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Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review

Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising quality of life. There...

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Autores principales: Delaye, Julien, Cacciatore, Pasquale, Kole, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9213803/
https://www.ncbi.nlm.nih.gov/pubmed/35754469
http://dx.doi.org/10.3389/fphar.2022.914338
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author Delaye, Julien
Cacciatore, Pasquale
Kole, Anna
author_facet Delaye, Julien
Cacciatore, Pasquale
Kole, Anna
author_sort Delaye, Julien
collection PubMed
description Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising quality of life. There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases. Methods: This scoping review is the result of 9 qualitative interviews with experts and a literature search on Cost-of-Illness (COI) studies and quality of life (QoL) studies following the PRISMA methodology. Grey literature was also included to complement findings. Results. 63 COI studies were retrieved, covering 42 diseases and a vast majority of them using a prevalence-based approach (94%). All studies included medical costs, while 60% included non-medical costs, 68% productivity losses and 43% informal care costs. 56 studies on QoL were retrieved, mostly from Europe, with 30 different measurement tools. Grey literature included surveys from the pharmaceutical industry and patient organisations. Discussion: The majority of studies evaluating the impact of RDs on the individual and society use the COI approach, mostly from a societal perspective. Studies often vary in scope, making them difficult to consolidate or compare results. While medical costs and productivity losses are consistently included, QoL aspects are rarely considered in COI and are usually measured through generic tools. Conclusion: A comprehensive study on impact of rare disease across countries in Europe is lacking. Existing studies are heterogeneous in their scope and methodology and often lack a holistic picture of the impact of rare. Consensus on standards and methodology across countries and diseases is then needed. Studies that consider a holistic approach are often conducted by pharmaceutical companies and patient organisations exploring a specific disease area but are not necessarily visible in the literature and could benefit from the sharing of standards and best practices.
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spelling pubmed-92138032022-06-23 Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review Delaye, Julien Cacciatore, Pasquale Kole, Anna Front Pharmacol Pharmacology Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising quality of life. There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases. Methods: This scoping review is the result of 9 qualitative interviews with experts and a literature search on Cost-of-Illness (COI) studies and quality of life (QoL) studies following the PRISMA methodology. Grey literature was also included to complement findings. Results. 63 COI studies were retrieved, covering 42 diseases and a vast majority of them using a prevalence-based approach (94%). All studies included medical costs, while 60% included non-medical costs, 68% productivity losses and 43% informal care costs. 56 studies on QoL were retrieved, mostly from Europe, with 30 different measurement tools. Grey literature included surveys from the pharmaceutical industry and patient organisations. Discussion: The majority of studies evaluating the impact of RDs on the individual and society use the COI approach, mostly from a societal perspective. Studies often vary in scope, making them difficult to consolidate or compare results. While medical costs and productivity losses are consistently included, QoL aspects are rarely considered in COI and are usually measured through generic tools. Conclusion: A comprehensive study on impact of rare disease across countries in Europe is lacking. Existing studies are heterogeneous in their scope and methodology and often lack a holistic picture of the impact of rare. Consensus on standards and methodology across countries and diseases is then needed. Studies that consider a holistic approach are often conducted by pharmaceutical companies and patient organisations exploring a specific disease area but are not necessarily visible in the literature and could benefit from the sharing of standards and best practices. Frontiers Media S.A. 2022-06-08 /pmc/articles/PMC9213803/ /pubmed/35754469 http://dx.doi.org/10.3389/fphar.2022.914338 Text en Copyright © 2022 Delaye, Cacciatore and Kole. 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). 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 Pharmacology
Delaye, Julien
Cacciatore, Pasquale
Kole, Anna
Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review
title Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review
title_full Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review
title_fullStr Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review
title_full_unstemmed Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review
title_short Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review
title_sort valuing the “burden” and impact of rare diseases: a scoping review
topic Pharmacology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9213803/
https://www.ncbi.nlm.nih.gov/pubmed/35754469
http://dx.doi.org/10.3389/fphar.2022.914338
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