A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not...
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| Vydáno v: | Frontiers in public health Ročník 13; s. 1510818 |
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| Jazyk: | angličtina |
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Frontiers Media S.A
26.02.2025
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| ISSN: | 2296-2565, 2296-2565 |
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| Abstract | Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized.
We surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary.
The survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs.
A unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor. |
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| AbstractList | BackgroundUndiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized.MethodsWe surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary.ResultsThe survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs.ConclusionA unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor. Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized.BackgroundUndiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized.We surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary.MethodsWe surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary.The survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs.ResultsThe survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs.A unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor.ConclusionA unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor. Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized. We surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary. The survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs. A unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor. |
| Author | Baynam, Gareth Cederroth, Helene Kvlividze, Oleg Taruscio, Domenica Scaria, Vinod Romero, Vaness I. Azam, Maleeha Groft, Stephen Dissanayake, Vajira Harshadeva Weerabaddana Puri, Ratna Dua Shotelersuk, Vorasuk Hettiarachchi, Dineshani Melegh, Béla Posada, Manuel Cellai, Laura L. Jamuar, Saumya S. la Paz, Eva Maria Cutiongco-de Alanay, Yasemin Salvatore, Marco Lumaka, Aimé Gahl, William A. Bodamer, Olaf Roccatello, Dario Giugliani, Roberto Landoure, Guida Ozbek, Ugur Baldovino, Simone Gonzaga-Jauregui, Claudia Carta, Claudio Pagava, Karaman Wiafe, Samuel A. Makay, Prince Sciascia, Savino Ferrari, Gianluca |
| AuthorAffiliation | 12 House of Rares, Department of Genetics UFRGS and DASA, Medical Genetics Service, HCPA , Porto Alegre , Brazil 15 Faculté de Médecine et d'Odontostomatologie, l'Université des Sciences, des Techniques et des Technologies de Bamako , Bamako , Mali 22 Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University , Bangkok , Thailand 4 Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa , Kinshasa , Democratic Republic of Congo 16 Department of Medical Genetics, School of Medicine, University of Pécs , Pécs , Hungary 26 Rare Diseases Research Institute (IIER), SpainUDP, Instituto de Salud Carlos III (ISCIII) , Madrid , Spain 25 Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital , Boston, MA , United States 2 National Centre for Rare Diseases, Istituto Superiore di Sanità , Rome , Italy 9 Wilhelm Foundation , Stockholm , Sweden 24 Rare Disease Ghana |
| AuthorAffiliation_xml | – name: 24 Rare Disease Ghana Initiative , Accra , Ghana – name: 1 Center of Excellence on Nephrologic, Rheumatologic, and Rare Diseases (ERK-Net, ERN-Reconnect, and RITA-ERN Member) with Nephrology and Dialysis Unit, Coordinating Center of Piedmont, Valle d’Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, San Giovanni Bosco Hub Hospital, University of Turin , Turin , Italy – name: 25 Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital , Boston, MA , United States – name: 4 Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa , Kinshasa , Democratic Republic of Congo – name: 8 Rare Care, Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children's Hospital , Perth, WA , Australia – name: 26 Rare Diseases Research Institute (IIER), SpainUDP, Instituto de Salud Carlos III (ISCIII) , Madrid , Spain – name: 19 School of Medicine, Universidad San Francisco de Quito , Quito , Ecuador – name: 22 Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University , Bangkok , Thailand – name: 23 National Institutes of Health, National Human Genome Research Institute , Bethesda, MD , United States – name: 12 House of Rares, Department of Genetics UFRGS and DASA, Medical Genetics Service, HCPA , Porto Alegre , Brazil – name: 3 National Center Rare Diseases - Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità , Rome , Italy – name: 7 Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad , Islamabad , Pakistan – name: 18 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital , New Delhi , India – name: 6 ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University , Istanbul , Türkiye – name: 20 CSIR Institute of Genomics and Integrative Biology , New Delhi , India – name: 21 Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital and Paediatric ACP, Duke-NUS Medical School, and SingHealth Duke-NUS Institute of Precision Medicine , Singapore , Singapore – name: 16 Department of Medical Genetics, School of Medicine, University of Pécs , Pécs , Hungary – name: 13 International Laboratory for Human Genome Research, Universidad Nacional Autonoma de Mexico , Queretaro , Mexico – name: 2 National Centre for Rare Diseases, Istituto Superiore di Sanità , Rome , Italy – name: 5 National Center for Advancing Translational Sciences, National Institutes of Health , Bethesda, MD , United States – name: 11 Department of Anatomy, Genetics, and Biomedical Informatics, Faculty of Medicine, University of Colombo , Colombo , Sri Lanka – name: 9 Wilhelm Foundation , Stockholm , Sweden – name: 15 Faculté de Médecine et d'Odontostomatologie, l'Université des Sciences, des Techniques et des Technologies de Bamako , Bamako , Mali – name: 17 Department of Child and Adolescent Medicine, Tbilisi State Medical University , Tbilisi , Georgia – name: 10 Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila , Manila , Philippines – name: 14 Georgian Foundation for Genetic and Rare Diseases (GeRaD), School of Medicine, New Vision University , Tbilisi , Georgia |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/40078755$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1007/s40620-020-00898-8 10.1186/s13023-018-0762-1 10.1186/s13023-022-02530-3 10.1186/s13073-021-00855-5 10.1038/s41572-024-00505-1 10.17504/protocols.io.5qpvorwdzv4o/v1 10.3390/ijerph19116456 10.1136/bmj.39588.334630.DB 10.1111/j.1365-2796.2006.01666.x 10.3389/fpubh.2023.1248260 10.1038/s41587-023-01724-9 10.1371/journal.pone.0288875 10.4415/ANN_11_01_17 10.1016/j.ymgme.2015.11.003 10.1016/j.jval.2015.05.008 10.1038/d41573-019-00180-y 10.1038/s41431-019-0508-0 10.1016/j.molmed.2021.12.002 10.1038/449157a |
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| Copyright | Copyright © 2025 Baldovino, Sciascia, Carta, Salvatore, Cellai, Ferrari, Lumaka, Groft, Alanay, Azam, Baynam, Cederroth, la Paz, Dissanayake, Giugliani, Gonzaga-Jauregui, Hettiarachchi, Kvlividze, Landoure, Makay, Melegh, Ozbek, Pagava, Puri, Romero, Scaria, Jamuar, Shotelersuk, Roccatello, Gahl, Wiafe, Bodamer, Posada and Taruscio. Copyright © 2025 Baldovino, Sciascia, Carta, Salvatore, Cellai, Ferrari, Lumaka, Groft, Alanay, Azam, Baynam, Cederroth, la Paz, Dissanayake, Giugliani, Gonzaga-Jauregui, Hettiarachchi, Kvlividze, Landoure, Makay, Melegh, Ozbek, Pagava, Puri, Romero, Scaria, Jamuar, Shotelersuk, Roccatello, Gahl, Wiafe, Bodamer, Posada and Taruscio. 2025 Baldovino, Sciascia, Carta, Salvatore, Cellai, Ferrari, Lumaka, Groft, Alanay, Azam, Baynam, Cederroth, la Paz, Dissanayake, Giugliani, Gonzaga-Jauregui, Hettiarachchi, Kvlividze, Landoure, Makay, Melegh, Ozbek, Pagava, Puri, Romero, Scaria, Jamuar, Shotelersuk, Roccatello, Gahl, Wiafe, Bodamer, Posada and Taruscio |
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| Keywords | healthcare disparities undiagnosed rare diseases (URDs) people living with URDs (PLURDs) genomic diagnosis advocacy groups diagnostic journey |
| Language | English |
| License | Copyright © 2025 Baldovino, Sciascia, Carta, Salvatore, Cellai, Ferrari, Lumaka, Groft, Alanay, Azam, Baynam, Cederroth, la Paz, Dissanayake, Giugliani, Gonzaga-Jauregui, Hettiarachchi, Kvlividze, Landoure, Makay, Melegh, Ozbek, Pagava, Puri, Romero, Scaria, Jamuar, Shotelersuk, Roccatello, Gahl, Wiafe, Bodamer, Posada and Taruscio. 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. |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Reviewed by: Zygmunt F. Dembek, Battelle, United States Joanne Adelberg, Howard University, United States These authors have contributed equally to this work Edited by: Amy Brower, Creighton University, United States |
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| References_xml | – volume: 34 start-page: 1767 year: 2021 ident: ref12 article-title: Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience publication-title: J Nephrol doi: 10.1007/s40620-020-00898-8 – volume: 13 start-page: 762 year: 2018 ident: ref7 article-title: Characteristics of drugs for ultra-rare diseases versus other rare diseases in HTA submissions made to the CADTH CDR publication-title: Orphanet J Rare Dis doi: 10.1186/s13023-018-0762-1 – volume: 17 start-page: 418 year: 2022 ident: ref11 article-title: Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry publication-title: Orphanet J Rare Dis doi: 10.1186/s13023-022-02530-3 – volume: 13 start-page: 40 year: 2021 ident: ref18 article-title: Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients publication-title: Genome Med doi: 10.1186/s13073-021-00855-5 – volume: 10 start-page: 13 year: 2024 ident: ref20 article-title: Rare diseases: challenges and opportunities for research and public health publication-title: Nat Rev Dis Primers doi: 10.1038/s41572-024-00505-1 – year: 2023 ident: ref17 article-title: CORED (COnsolited creteria for REporting qualitative research) publication-title: Checklist Procololsio doi: 10.17504/protocols.io.5qpvorwdzv4o/v1 – volume: 19 start-page: 6456 year: 2022 ident: ref13 article-title: Diagnostic process in rare diseases: determinants associated with diagnostic delay publication-title: Int J Environ Res Public Health doi: 10.3390/ijerph19116456 – volume-title: Ultra Orphan Drugs year: 2004 ident: ref6 – volume: 336 start-page: 1149 year: 2008 ident: ref15 article-title: Undiagnosed diseases are focus of new NIH programme publication-title: BMJ doi: 10.1136/bmj.39588.334630.DB – volume: 260 start-page: 1 year: 2006 ident: ref4 article-title: A journey of hope: lessons learned from studies on rare diseases and orphan drugs publication-title: J Intern Med doi: 10.1111/j.1365-2796.2006.01666.x – volume: 11 start-page: 1248260 year: 2023 ident: ref16 article-title: Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators publication-title: Front Public Health doi: 10.3389/fpubh.2023.1248260 – volume: 41 start-page: 441 year: 2023 ident: ref19 article-title: Personalized medicine is having its day publication-title: Nat Biotechnol doi: 10.1038/s41587-023-01724-9 – volume: 18 start-page: e0288875 year: 2023 ident: ref14 article-title: Psychosocial impact at the time of a rare disease diagnosis publication-title: PLoS One doi: 10.1371/journal.pone.0288875 – volume: 47 start-page: 83 year: 2011 ident: ref1 article-title: Rare diseases and orphan drugs publication-title: Ann Ist Super Sanita doi: 10.4415/ANN_11_01_17 – volume: 116 start-page: 223 year: 2015 ident: ref10 article-title: Undiagnosed diseases network international (UDNI): white paper for global actions to meet patient needs publication-title: Mol Genet Metab doi: 10.1016/j.ymgme.2015.11.003 – volume: 18 start-page: 906 year: 2015 ident: ref2 article-title: Rare disease terminology and definitions—a systematic global review: report of the ISPOR rare disease special interest group publication-title: Value Health doi: 10.1016/j.jval.2015.05.008 – volume: 19 start-page: 77 year: 2020 ident: ref3 article-title: How many rare diseases are there? publication-title: Nat Rev Drug Discov doi: 10.1038/d41573-019-00180-y – volume: 28 start-page: 165 year: 2020 ident: ref5 article-title: Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database publication-title: Eur J Hum Genet doi: 10.1038/s41431-019-0508-0 – volume: 28 start-page: 87 year: 2022 ident: ref8 article-title: Meeting the needs of patients with ultra rare diseases publication-title: Trends Mol Med doi: 10.1016/j.molmed.2021.12.002 – volume: 330 start-page: 376 year: 2005 ident: ref9 article-title: Neglected diseases publication-title: BMJ doi: 10.1038/449157a |
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| SubjectTerms | advocacy groups diagnostic journey genomic diagnosis Global Health healthcare disparities Humans people living with URDs (PLURDs) Public Health Rare Diseases - diagnosis Surveys and Questionnaires Undiagnosed Diseases - diagnosis Undiagnosed Diseases - epidemiology undiagnosed rare diseases (URDs) |
| Title | A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions |
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