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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2021
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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. |
format | Online Article Text |
id | pubmed-8051213 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
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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