PMID- 37498666 OWN - NLM STAT- MEDLINE DCOM- 20230728 LR - 20230813 IS - 1438-8871 (Electronic) IS - 1439-4456 (Print) IS - 1438-8871 (Linking) VI - 25 DP - 2023 Jul 27 TI - The Minimum Data Set for Rare Diseases: Systematic Review. PG - e44641 LID - 10.2196/44641 [doi] LID - e44641 AB - BACKGROUND: The minimum data set (MDS) is a collection of data elements to be grouped using a standard approach to allow the use of data for clinical and research purposes. Health data are typically voluminous, complex, and sometimes too ambiguous to generate indicators that can provide knowledge and information on health. This complexity extends further to the rare disease (RD) domain. MDSs are essential for health surveillance as they help provide services and generate recommended population indicators. There is a bottleneck in international literature that reveals a global problem with data collection, recording, and structuring in RD. OBJECTIVE: This study aimed to identify and analyze the MDSs used for RD in health care networks worldwide and compare them with World Health Organization (WHO) guidelines. METHODS: The population, concept, and context methodology proposed by the Joanna Briggs Institute was used to define the research question of this systematic review. A total of 4 databases were reviewed, and all the processes were reported using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) methodology. The data elements were analyzed, extracted, and organized into 10 categories according to WHO digital health guidelines. The quality assessment used the STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) checklist. RESULTS: We included 20 studies in our review, 70% (n=14) of which focused on a specific health domain and 30% (n=6) of which referred to RD in general. WHO recommends that health systems and networks use standard terminology to exchange data, information, knowledge, and intelligence in health. However, there was a lack of terminological standardization of the concepts in MDSs. Moreover, the selected studies did not follow the same standard structure for classifying the data from their MDSs. All studies presented MDSs with limitations or restrictions because they covered only a specific RD, or their scope of application was restricted to a specific context or geographic region. Data science methods and clinical experience were used to design, structure, and recommend a fundamental global MDS for RD patient records in health care networks. CONCLUSIONS: Our study highlights the difficulties in standardizing and categorizing findings from MDSs for RD because of the varying structures used in different studies. The fundamental RD MDS designed in this study comprehensively covers the data needs in the clinical and management sectors. These results can help public policy makers support other aspects of their policies. We highlight the potential of our results to help strategic decisions related to RD. TRIAL REGISTRATION: PROSPERO CRD42021221593; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=221593. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.1016/j.procs.2021.12.034. CI - (c)Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Diego Bettiol Yamada, Milena Artifon, Amanda Maria Schmidt, Victoria Machado Scheibe, Domingos Alves, Temis Maria Felix. Originally published in the Journal of Medical Internet Research (https://www.jmir.org), 27.07.2023. FAU - Bernardi, Filipe Andrade AU - Bernardi FA AUID- ORCID: 0000-0002-9597-5470 AD - Health Intelligence Laboratory, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil. AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. FAU - Mello de Oliveira, Bibiana AU - Mello de Oliveira B AUID- ORCID: 0000-0002-2679-6858 AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. AD - Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil. AD - Federal University of Rio Grande do Sul, Porto Alegre, Brazil. FAU - Bettiol Yamada, Diego AU - Bettiol Yamada D AUID- ORCID: 0000-0001-6221-722X AD - Health Intelligence Laboratory, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil. AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. FAU - Artifon, Milena AU - Artifon M AUID- ORCID: 0000-0001-5203-4403 AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. AD - Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil. FAU - Schmidt, Amanda Maria AU - Schmidt AM AUID- ORCID: 0000-0002-7808-6719 AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. AD - Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil. FAU - Machado Scheibe, Victoria AU - Machado Scheibe V AUID- ORCID: 0000-0003-2033-9805 AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. AD - Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil. AD - Faculty of Medicine, Lutheran University of Brazil, Canoas, Brazil. FAU - Alves, Domingos AU - Alves D AUID- ORCID: 0000-0002-0800-5872 AD - Health Intelligence Laboratory, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil. AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. FAU - Felix, Temis Maria AU - Felix TM AUID- ORCID: 0000-0002-8401-6821 AD - Brazilian Rare Disease Network, Porto Alegre, Brazil. AD - Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review PT - Systematic Review DEP - 20230727 PL - Canada TA - J Med Internet Res JT - Journal of medical Internet research JID - 100959882 SB - IM MH - Humans MH - *Rare Diseases/therapy MH - *Administrative Personnel MH - Checklist MH - Data Science MH - Public Policy PMC - PMC10415943 OTO - NOTNLM OT - health care system OT - health network OT - minimum data set OT - public health OT - rare disease COIS- Conflicts of Interest: None declared. EDAT- 2023/07/27 13:10 MHDA- 2023/07/28 06:42 PMCR- 2023/07/27 CRDT- 2023/07/27 11:54 PHST- 2022/12/15 00:00 [received] PHST- 2023/06/27 00:00 [accepted] PHST- 2023/04/24 00:00 [revised] PHST- 2023/07/28 06:42 [medline] PHST- 2023/07/27 13:10 [pubmed] PHST- 2023/07/27 11:54 [entrez] PHST- 2023/07/27 00:00 [pmc-release] AID - v25i1e44641 [pii] AID - 10.2196/44641 [doi] PST - epublish SO - J Med Internet Res. 2023 Jul 27;25:e44641. doi: 10.2196/44641.