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Surfacing undiagnosed disease: consideration, counting and coding
The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. This often re...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646190/ https://www.ncbi.nlm.nih.gov/pubmed/38027298 http://dx.doi.org/10.3389/fped.2023.1283880 |
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author | Baxter, Megan F. Hansen, Michele Gration, Dylan Groza, Tudor Baynam, Gareth |
author_facet | Baxter, Megan F. Hansen, Michele Gration, Dylan Groza, Tudor Baynam, Gareth |
author_sort | Baxter, Megan F. |
collection | PubMed |
description | The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. This often results in isolation, uncertainty, a delay to targeted treatments and increase in risk of complications with significant consequences for patient and family wellbeing. This article aims to highlight key time points to consider a rare disease diagnosis along with elements to consider in the potential operational classification for undiagnosed rare diseases during the diagnostic odyssey. We discuss the need to create a coding framework that traverses all stages of the diagnostic odyssey for PLWRD along with the potential benefits this will have to PLWRD and the wider community. |
format | Online Article Text |
id | pubmed-10646190 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-106461902023-10-25 Surfacing undiagnosed disease: consideration, counting and coding Baxter, Megan F. Hansen, Michele Gration, Dylan Groza, Tudor Baynam, Gareth Front Pediatr Pediatrics The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. This often results in isolation, uncertainty, a delay to targeted treatments and increase in risk of complications with significant consequences for patient and family wellbeing. This article aims to highlight key time points to consider a rare disease diagnosis along with elements to consider in the potential operational classification for undiagnosed rare diseases during the diagnostic odyssey. We discuss the need to create a coding framework that traverses all stages of the diagnostic odyssey for PLWRD along with the potential benefits this will have to PLWRD and the wider community. Frontiers Media S.A. 2023-10-25 /pmc/articles/PMC10646190/ /pubmed/38027298 http://dx.doi.org/10.3389/fped.2023.1283880 Text en © 2023 Baxter, Hansen, Gration, Groza and Baynam. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Baxter, Megan F. Hansen, Michele Gration, Dylan Groza, Tudor Baynam, Gareth Surfacing undiagnosed disease: consideration, counting and coding |
title | Surfacing undiagnosed disease: consideration, counting and coding |
title_full | Surfacing undiagnosed disease: consideration, counting and coding |
title_fullStr | Surfacing undiagnosed disease: consideration, counting and coding |
title_full_unstemmed | Surfacing undiagnosed disease: consideration, counting and coding |
title_short | Surfacing undiagnosed disease: consideration, counting and coding |
title_sort | surfacing undiagnosed disease: consideration, counting and coding |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646190/ https://www.ncbi.nlm.nih.gov/pubmed/38027298 http://dx.doi.org/10.3389/fped.2023.1283880 |
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