Incorporating epilepsy genetics into clinical practice: a 360°evaluation

Genetic screening: actionable information for epilepsy patients and clinicians Screening for epilepsy-related gene variants can lead to effective, personalized treatment plans while reducing costs. UK and Danish scientists, led by Deb Pal, King’s College London, evaluated a new service within the UK...

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Autores principales:	Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F. Hughes, Ruth E. Williams, Line H. G. Larsen, Qin Hao, Hans Atli Dahl, Rikke S. Møller, Deb K. Pal
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/fd1d22dfee3c4f5984bcd5e51f0e638b
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spelling	oai:doaj.org-article:fd1d22dfee3c4f5984bcd5e51f0e638b2021-12-02T12:34:18ZIncorporating epilepsy genetics into clinical practice: a 360°evaluation10.1038/s41525-018-0052-92056-7944https://doaj.org/article/fd1d22dfee3c4f5984bcd5e51f0e638b2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41525-018-0052-9https://doaj.org/toc/2056-7944Genetic screening: actionable information for epilepsy patients and clinicians Screening for epilepsy-related gene variants can lead to effective, personalized treatment plans while reducing costs. UK and Danish scientists, led by Deb Pal, King’s College London, evaluated a new service within the UK that searches for genetic variants in patients that cause epilepsy. The authors assessed the impact of next-generation gene panel tests, as well as the necessary resources to make such a service effective. Genetic testing was most effective in patients with seizure onset under 2 years old (21% diagnosed) and yield even higher in neonatal-onset epilepsy (63% diagnosed). For many patients with pathogenic variants, the diagnoses allowed for recommendations on treatment or enrolment in clinical trials. The researchers found that diagnostic delay and financial burden in neonatal epilepsy could be drastically reduced with gene panel testing. The scheme was highly rated by users and patients alike.Stephanie OatesShan TangRichard RoschRosalie LearElaine F. HughesRuth E. WilliamsLine H. G. LarsenQin HaoHans Atli DahlRikke S. MøllerDeb K. PalNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Stephanie Oates Shan Tang Richard Rosch Rosalie Lear Elaine F. Hughes Ruth E. Williams Line H. G. Larsen Qin Hao Hans Atli Dahl Rikke S. Møller Deb K. Pal Incorporating epilepsy genetics into clinical practice: a 360°evaluation
description	Genetic screening: actionable information for epilepsy patients and clinicians Screening for epilepsy-related gene variants can lead to effective, personalized treatment plans while reducing costs. UK and Danish scientists, led by Deb Pal, King’s College London, evaluated a new service within the UK that searches for genetic variants in patients that cause epilepsy. The authors assessed the impact of next-generation gene panel tests, as well as the necessary resources to make such a service effective. Genetic testing was most effective in patients with seizure onset under 2 years old (21% diagnosed) and yield even higher in neonatal-onset epilepsy (63% diagnosed). For many patients with pathogenic variants, the diagnoses allowed for recommendations on treatment or enrolment in clinical trials. The researchers found that diagnostic delay and financial burden in neonatal epilepsy could be drastically reduced with gene panel testing. The scheme was highly rated by users and patients alike.
format	article
author	Stephanie Oates Shan Tang Richard Rosch Rosalie Lear Elaine F. Hughes Ruth E. Williams Line H. G. Larsen Qin Hao Hans Atli Dahl Rikke S. Møller Deb K. Pal
author_facet	Stephanie Oates Shan Tang Richard Rosch Rosalie Lear Elaine F. Hughes Ruth E. Williams Line H. G. Larsen Qin Hao Hans Atli Dahl Rikke S. Møller Deb K. Pal
author_sort	Stephanie Oates
title	Incorporating epilepsy genetics into clinical practice: a 360°evaluation
title_short	Incorporating epilepsy genetics into clinical practice: a 360°evaluation
title_full	Incorporating epilepsy genetics into clinical practice: a 360°evaluation
title_fullStr	Incorporating epilepsy genetics into clinical practice: a 360°evaluation
title_full_unstemmed	Incorporating epilepsy genetics into clinical practice: a 360°evaluation
title_sort	incorporating epilepsy genetics into clinical practice: a 360°evaluation
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/fd1d22dfee3c4f5984bcd5e51f0e638b
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Incorporating epilepsy genetics into clinical practice: a 360°evaluation

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