Rare disease education in Europe and beyond: time to act

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.

Unlocking the potential of genetic research in pulmonary arterial hypertension: Insights from clinicians, researchers, and study team

“…Investing in comprehensive training and resources for clinical teams emerged as a pivotal lesson, ensuring successful recruitment and enabling accurate data collection, interpretation, and dissemination of study results. Although support in areas where expertise may be lacking was sought within the study network, rare disease education remains an unmet need 15 . Initiatives such as NHS England Genomics Education, Eurordis—Rare Disease Europe in the EU, or the Rare Disease Clinical Research Network in the United States may provide additional resources and expertise.…”

A holistic approach to fragile X syndrome integrated guidance for person‐centred care

“…Services have been perceived by families as slow to respond, poorly co‐ordinated, and communicating badly with each other. Families report having to fight for services and feeling that their worries were ignored or disbelieved unless their specific concerns were observed by the clinician (Tumiene et al, 2022). Families also report being discharged very quickly from specialists, with a sense that there is little that can be done to help the child with FXS, that is, their difficulties are seen as an inevitable ‘part of the fragile X diagnosis’.…”

Precision medicine in rare diseases: What is next?

“…The systematic incorporation of genomics and precision medicine into the training curriculums of all health care professionals is crucial to ensure that the next generation of health care professionals is trained to manage genetic information on daily basis. At the same time, high‐quality continuing medical education and continuing professional development programs are necessary for training existing health professionals who order genomic tests and make decisions about posttest interventions, including knowledge of available targeted treatment or ongoing clinical trials [107, 108]. One current initiative is Global Nursing Network for RDs that was founded during a roundtable meeting held in Singapore in March 2023 to enhance the skills of practicing nurses globally in caring for patients with rare and undiagnosed diseases.…”