Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients
Abstract Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts patients, families and health care system...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02337-2 |
| _version_ | 1811305807134851072 |
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| author | Galliano Zanello Chun-Hung Chan David A. Pearce IRDiRC Working Group |
| author_facet | Galliano Zanello Chun-Hung Chan David A. Pearce IRDiRC Working Group |
| author_sort | Galliano Zanello |
| collection | DOAJ |
| description | Abstract Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts patients, families and health care systems. The International Rare Diseases Research Consortium set up the multi-stakeholder Working Group on developing methodologies to assess the impact of diagnoses and therapies on rare disease patients. Using the patients’ journey on the diagnostic paradigm, the Working Group characterized a set of metrics, tools and needs required for appropriate data collection and establishment of a framework of methodologies to analyze the socio-economic burden of rare diseases on patients, families and health care systems. These recommendations are intended to facilitate the development of methodologies and to better assess the societal impact of rare diseases. |
| first_indexed | 2024-04-13T08:33:01Z |
| format | Article |
| id | doaj.art-0b5144fbb40947c9b552b841b285b8ce |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T08:33:01Z |
| publishDate | 2022-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-0b5144fbb40947c9b552b841b285b8ce2022-12-22T02:54:11ZengBMCOrphanet Journal of Rare Diseases1750-11722022-05-0117111010.1186/s13023-022-02337-2Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patientsGalliano Zanello0Chun-Hung Chan1David A. Pearce2IRDiRC Working GroupIRDiRC Scientific Secretariat, INSERMSanford ResearchSanford ResearchAbstract Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts patients, families and health care systems. The International Rare Diseases Research Consortium set up the multi-stakeholder Working Group on developing methodologies to assess the impact of diagnoses and therapies on rare disease patients. Using the patients’ journey on the diagnostic paradigm, the Working Group characterized a set of metrics, tools and needs required for appropriate data collection and establishment of a framework of methodologies to analyze the socio-economic burden of rare diseases on patients, families and health care systems. These recommendations are intended to facilitate the development of methodologies and to better assess the societal impact of rare diseases.https://doi.org/10.1186/s13023-022-02337-2Rare diseasesDiagnosisTherapiesSocio-economic impactPatientsFamilies |
| spellingShingle | Galliano Zanello Chun-Hung Chan David A. Pearce IRDiRC Working Group Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients Orphanet Journal of Rare Diseases Rare diseases Diagnosis Therapies Socio-economic impact Patients Families |
| title | Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients |
| title_full | Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients |
| title_fullStr | Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients |
| title_full_unstemmed | Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients |
| title_short | Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients |
| title_sort | recommendations from the irdirc working group on methodologies to assess the impact of diagnoses and therapies on rare disease patients |
| topic | Rare diseases Diagnosis Therapies Socio-economic impact Patients Families |
| url | https://doi.org/10.1186/s13023-022-02337-2 |
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