The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings
Newborn screening in Alaska includes screening for carnitine palmitoyltransferase 1A (CPT1A) deficiency. The CPT1A Arctic variant is a variant highly prevalent among Indigenous peoples in the Arctic. In this study, we sought to elicit Alaska Native (AN) community member and AN-serving healthcare pro...
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2023
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Online Access: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725401/ http://www.ncbi.nlm.nih.gov/pubmed/37847346 https://doi.org/10.1007/s12687-023-00684-6 |
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ftpubmed:oai:pubmedcentral.nih.gov:10725401 2024-01-21T10:02:50+01:00 The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings Beans, Julie A. Trinidad, Susan Brown Shane, Aliassa L. Wark, Kyle A. Avey, Jaedon P. Apok, Charlene Guinn, Tiffany Robler, Samantha Kleindienst Hirschfeld, Matthew Koeller, David M. Dillard, Denise A. 2023-10-17 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725401/ http://www.ncbi.nlm.nih.gov/pubmed/37847346 https://doi.org/10.1007/s12687-023-00684-6 en eng Springer Berlin Heidelberg http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725401/ http://www.ncbi.nlm.nih.gov/pubmed/37847346 http://dx.doi.org/10.1007/s12687-023-00684-6 © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. J Community Genet Research Text 2023 ftpubmed https://doi.org/10.1007/s12687-023-00684-6 2023-12-24T01:52:49Z Newborn screening in Alaska includes screening for carnitine palmitoyltransferase 1A (CPT1A) deficiency. The CPT1A Arctic variant is a variant highly prevalent among Indigenous peoples in the Arctic. In this study, we sought to elicit Alaska Native (AN) community member and AN-serving healthcare providers’ knowledge and perspectives on the CPT1A Arctic variant. Focus groups with community members and healthcare providers were held in two regions of Alaska between October 2018 and January 2019. Thematic analysis was used to identify recurring constructs. Knowledge and understanding about the CPT1A Arctic variant and its health impact varied, and participants were interested in learning more about it. Additional education for healthcare professionals was recommended to improve providers’ ability to communicate with family caregivers about the Arctic variant. Engagement with AN community members identified opportunities to improve educational outreach via multiple modalities for providers and caregivers on the Arctic variant, which could help to increase culturally relevant guidance and avoid stigmatization, undue worry, and unnecessary intervention. Education and guidance on the care of infants and children homozygous for the CPT1A Arctic variant could improve care and reduce negative psychosocial effects. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-023-00684-6. Text Arctic Alaska PubMed Central (PMC) Arctic Journal of Community Genetics 14 6 613 620 |
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Research Beans, Julie A. Trinidad, Susan Brown Shane, Aliassa L. Wark, Kyle A. Avey, Jaedon P. Apok, Charlene Guinn, Tiffany Robler, Samantha Kleindienst Hirschfeld, Matthew Koeller, David M. Dillard, Denise A. The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings |
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Research |
description |
Newborn screening in Alaska includes screening for carnitine palmitoyltransferase 1A (CPT1A) deficiency. The CPT1A Arctic variant is a variant highly prevalent among Indigenous peoples in the Arctic. In this study, we sought to elicit Alaska Native (AN) community member and AN-serving healthcare providers’ knowledge and perspectives on the CPT1A Arctic variant. Focus groups with community members and healthcare providers were held in two regions of Alaska between October 2018 and January 2019. Thematic analysis was used to identify recurring constructs. Knowledge and understanding about the CPT1A Arctic variant and its health impact varied, and participants were interested in learning more about it. Additional education for healthcare professionals was recommended to improve providers’ ability to communicate with family caregivers about the Arctic variant. Engagement with AN community members identified opportunities to improve educational outreach via multiple modalities for providers and caregivers on the Arctic variant, which could help to increase culturally relevant guidance and avoid stigmatization, undue worry, and unnecessary intervention. Education and guidance on the care of infants and children homozygous for the CPT1A Arctic variant could improve care and reduce negative psychosocial effects. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-023-00684-6. |
format |
Text |
author |
Beans, Julie A. Trinidad, Susan Brown Shane, Aliassa L. Wark, Kyle A. Avey, Jaedon P. Apok, Charlene Guinn, Tiffany Robler, Samantha Kleindienst Hirschfeld, Matthew Koeller, David M. Dillard, Denise A. |
author_facet |
Beans, Julie A. Trinidad, Susan Brown Shane, Aliassa L. Wark, Kyle A. Avey, Jaedon P. Apok, Charlene Guinn, Tiffany Robler, Samantha Kleindienst Hirschfeld, Matthew Koeller, David M. Dillard, Denise A. |
author_sort |
Beans, Julie A. |
title |
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings |
title_short |
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings |
title_full |
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings |
title_fullStr |
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings |
title_full_unstemmed |
The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings |
title_sort |
cpt1a arctic variant: perspectives of community members and providers in two alaska tribal health settings |
publisher |
Springer Berlin Heidelberg |
publishDate |
2023 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725401/ http://www.ncbi.nlm.nih.gov/pubmed/37847346 https://doi.org/10.1007/s12687-023-00684-6 |
geographic |
Arctic |
geographic_facet |
Arctic |
genre |
Arctic Alaska |
genre_facet |
Arctic Alaska |
op_source |
J Community Genet |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725401/ http://www.ncbi.nlm.nih.gov/pubmed/37847346 http://dx.doi.org/10.1007/s12687-023-00684-6 |
op_rights |
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. |
op_doi |
https://doi.org/10.1007/s12687-023-00684-6 |
container_title |
Journal of Community Genetics |
container_volume |
14 |
container_issue |
6 |
container_start_page |
613 |
op_container_end_page |
620 |
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