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Epilepsia. 2019 Aug;60(8):1670-1677. doi: 10.1111/epi.16278. Epub 2019 Jul 11.

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

Author information

1
Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland.
2
FutureNeuro Research Centre, The Royal College of Surgeons in Ireland, Dublin, Ireland.
3
Department of Neurology, Beaumont Hospital, Dublin, Ireland.
4
Department of Neurology, St. James's Hospital, Dublin, Ireland.

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.

KEYWORDS:

eHealth; exome sequencing; genetics

PMID:
31297800
DOI:
10.1111/epi.16278

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