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

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

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

journal contribution

posted on 2021-04-26, 13:34 authored by Norman DelantyNorman Delanty, Maire WhiteMaire White, Katherine BensonKatherine Benson, Mark McCormack, Sinead Heavin, Elizabeth Comerford, Nisha Gangadharan, Kevin PowerKevin Power, Brendan Dunleavey, Hany El-NaggarHany El-Naggar, Colin Doherty, Marie GreallyMarie Greally, Gianpiero CavalleriGianpiero Cavalleri, Mary Fitzsimons

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.

Funding

eHealth Ireland Health Services Executive of Ireland

Epilepsy Lighthouse Project

History

References

https://pubmed.ncbi.nlm.nih.gov/31297800/

Comments

This is the peer reviewed version of the following article: 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. Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care. Epilepsia. 2019;60(8):1670-1677., which has been published in final form at https://doi.org/10.1111/epi.16278. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.

Published Citation

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. Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care. Epilepsia. 2019;60(8):1670-1677.