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Bevan Exemplar Cohort 5 Projects

GENOTIME: Genetic innovation for intellectual disability and developmental delay

Sian Corrin, Jade Heath, Angharad Williams, Erik Waskiewicz, Laura McCluskey, Nia Haines and Jenny Waizeneker

Cardiff and Vale University Health Board with industry partner, Oxford Gene Technology


Investigation of intellectual disability and developmental delay (ID/DD) can be a very lengthy process and an incredibly anxious period for families. In addition, it can require many medical investigations and procedures in order to arrive at this diagnosis. This journey is commonly referred to as the ‘diagnostic odyssey’.

The solution we propose to evaluate as part of this technology assessment could decrease the time taken for patients to receive a diagnosis. This would work as this test may detect different types of genetic variants in one test rather than requiring two separate tests like the current testing pathway.

Project Aims:

Currently within the laboratory, genetic investigations in patients with ID/DD are mostly performed in a stepwise manner using a number of different techniques.

The aim of this project was to evaluate the solution provided by OGT to determine if their new assay (which combines the capability of two different tests in one test) worked as well as the current separate tests. If it does, this could potentially reduce the time taken for some patients to receive a diagnosis as they would only need one test rather than two.

Genomic technologies are providing huge benefit to patients with rare diseases as they provide the possibility of a diagnosis in a single blood test, negating the need for expensive and invasive investigations and allowing the patient to access appropriate support more quickly. Earlier intervention has the possibility to avoid unnecessary hospital stays and, in some cases, avoids irreversible, preventable damage caused by symptoms. In this way, genomic medicine epitomises the principles of prudent healthcare. A diagnosis for a patient empowers them to make choices that can best benefit them.


The biggest challenge throughout this project has been identifying the time to prioritise development and improvement work whilst maintaining the day to day workload. As genetics is such a fast developing field the laboratory has had a requirement to implement very many new developments over a short period of time despite the disruption caused by COVID.

The key to managing this challenge has been team work and communication. With so many competing priorities it has been important to meet regularly as a senior leadership team to ensure that we all have aligned objectives and understand the available capacity and challenges.

Key Outcomes:

  • The protocol was tested and shown to be efficient and possible to implement using existing equipment within a diagnostic laboratory.
  • Staff were able to undergo training in the new protocol and to process the test independently.
  • There was good concordance between previous test results and results achieved using the new test.

This study has provided evidence that there is utility in continuing to evaluate the performance and possible benefits of this new test in a more in depth evaluation.

Next Steps:

Now that the preliminary proof of principle work has been completed and shown promising results, a more in depth evaluation and validation plan can be considered. As well as the performance of the platform itself, this will include evaluation of the wider impact on the clinical pathways as well as the internal laboratory pathways.

When implementing any new test it is important to think about all aspects of the pathway from receiving the sample to issuing the report and engaging with the users of the service to let them know about this new test. This will require creating a larger working group to ensure all elements are included.