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Current state of rare disease registries and databases in Australia: a scoping review

BACKGROUND: Rare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government’s National Strategic Action Plan for Rare Diseases has identified the need for a national, coordinated, and systematic approach to the collection and use of RD data, i...

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Autores principales: Ruseckaite, Rasa, Mudunna, Chethana, Caruso, Marisa, Helwani, Falak, Millis, Nicole, Lacaze, Paul, Ahern, Susannah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373259/
https://www.ncbi.nlm.nih.gov/pubmed/37501152
http://dx.doi.org/10.1186/s13023-023-02823-1
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author Ruseckaite, Rasa
Mudunna, Chethana
Caruso, Marisa
Helwani, Falak
Millis, Nicole
Lacaze, Paul
Ahern, Susannah
author_facet Ruseckaite, Rasa
Mudunna, Chethana
Caruso, Marisa
Helwani, Falak
Millis, Nicole
Lacaze, Paul
Ahern, Susannah
author_sort Ruseckaite, Rasa
collection PubMed
description BACKGROUND: Rare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government’s National Strategic Action Plan for Rare Diseases has identified the need for a national, coordinated, and systematic approach to the collection and use of RD data, including registries. Rare disease registries (RDRs) are established for epidemiological, quality improvement and research purposes, and they are critical infrastructure for clinical trials. The aim of this scoping review was to review literature on the current state of RDRs in Australia; to describe how they are funded; what data they collect; and their impact on patient outcomes. METHODS: We conducted a literature search on MEDLINE, EMBASE, CINAHL and PsychINFO databases, in addition to Google Scholar and grey literature. Dissertations, government reports, randomised control trials, conference proceedings, conference posters and meeting abstracts were also included. Articles were excluded if they did not discuss RDs or if they were written in a language other than English. Studies were assessed on demographic and clinical patient characteristics, procedure or treatment type and health-related quality of life captured by RDRs or databases that have been established to date. RESULTS: Seventy-four RDRs were identified; 19 were global registries in which Australians participated, 24 were Australian-only registries, 10 were Australia and New Zealand based, and five were Australian jurisdiction-based registries. Sixteen “umbrella” registries collected data on several different conditions, which included some RDs, and thirteen RDRs stored rare cancer-specific information. Most RDRs and databases captured similar types of information related to patient characteristics, comorbidities and other clinical features, procedure or treatment type and health-related quality of life measures. We found considerable heterogeneity among existing RDRs in Australia, especially with regards to data collection, scope and quality of registries, suggesting a national coordinated approach to RDRs is required. CONCLUSION: This scoping review highlights the current state of Australian RDRs, identifying several important gaps and opportunities for improvement through national coordination and increased investment.
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spelling pubmed-103732592023-07-28 Current state of rare disease registries and databases in Australia: a scoping review Ruseckaite, Rasa Mudunna, Chethana Caruso, Marisa Helwani, Falak Millis, Nicole Lacaze, Paul Ahern, Susannah Orphanet J Rare Dis Review BACKGROUND: Rare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government’s National Strategic Action Plan for Rare Diseases has identified the need for a national, coordinated, and systematic approach to the collection and use of RD data, including registries. Rare disease registries (RDRs) are established for epidemiological, quality improvement and research purposes, and they are critical infrastructure for clinical trials. The aim of this scoping review was to review literature on the current state of RDRs in Australia; to describe how they are funded; what data they collect; and their impact on patient outcomes. METHODS: We conducted a literature search on MEDLINE, EMBASE, CINAHL and PsychINFO databases, in addition to Google Scholar and grey literature. Dissertations, government reports, randomised control trials, conference proceedings, conference posters and meeting abstracts were also included. Articles were excluded if they did not discuss RDs or if they were written in a language other than English. Studies were assessed on demographic and clinical patient characteristics, procedure or treatment type and health-related quality of life captured by RDRs or databases that have been established to date. RESULTS: Seventy-four RDRs were identified; 19 were global registries in which Australians participated, 24 were Australian-only registries, 10 were Australia and New Zealand based, and five were Australian jurisdiction-based registries. Sixteen “umbrella” registries collected data on several different conditions, which included some RDs, and thirteen RDRs stored rare cancer-specific information. Most RDRs and databases captured similar types of information related to patient characteristics, comorbidities and other clinical features, procedure or treatment type and health-related quality of life measures. We found considerable heterogeneity among existing RDRs in Australia, especially with regards to data collection, scope and quality of registries, suggesting a national coordinated approach to RDRs is required. CONCLUSION: This scoping review highlights the current state of Australian RDRs, identifying several important gaps and opportunities for improvement through national coordination and increased investment. BioMed Central 2023-07-27 /pmc/articles/PMC10373259/ /pubmed/37501152 http://dx.doi.org/10.1186/s13023-023-02823-1 Text en © The Author(s) 2023 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/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Ruseckaite, Rasa
Mudunna, Chethana
Caruso, Marisa
Helwani, Falak
Millis, Nicole
Lacaze, Paul
Ahern, Susannah
Current state of rare disease registries and databases in Australia: a scoping review
title Current state of rare disease registries and databases in Australia: a scoping review
title_full Current state of rare disease registries and databases in Australia: a scoping review
title_fullStr Current state of rare disease registries and databases in Australia: a scoping review
title_full_unstemmed Current state of rare disease registries and databases in Australia: a scoping review
title_short Current state of rare disease registries and databases in Australia: a scoping review
title_sort current state of rare disease registries and databases in australia: a scoping review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373259/
https://www.ncbi.nlm.nih.gov/pubmed/37501152
http://dx.doi.org/10.1186/s13023-023-02823-1
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