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Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. METHODS: We conducted a survey to study patient access, attitudes, and experience with ALS genetic testin...

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Autores principales: Wagner, Karin N., Nagaraja, Haikady N., Allain, Dawn C., Quick, Adam, Kolb, Stephen J., Roggenbuck, Jennifer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902388/
https://www.ncbi.nlm.nih.gov/pubmed/29266834
http://dx.doi.org/10.1002/mgg3.360
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author Wagner, Karin N.
Nagaraja, Haikady N.
Allain, Dawn C.
Quick, Adam
Kolb, Stephen J.
Roggenbuck, Jennifer
author_facet Wagner, Karin N.
Nagaraja, Haikady N.
Allain, Dawn C.
Quick, Adam
Kolb, Stephen J.
Roggenbuck, Jennifer
author_sort Wagner, Karin N.
collection PubMed
description BACKGROUND: Amyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. METHODS: We conducted a survey to study patient access, attitudes, and experience with ALS genetic testing among patients enrolled in a US ALS registry. RESULTS: Among 449 survey respondents, 156 (34.7%) were offered testing and 105 of 156 (67.3%) completed testing. The majority of respondents with familial ALS (fALS) (31/45, 68.9%) were offered testing, while a minority of respondents with sporadic ALS (sALS) (111/404, 27.5%) were offered testing (p = .00001). Comparison of mean test experience scores between groups revealed that respondents with fALS were no more likely to report a favorable experience with genetic testing than those with sALS (p = .51). Respondents who saw a genetic counselor did not have significantly different test experience scores, compared to those who did not (p = .14). In addition, no differences in test experience scores were observed between those who received positive or negative genetic test results (p = .98). CONCLUSION: These data indicate that patients with ALS found value in clinical genetic testing.
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spelling pubmed-59023882018-04-24 Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing Wagner, Karin N. Nagaraja, Haikady N. Allain, Dawn C. Quick, Adam Kolb, Stephen J. Roggenbuck, Jennifer Mol Genet Genomic Med Original Articles BACKGROUND: Amyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. METHODS: We conducted a survey to study patient access, attitudes, and experience with ALS genetic testing among patients enrolled in a US ALS registry. RESULTS: Among 449 survey respondents, 156 (34.7%) were offered testing and 105 of 156 (67.3%) completed testing. The majority of respondents with familial ALS (fALS) (31/45, 68.9%) were offered testing, while a minority of respondents with sporadic ALS (sALS) (111/404, 27.5%) were offered testing (p = .00001). Comparison of mean test experience scores between groups revealed that respondents with fALS were no more likely to report a favorable experience with genetic testing than those with sALS (p = .51). Respondents who saw a genetic counselor did not have significantly different test experience scores, compared to those who did not (p = .14). In addition, no differences in test experience scores were observed between those who received positive or negative genetic test results (p = .98). CONCLUSION: These data indicate that patients with ALS found value in clinical genetic testing. John Wiley and Sons Inc. 2017-12-20 /pmc/articles/PMC5902388/ /pubmed/29266834 http://dx.doi.org/10.1002/mgg3.360 Text en © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Wagner, Karin N.
Nagaraja, Haikady N.
Allain, Dawn C.
Quick, Adam
Kolb, Stephen J.
Roggenbuck, Jennifer
Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
title Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
title_full Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
title_fullStr Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
title_full_unstemmed Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
title_short Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
title_sort patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902388/
https://www.ncbi.nlm.nih.gov/pubmed/29266834
http://dx.doi.org/10.1002/mgg3.360
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