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.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Delanty N,White M,Benson K,McCormack M,Heavin S,Comerford E,Gangadharan N,Power K,Dunleavey B,El-Naggar H,Doherty C,Greally M,Cavalleri G,Fitzsimons M

doi

10.1111/epi.16278

subject

Has Abstract

pub_date

2019-08-01 00:00:00

pages

1670-1677

issue

8

eissn

0013-9580

issn

1528-1167

journal_volume

60

pub_type

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