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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines

There is currently no oversight for canine clinical genetic testing laboratories. We published an initial set of standards and guidelines with the goal of providing a basis for which canine testing laboratories could evaluate their quality assurance programs. To further those standards and guideline...

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Autores principales: Shaffer, Lisa G., Geretschlaeger, Anja, Ramirez, Christina J., Ballif, Blake C., Carl, Casey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536464/
https://www.ncbi.nlm.nih.gov/pubmed/30982136
http://dx.doi.org/10.1007/s00439-019-02013-9
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author Shaffer, Lisa G.
Geretschlaeger, Anja
Ramirez, Christina J.
Ballif, Blake C.
Carl, Casey
author_facet Shaffer, Lisa G.
Geretschlaeger, Anja
Ramirez, Christina J.
Ballif, Blake C.
Carl, Casey
author_sort Shaffer, Lisa G.
collection PubMed
description There is currently no oversight for canine clinical genetic testing laboratories. We published an initial set of standards and guidelines with the goal of providing a basis for which canine testing laboratories could evaluate their quality assurance programs. To further those standards and guidelines, we have developed a checklist that can be used as a self-evaluation to identify gaps in their programs for continual quality improvement over time. Because there is currently no organization willing to oversee an external proficiency program, the checklist provides the first step toward an internal, self-assessment that can be used periodically to monitor improvements. In addition, we attempt to address concerns from the canine community regarding rare or private mutations, genetic screening using array-based technologies, non-peer reviewed tests that are being offered, and the clinical validity of certain mutations in particular breeds. Through coordination, conversation and hard work, the canine genetic testing community can strive to organize to improve testing and to provide more transparency to consumers and better outcomes for dogs. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00439-019-02013-9) contains supplementary material, which is available to authorized users.
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spelling pubmed-65364642019-06-12 Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines Shaffer, Lisa G. Geretschlaeger, Anja Ramirez, Christina J. Ballif, Blake C. Carl, Casey Hum Genet Original Investigation There is currently no oversight for canine clinical genetic testing laboratories. We published an initial set of standards and guidelines with the goal of providing a basis for which canine testing laboratories could evaluate their quality assurance programs. To further those standards and guidelines, we have developed a checklist that can be used as a self-evaluation to identify gaps in their programs for continual quality improvement over time. Because there is currently no organization willing to oversee an external proficiency program, the checklist provides the first step toward an internal, self-assessment that can be used periodically to monitor improvements. In addition, we attempt to address concerns from the canine community regarding rare or private mutations, genetic screening using array-based technologies, non-peer reviewed tests that are being offered, and the clinical validity of certain mutations in particular breeds. Through coordination, conversation and hard work, the canine genetic testing community can strive to organize to improve testing and to provide more transparency to consumers and better outcomes for dogs. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00439-019-02013-9) contains supplementary material, which is available to authorized users. Springer Berlin Heidelberg 2019-04-13 2019 /pmc/articles/PMC6536464/ /pubmed/30982136 http://dx.doi.org/10.1007/s00439-019-02013-9 Text en © The Author(s) 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Original Investigation
Shaffer, Lisa G.
Geretschlaeger, Anja
Ramirez, Christina J.
Ballif, Blake C.
Carl, Casey
Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
title Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
title_full Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
title_fullStr Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
title_full_unstemmed Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
title_short Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
title_sort quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
topic Original Investigation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536464/
https://www.ncbi.nlm.nih.gov/pubmed/30982136
http://dx.doi.org/10.1007/s00439-019-02013-9
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