Genomics has advanced rapidly in recent years, with wide-reaching impacts across healthcare. In neurology, genetic information now plays a key role in diagnosis, prognosis, and management of many conditions. Around 10% of neurological diseases are caused by a single gene mutation, and nearly 40% of known genetic disorders affect the brain or nervous system. Technologies like next-generation sequencing (NGS) have revolutionised how these conditions are understood. One commonly used NGS method, whole exome sequencing, focuses on the protein-coding parts of the genome, where most disease-causing mutations are found.
Despite these advances, a recent survey of neurology trainees in Ireland revealed low confidence in using genomic tools—particularly in obtaining consent, selecting tests, interpreting results, and communicating findings. These findings, presented at the Irish Neurology Association Annual Meeting, resonated with senior consultants, many of whom also expressed low confidence applying genomics. All respondents agreed that more education in neurogenetics is needed.
To address this gap, a national conference is being planned to enhance genomic literacy among neurology consultants and trainees. The event aims to promote collaboration between clinicians and researchers, and to foster meaningful public and patient involvement, crucial for guiding service development and research priorities.
The conference supports the broader goal of “mainstreaming” genomics: integrating genetic knowledge across specialties by equipping non-geneticist doctors with the skills and confidence to use these tools in practice. The target audience includes consultants and trainees in neurology and clinical genetics, as well as researchers in neuroscience and genomics. Key outcomes will be shared via the Dublin Neurological Institute and the Irish Institute of Clinical Neuroscience websites.
