internet sites (15·5 [3·71–64·77]; p<0·001), which in turn proved more helpful than information provided by geneticists (2·5 [1·44–4·31]; p=0·001).Interpretation: Psychiatric 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.Funding: The 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).