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. 2022 Dec 19;17(1):441.
doi: 10.1186/s13023-022-02527-y.

Rare disease education in Europe and beyond: time to act

Birute Tumiene  1 , Harm Peters  2   3 , Bela Melegh  4 , Borut Peterlin  5 , Algirdas Utkus  1   3 , Natalja Fatkulina  6 , György Pfliegler  7 , Holm Graessner  8   9 , Sanja Hermanns  8   9 , Maurizio Scarpa  10 , Jean-Yves Blay  11 , Sharon Ashton  12 , Lucy McKay  13 , Gareth Baynam  14   15   16
Affiliations

Rare disease education in Europe and beyond: time to act

Birute Tumiene et al. Orphanet J Rare Dis. .

Abstract

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient. In recent years, many educational resources on rare diseases have been developed, however, awareness of these resources is still limited and rare disease education is still not sufficiently taken into account by some crucial stakeholders as academia and professional organizations. Therefore, there is a need to fundamentally rethink rare disease education and HWF development across the whole spectrum from students to generalists, specialists and experts, to engage and empower PLWRD, their families and advocates, and to work towards a common coherent and complementary strategy on rare disease education and training in Europe and beyond. Special consideration should be also given to the role of nurse coordinators in care coordination, interprofessional training for integrated multidisciplinary care, patient and family-centered education, opportunities given by digital learning and fostering of social accountability to enforce the focus on socially-vulnerable groups such as PLWRD. The strategy has to be developed and implemented by multiple rare disease education and training providers: universities, medical and nursing schools and their associations, professional organizations, European Reference Networks, patient organizations, other organizations and institutions dedicated to rare diseases and rare cancers, authorities and policy bodies.

Keywords: Highly-specialized knowledge; Interprofessional learning; Medical education and training; Patient empowerment; People living with rare disorders; Rare disease awareness; Social accountability.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Principle of pyramid in rare disease education and training. The basis of the pyramid comprises a general knowledge base and includes vast groups of stakeholders as students and general practitioners; the top of the pyramid refers to highly-specialized knowledge and knowledge generation and includes experts and thought leaders
See this image and copyright information in PMC

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