News, Secondary Care

Researchers integrate genomics data in to Irish electronic patient records

Researchers from Ireland’s HSE Epilepsy Lighthouse Project and FutureNeuro, the SFI Research Centre for Chronic and Rare Neurological Diseases, have developed a new genomics module in the Irish National Epilepsy Electronic Patient Record system.

Many adults and children with epilepsy of unknown causes now undergo genomic testing, which can help with an accurate diagnosis based on if there are variants in a person’s genome.

The genomic test results and genetic knowledge have now been integrated in to the national system for epilepsy.

Prof. Norman Delanty, Consultant Neurologist at Beaumont Hospital said “We now know that much of previously unexplained epilepsy is due, in part, to damaging variants in a person’s genome. The potential to understand the reason for a particular person’s epilepsy at a molecular level, and to use this information to develop personalised therapies will become a significant advancement in the way we practice medicine.”

Mary Fitzsimons, FutureNeuro Epilepsy eHealth Lead “The epilepsy EPR system is one of the largest, most detailed collections of active epilepsy eHealth records in the world. To our knowledge, the epilepsy genomics module we have developed is the first such specific system in the world. We believe the combined power of genomics and electronic patient records has the capability of enhancing, and in some cases transforming, the practice of medicine.”

Prof. Gianpiero Cavalleri, Professor of Human Genetics at RCSI “Diagnostic genomic testing is a rapidly growing area in clinical medicine, but there is much work to be done to understand the most effective way to integrate this powerful information into patient care. We hope this new eHealth technology can inform how genomics is integrated into the Irish healthcare system and act as an example for other diseases beyond epilepsy. Having this data available in a person’s secure electronic record enables multidisciplinary teams to quickly make better decisions about a person’s treatment options.”

The new Epilepsy EPR module facilitates regular multidisciplinary meetings between clinicians, geneticists, bioinformaticians, and other team members, where they review data from genomic testing to determine if there is an identifiable genetic cause for a person’s epilepsy.