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Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care
Author(s) -
Delanty Norman,
White Maire,
Benson Katherine,
McCormack Mark,
Heavin Sinead,
Comerford Elizabeth,
Gangadharan Nisha,
Power Kevin,
Dunleavey Brendan,
ElNaggar Hany,
Doherty Colin,
Greally Marie,
Cavalleri Gianpiero,
Fitzsimons Mary
Publication year - 2019
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.16278
Subject(s) - epilepsy , genomics , ehealth , health care , medicine , medical record , multidisciplinary approach , psychiatry , genetics , biology , genome , social science , sociology , economics , gene , economic growth
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 eH ealth technology in embedding genomics into the clinical pathway.