Rare diseases under different levels of economic analysis: current activities, challenges and perspectives

Cannizzo, Sara; Lorenzoni, Valentina; Palla, Ilaria; Pirri, Salvatore; Trieste, Leopoldo; Triulzi, Isotta; Turchetti, Giuseppe

doi:10.1136/rmdopen-2018-000794

Cited by 36 publications

(23 citation statements)

References 45 publications

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“…Overall, these results correspond to the known high heterogeneity of RDs [42][43][44]. As an example, the to improve research and care in rare or complex diseases or conditions [45].…”

Section: Center Guides and Rd Experts As Potential Userssupporting

confidence: 76%

Interviews with experts in Rare Diseases for the development of Clinical Decision Support System software - a qualitative study

Schaaf

Prokosch

Boeker

et al. 2020

Preprint

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Background Patients with a rare disease (RD) are often diagnosed too late or not at all. Clinical decision support systems (CDSSs) could support the diagnostic process in rare diseases (RDs). The MIRACUM (Medical Informatics in Research and Medicine) consortium, which is one of four funded consortia in the German Medical Informatics Initiative, will develop a CDSS for RDs based on distributed clinical data from ten university hospitals. This qualitative study aims to investigate (1) the relevant organizational conditions for the operation of a CDSS for RDs, (2) which data is necessary for decision support, and (3) the appropriate user group for such a CDSS. Methods Interviews were carried out with RDs experts. Participants were recruited from staff physicians at the Rare Disease Centers (RDCs) at the MIRACUM locations, which offer diagnosis and treatment of RDs. An interview guide was developed with a category-guided deductive approach. The interviews were recorded on an audio device and then transcribed into written form. We continued data collection until all interviews were completed. Afterwards, data analysis was performed using Mayring’s qualitative content analysis approach. Results A total of seven experts were included in the study, from seven of the eight MIRACUM locations which have established an RDC. The results show that administrative staff and physicians from RDC B-centers, representing different medical specialties, are involved in the diagnostic process. The experts cited various software programs used for diagnostic support and considered both physicians and experts from the B-centers to be potential users of a CDSS. Furthermore, the experts explained that RDs exist which cannot be fully differentiated, but rather described only by their overall symptoms or findings: diagnosis is dependent on the disease or disease group. At the end of the diagnostic process, most centers prepare a summary of the patient case. Conclusions This qualitative study is a first step towards establishing the requirements for the development of a CDSS for RDs. However, further research is necessary to create solutions by also including the experts on RDs.

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“…Overall, these results correspond to the known high heterogeneity of RDs [42][43][44]. As an example, the to improve research and care in rare or complex diseases or conditions [45].…”

Section: Center Guides and Rd Experts As Potential Userssupporting

confidence: 76%

Interviews with experts in Rare Diseases for the development of Clinical Decision Support System software - a qualitative study

Schaaf

Prokosch

Boeker

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…Overall, these results correspond to the known high heterogeneity of RDs [42][43][44]. As an example, the European Reference Networks (ERNs) are subdivided into 24 different reference networks on different disease groups, e.g.…”

Section: General Data Sets For Rds Are Not Possiblesupporting

confidence: 70%

Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study

Schaaf

Prokosch

Boeker

et al. 2020

BMC Med Inform Decis Mak

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Background Patients with rare diseases (RDs) are often diagnosed too late or not at all. Clinical decision support systems (CDSSs) could support the diagnosis in RDs. The MIRACUM (Medical Informatics in Research and Medicine) consortium, which is one of four funded consortia in the German Medical Informatics Initiative, will develop a CDSS for RDs based on distributed clinical data from ten university hospitals. This qualitative study aims to investigate (1) the relevant organizational conditions for the operation of a CDSS for RDs when diagnose patients (e.g. the diagnosis workflow), (2) which data is necessary for decision support, and (3) the appropriate user group for such a CDSS. Methods Interviews were carried out with RDs experts. Participants were recruited from staff physicians at the Rare Disease Centers (RDCs) at the MIRACUM locations, which offer diagnosis and treatment of RDs. An interview guide was developed with a category-guided deductive approach. The interviews were recorded on an audio device and then transcribed into written form. We continued data collection until all interviews were completed. Afterwards, data analysis was performed using Mayring’s qualitative content analysis approach. Results A total of seven experts were included in the study. The results show that medical center guides and physicians from RDC B-centers (with a focus on different RDs) are involved in the diagnostic process. Furthermore, interdisciplinary case discussions between physicians are conducted. The experts explained that RDs exist which cannot be fully differentiated, but rather described only by their overall symptoms or findings: diagnosis is dependent on the disease or disease group. At the end of the diagnostic process, most centers prepare a summary of the patient case. Furthermore, the experts considered both physicians and experts from the B-centers to be potential users of a CDSS. The experts also have different experiences with CDSS for RDs. Conclusions This qualitative study is a first step towards establishing the requirements for the development of a CDSS for RDs. Further research is necessary to create solutions by also including the experts on RDs.

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“…Following these considerations and taking into account the work already in place in the ERN ReCONNET on organisational and economic aspects of RCD [ 15 ], it appeared clear that one of the needs to be prioritised was represented by the development of a specific methodology aimed at defining organisational PCP models across Europe.…”

Section: Introductionmentioning

confidence: 99%

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

Talarico

Cannizzo

Lorenzoni

et al. 2020

Orphanet J Rare Dis

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Background In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases and conditions that require highly specialized treatment and a concentration of knowledge and resources. The ERN on rare and complex connective tissue and musculoskeletal diseases (ERN ReCONNET) is one of the 24 ERNs approved that aims to improve the management of Rare and Complex Connective Tissue and Musculoskeletal Diseases. Objective The RarERN Path methodology aims to create a single reference organisational model for patients’ care pathways which, if applied in different contexts, helps to ensure an improved, cost-effective and patient-centred equal care to rare and complex diseases. Methods Starting from existing standard methods for the creation and elaboration of patients’ care pathways, a specific methodology was created in order to take advantage of the distinctive and peculiar characteristics of the ERNs. Specifically, the development of the RarERN Path methodology involved different stakeholders: health economists, clinicians and researchers expert in rare and complex diseases, communication experts, experts in patients’ involvement and narrative medicine and policy-makers. Results The RarERN Path methodology foresees six consecutive phases, each with different and specific aims. Specifically, the six phases are represented by: Phase 1—mapping of existing patients’ care pathways and patients’ stories; Phase 2—design of an optimised common patients’ care pathway; Phase 3—consensus on an optimised common patients’ care pathway; Phase 4—key performance indicators definition; Phase 5—refinement; Phase 6—pilot phase (optional). Conclusion The application of RarERN Path to the different disease-specific and geographical contexts would help to ensure an improved, cost-effective and patient-centred equal care to rare and complex diseases across Europe as well as a possible tangible action towards the integration of ERNs into the different European healthcare systems.

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Rare diseases under different levels of economic analysis: current activities, challenges and perspectives

Cited by 36 publications

References 45 publications

Interviews with experts in Rare Diseases for the development of Clinical Decision Support System software - a qualitative study

Interviews with experts in Rare Diseases for the development of Clinical Decision Support System software - a qualitative study

Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study

RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

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