Education and Information Need for Emergency Physicians About Rare Diseases in China

Background: Rare diseases are serious and chronic disease that affect no more than 1 person in 2000. The patients suffering from RD may come to emergency department for life-threatening symptoms, such as acute aortic dissection, intracranial hemorrhage, and severe respiratory distress. Diagnostic delay of rare disease patients is common and often caused by low rare disease awareness among physicians. The main aim of this study was to investigate the Chinese emergency physicians’ basic knowledge, information access and educational needs regarding rare diseases. An online questionnaire was completed by Chinese emergency physicians during January and March 2021. Methods and Results: A total of 539 emergency physicians responded to the questionnaire-based study, including 200 females and 339 males. More than half of respondents were from Tertiary A hospital and had engaged in medical clinical work more than 10 years. Only 4.27% of respondents correctly estimated the prevalence of rare diseases. A few respondents knew the exact number of RD in the rst ocial list of rare diseases in 2018. 98.5% of respondents rated their knowledge about rare diseases as rare or insucient. Most of emergency physicians preferred to getting information by search engine instead of specialized websites of rare diseases. Lack of practice guidelines or consensus and were considered as the most important reason for diagnostic delay of RD. Practice guidelines or consensus and professional websites on rare diseases were urgently needed for emergency physicians. Conclusion: The investigation shows poor knowledge of emergency physicians regarding rare diseases. Practice guidelines and professional websites on rare diseases were the prominently urgent needs for emergency physicians. Specialized RD courses should also be added in medical education.


Introduction
Rare diseases (RDs) are diseases affect no more than one person in 2000, According to the European Union (EU), always are serious, chronic, and often life-threatening conditions [1]. It has been estimated that from 6 to 8% of the population will be affected by a rare disease [2], this means that there are at least 16.8 million rare disease patients in China. Due to the high clinical complexity, patients with rare diseases often face lengthy diagnostic delays, some families seeing between 3 and 10 different doctors and waiting >5 years for a de nitive diagnosis [3,4].
Previous studies have shown that health care professionals and medical students lack training and experience on RD [2,5]. Our study aims to describe Chinese emergency physicians' clinical practice regarding rare diseases, their information-seeking behaviors and their educational needs and preferences.

Materials And Methods
The study was conducted between January and March 2021 among emergency physicians of China. A separate online data-collection questionnaire was used for survey, using a web platform(www.wjx.cn), which permits centralized data collection and limit repetition by mobile number. The survey was conducted with a standard questionnaire that was constructed from themes based on a review of the literature and the study aim. It included 30 questions: 6 questions that addressed their demographic data and 24 items referring to respondents' knowledge of and attitudes towards RD. The questionnaire consisted of four groups of questions. The rst group were six questions referred to demographic information, including gender, career length, hospital level, technical titles, licensed province and whether the respondents had any advanced training experience in other hospital.
The second group of thirteen questions concentrated on the emergency physicians' knowledge of RD. The respondents were asked about the incidence and number of RD. Three questions referred to the current situation of RD in China, including the estimated number of RD patients, if there was any national register system and the exact number of RD in the rst list of rare diseases in 2018. Four items related to orphan drug, hereditary and the most common age of onset of RD. In addition, all respondents were asked to indicate which RD they had met from a list of twenty-seven RD. The respondents were asked if they had rst diagnosed any RD, in 140 respondent who had rst diagnosed RD, they were asked the number of RD they had seen in their career and to indicate which RD they rst diagnosed from a list of twenty RD.
The third group were six questions related to the respondents' self-assessment and information access of RD. The respondents were asked how they perceive their knowledge about RD, whether they had any classes on RD, how they learn about it and which access was the most impressed. Two questions referred to which website they prefer to learning about RD and which professional website of RD they had used.
The last group of ve questions referred to emergency physician's needs of RD information. The respondents were asked if they would like to learn more about RD and which reason delayed the diagnosis of RD. The authors also wanted to know which aspect of RD the emergency physicians prefer to learn more. Finally, the respondents were asked which specialty need more in-depth training on RD and whether it is necessary to add RD course to their medical school education. Ethics approval and research governance approval were obtained from Peking Union Medical College Hospital.
Statistical testing was performed using SPSS Statistics 25.0. The respondents were divided into different groups according to career length, hospital, and title. The rate of correct was the percent of respondents choosing the right answer in each group. The rate of correct were analyzed with the chi-square test to reveal statistical differences (p < 0.05).

1.Demography
A total of 539 emergency physicians answered the questionnaire. All respondents were from China, including 27 of 34 Chinese provincial administrative regions, with the top ve in Hubei (83, 15 Out of the 140 respondents, 98 (70%) had seen less than ten types of RD, 32 (22.86%) had ten to twenty types and only 10 (7.14%) had more than twenty types. For six core questions on RD, the rate of correct of respondents from different groups were showed in Figure 1. The result of chi-square test shows that from different career length, hospital and title groups, the respondents have similar knowledge rate of RD (p >0.05). Only in the correct of questions "Was there any national register system for RD in China", the respondents from secondary hospital have a lower rate than those from tertiary A or B hospital (p <0.05), and the rate of correct has no statistical difference between group tertiary A and tertiary B (p >0.05). The respondents were presented a list of twenty-seven rare diseases and asked to select those they had seen or rst diagnosed (Table 3). For the 539 responded emergency physicians, the most common RD they had seen were Marfan syndrome (49.17%), Hemophilia (46.75%), Idiopathic pulmonary brosis (46.01%), Multiple sclerosis (41.37%) and Idiopathic pulmonary arterial hypertension (40.63%). For the 140 emergency physicians who had rst diagnosed RD, the most frequent RD they rst diagnosed were Marfan syndrome (38.57%), Generalized myasthenia gravis (34.29%), Idiopathic pulmonary arterial hypertension (30%), Idiopathic pulmonary brosis (29.29%) and Multiple sclerosis (24.29%).

3.Self-assessment and information access
Self-assessment and information access of RD were listed in ) respondents had used national rare disease registry system of China. The answers of "How did you learn about rare diseases?" and "Which websites do you prefer to learn more about RD?" were showed in Figure 2, which were distinguished by different career length and hospital groups. As career length was longer, the proportion of learning RD by studying in medical school was lower. The respondents with longer career length had lesser preference to learn RD through pubmed. The respondents from secondary hospital presented less proportion of studying RD in medical school or through academic website, such as pubmed, CNKI, VIP and WanFang, but high proportion of learning RD by advanced training in other hospital and attending academic conferences.

4.Information needs
Emergency physician' needs of RD information were taken in Table 5. Almost all the respondents (92.21%) want to learn more about RD. 450 (83.49%) respondents thought lack of practice guidelines or consensus delayed the diagnosis of rare disease. And 466 (86.46%) preferred to learn more information about RD by diagnostic guidelines or consensus. The distribution of information needs with the answer of "Which aspect of rare diseases do you prefer to learn more?" were displayed by different career length and hospital groups (Figure 3). Each group of career length or hospital had similar proportion of information need. The respondents with more than 15 years of career or from secondary hospital had high proportion in needing relevant professional websites and the hospital or specialist that can refer to.
Half of the respondents (51.21%) thought every physician regardless of specialization need in-depth training on RD. Moreover, 254 (47.12%) respondents thought emergency physicians need more training about RD, and 475 (88.13%) declared it was necessary to add rare disease courses in medical school education.

1.Basic knowledge
The questionnaire results indicated that emergency physicians have poor knowledge of RD and that the urgent need of RD information does exist. Although most respondents had medical practice more than ve years and half of them had advanced training experience, they lacked basic knowledge about RD.
Only 4.27% respondents knew that a disease with an incidence lower than 1 in 2000 was de ned as rare diseases [7]. More than half of respondents have no idea about the epidemiology, register system and the rst o cial list of RD in China. 18% emergency physicians knew the that 80% of RD were hereditary, while 27.27% were clear about that the onset of RD most frequently appeared in childhood.
To the best of our knowledge, this is the rst research concentrated on the emergency physicians' education and information about rare diseases in China. The similarly poor cognitive level about RD was also reported in physicians [6, 8], surgeon [9], medical students [5], nurses and nursing students [10].In China, emergency physicians deal with all patients in emergency cases and are responsible for further treatment and referrals, if emergency physicians lack of knowledge of RD, RD patients with acute symptoms may lose the chance of diagnosis. In our research, only a quarter of respondents had experience on rst diagnosing RD (140 ,25.97%).

Self-assessment and information access
Of emergency physicians, 98.5% rated their knowledge about RD as rare or insu cient, while Walkowiak et al. [11] reported 94.6% of physicians their perceived knowledge on RDs as insu cient or very poor. Although rare diseases are chronic disease and mostly diagnosed by the specialists, the patients suffering from RD could have come to emergency department for life-threatening symptoms before the rst diagnosis of RD. Marfan syndrome could be not diagnosed until an individual present with an acute aortic dissection [12]. For Hemophilia, intracranial hemorrhage is a potentially deadly complication [13,14]. The patients could present with severe respiratory distress when suffering from idiopathic pulmonary brosis, multiple sclerosis, idiopathic pulmonary arterial hypertension, or generalized myasthenia gravis [15,16]. For our emergency physicians, clinic work and academic conference were the most common and impressed access to learn about rare disease. Baidu (a common search engine in China, http://www.baidu.com/) and DXY (a platform for professional medical communication in China, http://www.dxy.cn/) were the most popular websites. Only 3.71% of respondents preferred specialist website to learn more about RD and less than half had used the national rare disease registry system of China (https://www.nrdrs.org.cn/). We found that the respondents from secondary hospital presented less proportion of studying RD in medical school or through academic website but high proportion of learning RD by advanced training in other hospital and attending academic conferences, maybe secondary hospitals are closer to community hospitals, and there are fewer opportunities to acquire knowledge of rare diseases from daily work. The convenience and simplicity of information access seems to be the primary consideration for emergency physicians. Moreover, Pauer et al. [17] indicated that the quality of information on the Internet about RD is low.

3.Education and Needs
Diagnostic delay is one of the most common problems encountered while caring for RD patients

Limitations
This is a questionnaire-based research of emergency physicians. Some items might be inaccurate as these were answered on account of the respondents' memory and lacking objective medical records. The demographic distribution of respondents was different from all the emergency physicians. The emergency physicians who responded to this questionnaire may be more concerned with RD than those refused to answer. Thus, this study was limited by underlying inaccurate responses to questionnaires and possible selection bias.

Conclusion
In conclusion, the investigation shows poor knowledge and urgent information needs regarding RD in emergency physicians. It is imperative for public health system to improve the training on RD of emergency physicians, including add specialized RD courses in medical education, providing practice guidelines and popularizing professional websites on RD.

Declarations Authors' Contributions
Lingli Zhou, Jing Yang: substantial contributions to conception, design and writing.
Jun Xu: drafting the article and revising it. Figure 1 The knowledge rate of emergency physician on six core questions of RD. A. the rate of correct in each career length groups. B. the rate of correct in each hospital level groups. C. the rate of correct in each title groups.

Figures
* p <0.05, the respondents from secondary hospital have a lower knowledge rate than those from tertiary A or B hospital (p <0.05).

Figure 2
The information access of emergency physicians. A. the distribution of information access in each career length group. B. the distribution of preferential website in each career length group. C. the distribution of information access in each hospital group. D. the distribution of preferential website in each hospital group.

Figure 3
The information needs of emergency physicians. A. the distribution of information needs in each career length group. B. the distribution of information needs in each hospital group.