Background

Genetic testing is becoming increasingly important in the diagnosis and management of neurological disorders in both children and adults. Testing technology had advanced rapidly over the recent decade and it is now a significant and core part of the clinical workload. This study explored the landscape of genetic testing over a 5-year period, from 2017 to 2022, in the department of paediatric neurology at Children’s Health Ireland, Crumlin to review the outcomes of testing and to calculate the associated costs both directly and indirectly to the department.

Research

A key finding in the study was that genetic testing had clinical impact in the diagnosis and management of paediatric neurology patients. In addition to the monetary costs per test, the study found that there was significant time costs to the department related to arranging, delivering and reviewing findings in genetic testing. It demonstrated a potential cost-saving benefit of embedding a genetic counsellor within the department to support neurologists utilising genetic testing.

Impact

The study has demonstrated the evolving landscape of genetic testing over the last number of years had led to increased work demands within the department and can be utilised for work planning including recruitment of additional staff to paediatric neurology departments. The identification of areas of need through this study, helps to provide evidence supporting the development of genomic health policies and strategies locally, nationally and at an international level.