Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about...

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Detalles Bibliográficos
Autores principales: Kenneson, Aileen, Youngborg, Lauren, Singh, Rani H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398965/
https://www.ncbi.nlm.nih.gov/pubmed/32775212
http://dx.doi.org/10.1016/j.ymgmr.2020.100633
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author Kenneson, Aileen
Youngborg, Lauren
Singh, Rani H.
author_facet Kenneson, Aileen
Youngborg, Lauren
Singh, Rani H.
author_sort Kenneson, Aileen
collection PubMed
description We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about inheritance patterns was limited, even for those who had received genetic testing. Future studies should further examine knowledge of IMDs and genetic testing among families, and factors that impact clinicians' decisions to offer genetic testing for IMDs.
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spelling pubmed-73989652020-08-06 Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases Kenneson, Aileen Youngborg, Lauren Singh, Rani H. Mol Genet Metab Rep Short Communication We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about inheritance patterns was limited, even for those who had received genetic testing. Future studies should further examine knowledge of IMDs and genetic testing among families, and factors that impact clinicians' decisions to offer genetic testing for IMDs. Elsevier 2020-07-31 /pmc/articles/PMC7398965/ /pubmed/32775212 http://dx.doi.org/10.1016/j.ymgmr.2020.100633 Text en © 2020 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Kenneson, Aileen
Youngborg, Lauren
Singh, Rani H.
Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
title Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
title_full Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
title_fullStr Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
title_full_unstemmed Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
title_short Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
title_sort genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398965/
https://www.ncbi.nlm.nih.gov/pubmed/32775212
http://dx.doi.org/10.1016/j.ymgmr.2020.100633
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