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Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare. With the many novel technologies that have expanded the genetic toolkit, genetics is increasingly evolving beyond r...

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Autores principales: Vrijenhoek, T., Tonisson, N., Kääriäinen, H., Leitsalu, L., Rigter, T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948164/
https://www.ncbi.nlm.nih.gov/pubmed/33704686
http://dx.doi.org/10.1007/s12687-021-00514-7
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author Vrijenhoek, T.
Tonisson, N.
Kääriäinen, H.
Leitsalu, L.
Rigter, T.
author_facet Vrijenhoek, T.
Tonisson, N.
Kääriäinen, H.
Leitsalu, L.
Rigter, T.
author_sort Vrijenhoek, T.
collection PubMed
description Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare. With the many novel technologies that have expanded the genetic toolkit, genetics is increasingly evolving beyond rare disease diagnostics. When placed in a transition context—like we do here—clinical genetics is likely to become a fully integral part of future healthcare and clinical genetic expertise will be required increasingly outside traditional clinical genetic settings. We explore transition effects on the thinking (culture), organizing (structure), and performing (practice) in clinical genetics, taking genetic healthcare in Estonia, Finland, and the Netherlands as examples. Despite clearly distinct healthcare histories, all three countries have initially implemented genetic healthcare in a rather similar fashion: as a diagnostic tool for predominantly rare congenital diseases, with clinical geneticists as the main providers. Dynamics at different levels, such as emerging technologies, biobanks and data infrastructure, and legislative frameworks, may require development of a new system attuned with the demands and (historic) context of specific countries. Here, we provide an overview of genetic service provisions in Estonia, Finland, and the Netherlands to consider the impact of historic and recent events on prospective developments in genetic healthcare.
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spelling pubmed-79481642021-03-11 Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands Vrijenhoek, T. Tonisson, N. Kääriäinen, H. Leitsalu, L. Rigter, T. J Community Genet Original Article Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare. With the many novel technologies that have expanded the genetic toolkit, genetics is increasingly evolving beyond rare disease diagnostics. When placed in a transition context—like we do here—clinical genetics is likely to become a fully integral part of future healthcare and clinical genetic expertise will be required increasingly outside traditional clinical genetic settings. We explore transition effects on the thinking (culture), organizing (structure), and performing (practice) in clinical genetics, taking genetic healthcare in Estonia, Finland, and the Netherlands as examples. Despite clearly distinct healthcare histories, all three countries have initially implemented genetic healthcare in a rather similar fashion: as a diagnostic tool for predominantly rare congenital diseases, with clinical geneticists as the main providers. Dynamics at different levels, such as emerging technologies, biobanks and data infrastructure, and legislative frameworks, may require development of a new system attuned with the demands and (historic) context of specific countries. Here, we provide an overview of genetic service provisions in Estonia, Finland, and the Netherlands to consider the impact of historic and recent events on prospective developments in genetic healthcare. Springer Berlin Heidelberg 2021-03-11 2021-04 /pmc/articles/PMC7948164/ /pubmed/33704686 http://dx.doi.org/10.1007/s12687-021-00514-7 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Vrijenhoek, T.
Tonisson, N.
Kääriäinen, H.
Leitsalu, L.
Rigter, T.
Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands
title Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands
title_full Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands
title_fullStr Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands
title_full_unstemmed Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands
title_short Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands
title_sort clinical genetics in transition—a comparison of genetic services in estonia, finland, and the netherlands
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948164/
https://www.ncbi.nlm.nih.gov/pubmed/33704686
http://dx.doi.org/10.1007/s12687-021-00514-7
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