PDF(Pubmed)
Abstract：
BACKGROUND: An estimated 3.5 million people in the UK live with a rare disease however due to the rarity of each individual condition this is not currently reflected in mainstream medical education. As a result, common features of living with a rare condition include diagnostic delay, poor coordination of health and social care and lack of access to specialist care and treatment. This is well documented in reports published by patient advocacy groups collating the patient experience and has been highlighted by the Department of Health and Social Care in its UK Rare Diseases Framework. One of the four priority areas outlined in this policy published in 2021 is \'increasing awareness amongst healthcare professionals\'. Medics4RareDiseases (M4RD), a charity based in the UK, has proposed a disease-agnostic approach to educating doctors about rare disease, focusing on the common challenges experienced across this heterogeneous collection of conditions, rather than on the minutiae of each of the > 7000 rare conditions. A literature search using MEDLINE, PubMed Central and Bookshelf confirmed a lack of broad rare disease teaching in medical literature; none of the 10 final resources identified focused on the topic as a whole.
RESULTS: To address this, M4RD created the course \'Rare Disease 101\'. It is accessed online using a learning management system that is free, contains interactive lessons, hosts a discussion board and is easily updated. In the 29 months since going live, 942 individuals have registered with 204 having completed the course; early feedback from 33 respondents was unanimously positive (all participants rated at least good (76%: excellent)) demonstrating that both clinicians and patients can benefit from broad rare disease education. The course is freely available to all at https://learn.m4rd.org/ .
CONCLUSIONS: Disease-agnostic training about rare disease as a large patient population, focusing on its unique profile of unmet needs, is required. Rare Disease 101 provides a pragmatic approach to an educational challenge that leads to poor patient outcomes. Early results suggest that the educational programme is well-received but further evaluation and assessment is needed.
RESULTS: To address this, M4RD created the course \'Rare Disease 101\'. It is accessed online using a learning management system that is free, contains interactive lessons, hosts a discussion board and is easily updated. In the 29 months since going live, 942 individuals have registered with 204 having completed the course; early feedback from 33 respondents was unanimously positive (all participants rated at least good (76%: excellent)) demonstrating that both clinicians and patients can benefit from broad rare disease education. The course is freely available to all at https://learn.m4rd.org/ .
CONCLUSIONS: Disease-agnostic training about rare disease as a large patient population, focusing on its unique profile of unmet needs, is required. Rare Disease 101 provides a pragmatic approach to an educational challenge that leads to poor patient outcomes. Early results suggest that the educational programme is well-received but further evaluation and assessment is needed.
摘要：
背景：英国估计有350万人患有罕见疾病，但是由于每种情况的罕见性，目前主流医学教育中并未反映出这种情况。因此,患有罕见疾病的常见特征包括诊断延迟，卫生和社会护理协调不力，缺乏获得专科护理和治疗的机会。这在患者倡导组织发布的报告中得到了很好的记录，这些报告整理了患者的经历，卫生与社会关怀部在其英国罕见疾病框架中得到了强调。2021年发布的这项政策概述的四个优先领域之一是“提高医疗保健专业人员的认识”。Medics4RareDiseases(M4RD),一家总部设在英国的慈善机构，提出了一种与疾病无关的方法来教育医生了解罕见疾病，专注于在这个异构条件集合中经历的共同挑战，而不是在细节上的每一个>7000罕见的条件。使用MEDLINE进行文献检索，PubMedCentral和Bookshelf证实了医学文献中缺乏广泛的罕见疾病教学；确定的10个最终资源中没有一个集中在整个主题上。
结果：为了解决这个问题，M4RD创建了“罕见疾病101”课程。它使用免费的学习管理系统在线访问，包含交互式课程，主持一个讨论板，很容易更新。在上线后的29个月里，942人注册，204人完成了课程；33名受访者的早期反馈一致肯定（所有参与者的评价至少良好（76％：优秀）），表明临床医生和患者都可以从广泛的罕见疾病教育中受益。该课程可在https://learn免费提供给所有人。m4rd.org/.
结论：关于罕见疾病作为大量患者群体的疾病不可知培训，专注于其对未满足需求的独特特征，是必需的。罕见疾病101为导致患者预后不良的教育挑战提供了务实的方法。早期结果表明，教育方案很受欢迎，但需要进一步评估和评估。
结果：为了解决这个问题，M4RD创建了“罕见疾病101”课程。它使用免费的学习管理系统在线访问，包含交互式课程，主持一个讨论板，很容易更新。在上线后的29个月里，942人注册，204人完成了课程；33名受访者的早期反馈一致肯定（所有参与者的评价至少良好（76％：优秀）），表明临床医生和患者都可以从广泛的罕见疾病教育中受益。该课程可在https://learn免费提供给所有人。m4rd.org/.
结论：关于罕见疾病作为大量患者群体的疾病不可知培训，专注于其对未满足需求的独特特征，是必需的。罕见疾病101为导致患者预后不良的教育挑战提供了务实的方法。早期结果表明，教育方案很受欢迎，但需要进一步评估和评估。
