Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

Abstract

Objectives Both clinical genomics and e‐Health technology are changing the way medicine is being practiced. Although the basic clinical methodology of good medical care will remain unchanged, the combined power of genomics and electronic health records has the capability of enhancing, and in some cases transforming, the practice of medicine. This is particularly true in the care of patients with complex long‐term medical conditions such as chronic refractory epilepsy, especially in those with related complex comorbidities including intellectual disability and psychiatric disease. Methods Herein we outline the development and integration of an epilepsy genomics module into a preexisting epilepsy electronic patient record (EPR) system. Results We describe how this EPR infrastructure is used to facilitate discussion at multidisciplinary clinical meetings around molecular diagnosis and resulting changes in management. Significance This work illustrates the role of eHealth technology in embedding genomics into the clinical pathway.

Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system

“…Several ongoing efforts have customized EHR systems to support care of people with epilepsy 36 . For example, a practice in Ireland described the sociotechnical environment of clinical epilepsy documentation at their center, 37 followed by design and implementation of a custom‐built system, 38 and subsequent upgrades to include clinical genetics evaluations 39 . An epilepsy practice in the USA created and implemented a tool for detailed data collection for use in a well‐staffed outpatient practice 40 .…”

The development of an epilepsy electronic patient portal: Facilitating both patient empowerment and remote clinician‐patient interaction in a post‐COVID‐19 world

“…[28][29][30] A novel genomics module in the EPR is promoting precision care by supporting a multidisciplinary team of clinicians, geneticists, and bioinformaticians in their interpretation of genomic sequence data in the context of an individual's phenotype. 29 Epilepsy EPR-based clinical data analytics is enabling interrogation of large volumes of population data to derive insights regarding disease progression and response to treatment that can be used in future clinical decision support, thereby personalizing care. 28,31 The addition of the ePortal aims to encourage patients and/or care partners (eg, family members) to take a more active role in managing their health care by, for example, reporting outcomes that will allow clinicians to closely monitor individual response to treatment and be more proactive in their delivery of care.…”

“…Core to this is a bespoke National Epilepsy EPR, 28 which underpins the NCPE 4 . The Epilepsy EPR is a point of care system that currently contains the longitudinal epilepsy care records of approximately 10 000 individuals 29 . It supports a range of clinical tasks including in‐patient and outpatient care, outreach services, telephone/virtual clinics, epilepsy surgery, and vagus nerve stimulation (VNS) treatment.…”

“…It supports a range of clinical tasks including in‐patient and outpatient care, outreach services, telephone/virtual clinics, epilepsy surgery, and vagus nerve stimulation (VNS) treatment. Continuous evolution of the Epilepsy EPR aims to advance a model of PFCC 28–30 . A novel genomics module in the EPR is promoting precision care by supporting a multidisciplinary team of clinicians, geneticists, and bioinformaticians in their interpretation of genomic sequence data in the context of an individual's phenotype 29 .…”

“…Continuous evolution of the Epilepsy EPR aims to advance a model of PFCC 28–30 . A novel genomics module in the EPR is promoting precision care by supporting a multidisciplinary team of clinicians, geneticists, and bioinformaticians in their interpretation of genomic sequence data in the context of an individual's phenotype 29 . Epilepsy EPR‐based clinical data analytics is enabling interrogation of large volumes of population data to derive insights regarding disease progression and response to treatment that can be used in future clinical decision support, thereby personalizing care 28,31 .…”