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

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 ca...

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Bibliographic Details
Published in:Epilepsia (Copenhagen) 2019-08, Vol.60 (8), p.1670-1677
Main Authors: Delanty, Norman, White, Maire, Benson, Katherine, McCormack, Mark, Heavin, Sinead, Comerford, Elizabeth, Gangadharan, Nisha, Power, Kevin, Dunleavey, Brendan, El‐Naggar, Hany, Doherty, Colin, Greally, Marie, Cavalleri, Gianpiero, Fitzsimons, Mary
Format: Article
Language:English
Subjects:
eHealth
Electronic Health Records
Electronic medical records
Embedding
Epilepsy
Epilepsy - genetics
Epilepsy - therapy
exome sequencing
genetics
Genomics
Genomics - methods
Humans
Interdisciplinary Communication
Mental disorders
Patients
Pedigree
Phenotype
Photography
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Summary: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.
ISSN:0013-9580
1528-1167
DOI:10.1111/epi.16278