Electronic Health Record
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Researchers in Ireland are one step closer to offering seamless personalized care to epilepsy patients nationwide, reporting that they have developed a genomics module within an epilepsy‐specific electronic patient record (EPR). The improved access to genomic data will allow clinical teams to understand the causes of a patient’s epilepsy and develop personalized care.

The research was published recently in the August 2019 issue of the journal Epilepsia, in an article entitledDevelopment of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care.”

“We now know that much of previously unexplained epilepsy is due, in part, to damaging variants in a person’s genome,” said Norman Delanty, MD, first author on the paper, in a press release. “The potential to understand the reason for a particular person’s epilepsy at a molecular level, and to use this information to develop personalized therapies, will become a significant advancement in the way we practice medicine.”

Delanty is an associate professor at Royal College of Surgeons Ireland (RCSI) and consultant neurologist at Beaumont Hospital. He is also a FutureNeuro Investigator. FutureNeuro is Science Foundation Ireland’s Research Centre for Chronic and Rare Neurological Diseases, hosted by RCSI. Its researchers work with industry to develop diagnostic, therapeutic and eHealth solutions. Delanty and his colleagues worked with researchers from the Irish government’s Health Service Executive’s Epilepsy Lighthouse Project, which focuses on personalizing epilepsy care.

The authors of the new paper said their work illustrates the role of eHealth technology in embedding genomics into the clinical pathway. In the report, Delanty and colleagues outline the development and integration of an epilepsy genomics module into a preexisting epilepsy EPR system. They also describe how this EPR infrastructure is used to facilitate discussion at multidisciplinary clinical meetings around molecular diagnosis and the resulting changes in management.

Nearly 3.5 million people in the U.S. live with epilepsy, a chronic disorder that causes life-disrupting seizures. About 470,000 of those cases are children. Today, many adults and children with epilepsy of unknown cause now undergo genomic testing, shedding light on the underlying cause of their condition.

In recent years, scientists have discovered more than 20 different syndromes that have epilepsy as a main feature. These have been mapped to specific genes. In addition, many more Mendelian disorders have epilepsy as a primary symptom. Researchers have identified mutations in genes that encode sodium, potassium, and calcium channels that can cause epilepsy. These discoveries have begun to impact clinical care for epilepsy.

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 patient’s epilepsy.

“The epilepsy EPR system is one of the largest, most detailed collections of active epilepsy eHealth records in the world,” said Mary Fitzsimons, FutureNeuro epilepsy eHealth lead and director of the Epilepsy Lighthouse Project at RCSI, in the release.

“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.”

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