2022
DOI: 10.1186/s13023-022-02527-y
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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 … Show more

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Cited by 20 publications
(16 citation statements)
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References 76 publications
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“…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.…”
Section: Discussionmentioning
confidence: 99%
“…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.…”
Section: Discussionmentioning
confidence: 99%
“…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’.…”
Section: The Need For Guidelinesmentioning
confidence: 99%
“…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.…”
Section: How Do We Implement Precision Medicine For Rd In Clinical Pr...mentioning
confidence: 99%