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

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.

Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome

“…Similar to the results seen within this study, many parents of children with CF report having limited knowledge about the genetic mechanism behind their child's diagnosis and/or the genetic therapy options available (Chapman & Bilton, 2004). This is entirely understandable in CF, AS, and other rare genetic syndromes, as it is likely that the parenting focus has been on understanding what the syndrome or diagnosis means for their child in real life, rather than on trying to explain the genetic pathway for countries; for example, research highlights that professionals in the United Kingdom feel less confident in the process of referring adults than of referring children for genetic testing and/or counseling (Wolfe et al, 2018).…”

Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London

“…A recent survey of Child and Adolescent Psychiatrists and Intellectual Disability psychiatrists in the United Kingdom found these doctors thought there needed to be better training and closer links with regional genetics services and that they would prefer to refer a regional genetics service than order a genetic test themselves (Wolfe et al, ). However, genetics services do not have the capacity to see people just for testing and nongeneticists need to initiate the process, if a patient and family wish to explore genetic testing.…”

“…In the Wolfe et al () study cited above, the psychiatrists were asked to estimate the percentage of people with intellectual disability for whom genetic factors make a significant contribution toward the cause of their intellectual disability. The mean estimate was 39.6% SD ±3.9%, however estimates of percentage caseload with an established diagnosis were just 10%, highlighting a significant proportion of people who potentially have an undiagnosed genetic disorder.…”

“…Previous research has identified varying knowledge on how to offer genetic testing in the intellectual disability population (Wolfe et al, ) and limited awareness of the impact this may have on families and carers (Lingen et al, ).…”

A Systematic Genetic Assessment of <i>ARFGEF2</i> Mutations in Periventricular Heterotopia

“…The development of the human cerebral cortex is a remarkably complex process. Cortical malfunctions are often the underlying causes of developmental microcephaly, global developmental delay, and intellectual disability, and many such disorders have a genetic basis [1][2][3]. A failure of neuronal migration from the periventricular region to the developing cortex is a familial inherited disorder known as PH.…”