Genomics in intellectual disability and dementia services

Project Background

Genomic investigation is available for people with intellectual disability (including adults) and people with a suspected inherited form of dementia via the National Genomic Test Directory.
There are approximately 50 NHS Trusts in England which provide mental health, intellectual disability and autism services. These Trusts are largely separate from Acute NHS Trusts. Evidence indicates that there are generally very low levels of genomic investigations originating from Mental Health Trusts.

Most intellectual (also called learning) disability services for adults are provided by Mental Health Trusts. The proportion of people with intellectual disability for whom a genomic diagnosis can be made has dramatically increased over the last 10 years with the clinical application of microarray and next generation sequencing technologies. The majority of adults in in contact with intellectual disability services will not have had the comprehensive genomic investigation, which is now available for the investigation of intellectual/developmental delay in children. In addition to providing an explanation for a person intellectual disability a genomic diagnosis may have important implications for mental health and physical health screening and monitoring. Furthermore, some genomic diagnoses have implication for drug prescription.

Most people with suspected dementia (including young onset dementia) are assessed in memory clinics provided by Mental Health Services. While the proportion of people with dementia who have a genetic cause for their dementia is relatively small genomic diagnosis can be very important for that person and their family. With next generation sequencing technology, it is now possible to comprehensively screen for variants in dementia-associated genes. Currently data suggests that genomic investigation is being rarely utilised by memory clinics.

Progress to date

A project team has been established and includes two higher trainees in psychiatry of intellectual disability.

We have largely completed the mapping exercise. Request data obtained from GOSH laboratory hub showed very low levels of requesting from mental health services.

A survey of consultant psychiatrist (ID services) has been completed and will inform pathway development and generation of educational resources. Engagement of other stakeholders has started eg Unique

The testing pathways are currently being drafted within the framework of the The Clinical Pathway Initiative.

A one-day a week secondment for clinical nurse specialist is being advertised to develop the role in dementia and ID services.

Raising awareness of the project and dissemination of findings/outcomes has begun. The project was presented at NHS Genomics Healthcare Summit in October and advertised at RCPsych ID Faculty annual meeting in November.

We have made links with the NWGMSA/ North West ID services and South West region and are setting up a network for genomics in ID services.