Ordering Whole Genome Sequencing for Intellectual Disability (ID)

Psychiatry has been added as a requesting specialty for the R27 Paediatric Disorders Whole Genome Sequencing (WGS) test. Please be aware that although the test name is Paediatric disorder that this investigation is also suitable for adults with intellectual disability. 

Full information on eligibility can be found on the National Genomic Test Directory but testing criteria requires:  

• Unexplained moderate/severe/profound global developmental delay or unexplained moderate/severe/profound intellectual disability, and where clinical features are highly suggestive of an underlying monogenic disorder requiring sequencing and targeted genetic testing is not possible 

• Syndromic overgrowth or overgrowth in combination with intellectual disability or developmental delay. 

Information and WGS test request forms can be found on the North Thames Genomic Medicine Service website but please note that all samples must be submitted for testing with the following forms: 

1. Test order form 

1. Record of Discussion 

We recognise that the consent process to request a WGS sample is a change to the current process and we are therefore offering a number of resources and support to help with this change. This includes a dedicated education session on the 8th of July at 1pm. Please register online for this session. 

• Please refer to our education and training curated collection, for online guidance on requesting WGS.  

• For non-clinical queries about WGS requesting, or to arrange a bespoke training session for your team, please contact our Genomics Associates on gos-tr.ntgenomicsassociate@nhs.net.  

• For any other questions or concerns regarding the above please do contact Nicole Eady Nicole.eady2@nhs.net Mental Health co-lead, NT GMS.