Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists.

Kate Wolfe,Kerstin Stueber,Frances Flinter,André Strydom,Andrew Mcquillin,Fatima Jichi,Nick Bass,Christine Patch

doi:10.1111/jar.12391

Abstract

BackgroundAn increasing number of genetic causes of intellectual disabilities (ID) are identifiable by clinical genetic testing, offering the prospect of bespoke patient management. However, little is known about the practices of psychiatrists and their views on genetic testing.MethodWe undertook an online survey of 215 psychiatrists, who were contacted via the Royal College of Psychiatrist's Child and Adolescent and Intellectual Disability Psychiatry mailing lists.ResultsIn comparison with child and adolescent psychiatrists, intellectual disability psychiatrists ordered more genetic tests, referred more patients to genetic services, and were overall more confident in the genetic testing process. Respondents tended to agree that genetic diagnoses can help patient management; however, management changes were infrequently found in clinical practice.ConclusionsDifferences are apparent in the existing views and practices of child and adolescent and intellectual disability psychiatrists. Developing training and collaboration with colleagues working in genetic services could help to reduce discrepancies and improve clinical practice.

Highlights

1% of the population has a diagnosis of intellectual disability (ID), which is characterized by impairments in both intellectual and adaptive functioning and has its origin in the developmental period
We aimed to explore the attitudes and practices of United Kingdom (UK) psychiatrists working in child and adolescent mental health services (CAMHS) and adult intellectual disability psychiatry services on genetic testing in intellectual disability
Our results indicate that the majority of child and intellectual disability psychiatrists working with patients with intellectual disability are already ordering genetic tests or making referrals to genetics services

Summary

Introduction

1% of the population has a diagnosis of intellectual disability (ID), which is characterized by impairments in both intellectual and adaptive functioning and has its origin in the developmental period. Perhaps the better recognized genetic causes of intellectual disability occur when individuals exhibit a constellation of symptoms indicative of a known syndrome. In such instances, a specific genetic test may be indicated, for example single gene testing in Fragile X syndrome. An increasing number of genetic causes of intellectual disabilities (ID) are identifiable by clinical genetic testing, offering the prospect of bespoke patient management. Results: In comparison with child and adolescent psychiatrists, intellectual disability psychiatrists ordered more genetic tests, referred more patients to genetic services, and were overall more confident in the genetic testing process. Conclusions: Differences are apparent in the existing views and practices of child and adolescent and intellectual disability psychiatrists. Developing training and collaboration with colleagues working in genetic services could help to reduce discrepancies and improve clinical practice

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