Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis
Abstract Background Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RD in public settings proves challenging due to the limited nature of existing evidence. Rare conditions require...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02892-2 |
| _version_ | 1797451451804418048 |
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| author | Soho Yoon Minjee Lee Hoi-In Jung M. Mahmud Khan So-Yoon Kim Hannah Kim Sophia Wasti |
| author_facet | Soho Yoon Minjee Lee Hoi-In Jung M. Mahmud Khan So-Yoon Kim Hannah Kim Sophia Wasti |
| author_sort | Soho Yoon |
| collection | DOAJ |
| description | Abstract Background Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RD in public settings proves challenging due to the limited nature of existing evidence. Rare conditions require the involvement of a wide range of stakeholders in order to promote general awareness and garner political support. Consequently, it is critically important to identify trends in the various types of research focusing on rare disease stakeholders, including the specific topics or issues to be included in surveys and studies focused on RD stakeholders. This systematic review and thematic analysis analyses the existing literature based on RD surveys, including the stakeholders involved, and proposes potential research priorities and initiatives for policy-making related to RD. Methods Articles were downloaded and analyzed from across five electronic databases (PubMed, EMBASE, Cochrane Central, Web of Science, and CINHAL) and 115 studies were included. Results Across 115 studies, the main research participants were patients and/or caregivers (n = 77, 67.0%), health professionals (n = 18, 15.7%), and the public (n = 7, 6.1%). The studies discussed RDs in general (n = 46, 40.0%), endocrine, nutritional, and metabolic diseases (n = 20, 17.4%) and other RDs. Experiences with RD were examined by more than half of the selected studies (n = 74, 64.3%), followed by the opinions of stakeholders (n = 24, 20.9%). Most of the studies used surveys in order to collect relevant data (n = 114, 99.1%). Additionally, the majority of the studies were conducted in high-income countries (n = 92, 80.0%) and rarely in middle and low-income countries (n = 12, 13.8%). Conclusion Stakeholder research on RD reveals that there are significant instances of unmet needs and various challenges faced by the medical system in dealing with RDs. Furthermore, public awareness and support is critical to ensuring political feasibility of increasing national-level investments for RDs and development of medical products and treatment. |
| first_indexed | 2024-03-09T14:54:51Z |
| format | Article |
| id | doaj.art-11c62c8919a745ceb872264e940fb0b2 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-09T14:54:51Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-11c62c8919a745ceb872264e940fb0b22023-11-26T14:13:06ZengBMCOrphanet Journal of Rare Diseases1750-11722023-11-0118111210.1186/s13023-023-02892-2Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysisSoho Yoon0Minjee Lee1Hoi-In Jung2M. Mahmud Khan3So-Yoon Kim4Hannah Kim5Sophia Wasti6Asian Institute for Bioethics and Health Law, Yonsei UniversitySimons Cancer Institute, Southern Illinois University School of MedicinePreventive Dentistry and Public Oral Health, Yonsei University College of DentistryDepartment of Health Policy and Management, College of Public Health, University of GeorgiaAsian Institute for Bioethics and Health Law, Yonsei UniversityAsian Institute for Bioethics and Health Law, Yonsei UniversityAsian Institute for Bioethics and Health Law, Yonsei UniversityAbstract Background Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RD in public settings proves challenging due to the limited nature of existing evidence. Rare conditions require the involvement of a wide range of stakeholders in order to promote general awareness and garner political support. Consequently, it is critically important to identify trends in the various types of research focusing on rare disease stakeholders, including the specific topics or issues to be included in surveys and studies focused on RD stakeholders. This systematic review and thematic analysis analyses the existing literature based on RD surveys, including the stakeholders involved, and proposes potential research priorities and initiatives for policy-making related to RD. Methods Articles were downloaded and analyzed from across five electronic databases (PubMed, EMBASE, Cochrane Central, Web of Science, and CINHAL) and 115 studies were included. Results Across 115 studies, the main research participants were patients and/or caregivers (n = 77, 67.0%), health professionals (n = 18, 15.7%), and the public (n = 7, 6.1%). The studies discussed RDs in general (n = 46, 40.0%), endocrine, nutritional, and metabolic diseases (n = 20, 17.4%) and other RDs. Experiences with RD were examined by more than half of the selected studies (n = 74, 64.3%), followed by the opinions of stakeholders (n = 24, 20.9%). Most of the studies used surveys in order to collect relevant data (n = 114, 99.1%). Additionally, the majority of the studies were conducted in high-income countries (n = 92, 80.0%) and rarely in middle and low-income countries (n = 12, 13.8%). Conclusion Stakeholder research on RD reveals that there are significant instances of unmet needs and various challenges faced by the medical system in dealing with RDs. Furthermore, public awareness and support is critical to ensuring political feasibility of increasing national-level investments for RDs and development of medical products and treatment.https://doi.org/10.1186/s13023-023-02892-2Rare diseasesStakeholdersSurveyPatientsCaregiversHealthcare professionals |
| spellingShingle | Soho Yoon Minjee Lee Hoi-In Jung M. Mahmud Khan So-Yoon Kim Hannah Kim Sophia Wasti Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis Orphanet Journal of Rare Diseases Rare diseases Stakeholders Survey Patients Caregivers Healthcare professionals |
| title | Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis |
| title_full | Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis |
| title_fullStr | Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis |
| title_full_unstemmed | Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis |
| title_short | Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis |
| title_sort | prioritization of research engaged with rare disease stakeholders a systematic review and thematic analysis |
| topic | Rare diseases Stakeholders Survey Patients Caregivers Healthcare professionals |
| url | https://doi.org/10.1186/s13023-023-02892-2 |
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