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Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados

Millions of patients, with suspected complex neurogenetic disorders, living in resource limited regions around the world have no access to genetic testing despite the rapidly expanding availability and decreasing costs of genetic testing in first world nations. The barriers to increasing availabilit...

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Autores principales: Scantlebury, Morris Hilary, Barrett, Karlene Tanechia, Jacinto, Simeona, Corbin, David Orlando Christopher, Kerr, Marina, Khan, Aneal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051213/
https://www.ncbi.nlm.nih.gov/pubmed/33912281
http://dx.doi.org/10.11604/pamj.2021.38.111.27969
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author Scantlebury, Morris Hilary
Barrett, Karlene Tanechia
Jacinto, Simeona
Corbin, David Orlando Christopher
Kerr, Marina
Khan, Aneal
author_facet Scantlebury, Morris Hilary
Barrett, Karlene Tanechia
Jacinto, Simeona
Corbin, David Orlando Christopher
Kerr, Marina
Khan, Aneal
author_sort Scantlebury, Morris Hilary
collection PubMed
description Millions of patients, with suspected complex neurogenetic disorders, living in resource limited regions around the world have no access to genetic testing despite the rapidly expanding availability and decreasing costs of genetic testing in first world nations. The barriers to increasing availability of genetic testing in resource limited nations are multifactorial but can be attributed, in large part, to a lack of awareness of the power of genetic testing to lead to a rapid, cost-effective, diagnosis that potentially will have profound clinical implications on treatment and patient outcomes. We report our experience with whole exome sequencing (WES) done for the first time in 5 patients of African descent with a suspected neurogenetic disorder living in a resource limited setting on the Eastern Caribbean island of Barbados. A diagnostic pathogenic mutation was found in 3 patients in the SCN1A, STXBP1 and SCN4A, who clinically were diagnosed with Dravet syndrome, Lennox-Gastaut syndrome, paramytonia and seizures respectively. A variant of undetermined significance was found in a patient with global developmental delays, hypotonia, with abnormal eye movements. In one patient WES was non-diagnostic. This result highlights the high yield of WES in carefully selected patients with a neurologic disease and the need for increase access to genetic testing in resource limited settings globally.
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spelling pubmed-80512132021-04-27 Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados Scantlebury, Morris Hilary Barrett, Karlene Tanechia Jacinto, Simeona Corbin, David Orlando Christopher Kerr, Marina Khan, Aneal Pan Afr Med J Commentary Millions of patients, with suspected complex neurogenetic disorders, living in resource limited regions around the world have no access to genetic testing despite the rapidly expanding availability and decreasing costs of genetic testing in first world nations. The barriers to increasing availability of genetic testing in resource limited nations are multifactorial but can be attributed, in large part, to a lack of awareness of the power of genetic testing to lead to a rapid, cost-effective, diagnosis that potentially will have profound clinical implications on treatment and patient outcomes. We report our experience with whole exome sequencing (WES) done for the first time in 5 patients of African descent with a suspected neurogenetic disorder living in a resource limited setting on the Eastern Caribbean island of Barbados. A diagnostic pathogenic mutation was found in 3 patients in the SCN1A, STXBP1 and SCN4A, who clinically were diagnosed with Dravet syndrome, Lennox-Gastaut syndrome, paramytonia and seizures respectively. A variant of undetermined significance was found in a patient with global developmental delays, hypotonia, with abnormal eye movements. In one patient WES was non-diagnostic. This result highlights the high yield of WES in carefully selected patients with a neurologic disease and the need for increase access to genetic testing in resource limited settings globally. The African Field Epidemiology Network 2021-02-03 /pmc/articles/PMC8051213/ /pubmed/33912281 http://dx.doi.org/10.11604/pamj.2021.38.111.27969 Text en Copyright: Morris Hilary Scantlebury et al. https://creativecommons.org/licenses/by/4.0/The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Commentary
Scantlebury, Morris Hilary
Barrett, Karlene Tanechia
Jacinto, Simeona
Corbin, David Orlando Christopher
Kerr, Marina
Khan, Aneal
Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados
title Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados
title_full Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados
title_fullStr Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados
title_full_unstemmed Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados
title_short Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados
title_sort cou cou, flying fish and a whole exome please... lessons learned from genetic testing in barbados
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051213/
https://www.ncbi.nlm.nih.gov/pubmed/33912281
http://dx.doi.org/10.11604/pamj.2021.38.111.27969
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