第六届北京罕见病学术大会暨2018京津冀罕见病学术大会征文（184）

Hai Song， Tangshan People’s Hospital of Hebei

Meizhu Feng， Tangshan People’s Hospital of Hebei

Jinyan Liu， Tangshan Scond Hospital of Hebei

Hongwei Si， Anhui medical university first affiliated hospital of Anhui

Bingjie Xie， Beijing JoinnPals institute of rare diseases

Dong Dong， Hong Kong Baptist University

Purpose

The purpose of this study has three folds: (1) to describe the current status of rare disease diagnosis and treatments in China; (2) to investigate possible causes for the problem of high misdiagnosis and undertreatment of rare diseases in China; and (3) to propose strategies and protocols that may help eliminate the high incidents of misdiagnosis and undertreatment on rare diseases in China.

Methods

The study was conducted in a prefecture-level city in north China in early 2017. Three major general hospitals of the city were selected as the primary research site.  A two-page questionnaire was constructed to measure the experience with and attitudes towards rare diseases among the doctors in the hospitals. A face-to-face interview was used to help the doctors complete the questionnaire. In the end， 124 doctors from 23 different departments consented to participate the study and filled out the questionnaire.  All data were entered into a database and analyzed by SPSS.

Results

Preliminary findings of the study are:

1.In general， the doctors’ knowledge about rare diseases is very limited. Only 9.5% of the participants have heard about “rare diseases”. The proportion of doctors who know that 80% of the rare diseases are genetically inherited is even lower. Only 1.7% of the total 124 doctors select the correct answer.

2.When the doctors encounter a suspicious case of rare diseases， 44.7% of them referred it to senior doctors or hospitals at an upper level.

3.As expected， the longer the doctors have practiced with medicine， the more possible that they would encounter and diagnose a rare disease. Among the 39 rare diseases reported by the doctors to be diagnosed during their everyday practices， 52.4% of the doctors have been working in medicine for 21-30 years.

4.It is clear that neither diagnosis and nor treatment of rare diseases envisions a positive picture in China. Even though 87.7% of the surveyed doctors were willing to register and share their cases of rare diseases， restricted by the availability of a patient registry system， none of them does so. From a more practical perspective， the doctors wish to get to know more about rare diseases via various media， such as WeChat (59.7%)， the Internet (60.5%)， and academic conferences (53.2%).

5.In terms of how to improve the diagnosis and treatment of rare diseases， healthcare policy making at the national level seems to be the most agreed strategy among the doctors. More than 65% of the surveyed doctors propose to provide “critical illness insurance” and “government subsidies” to patients with rare diseases to help them deal with their conditions. For the same purpose， 31.4% of the doctors think it the most important to improve the abilities of the doctors on diagnosis and treatment， whereas 21.4% of them suggest the establishment of an expert consortium.

Conclusions

The diagnosis and treatment of rare diseases are a problem， not just for China but for almost all the countries all over the world. Doctors and other medical professionals perhaps are the most important frontline for fighting against the rare diseases. However， from this study， it is worrisome that Chinese doctors’ knowledge on and experience with rare diseases are extremely scarce. This problem cannot and will not be solved if no actions are taken. As the participants of the study propose， multiple strategies should be carried out by multiple stakeholders in the area of rare disease prevention and intervention.