Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Clinical Biobank, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
Orphanet J Rare Dis. 2023 Aug 10;18(1):240. doi: 10.1186/s13023-023-02847-7.
Genetic testing can facilitate the diagnosis and subsequent therapeutic management of rare diseases. However, there is a lack of data on the use of genetic testing for rare diseases. This study aims to describe the utilization rate and troubles encountered by clinicians in treating rare diseases with genetic testing.
A cross-sectional electronic questionnaire survey was conducted between June and October 2022 among the medical staff from the hospitals covering all provinces, municipalities, and autonomous regions of China. The survey on genetic testing focused on whether genetic testing was used in the diagnosis and treatment of rare diseases, the specific methods of genetic testing, and the problems encountered when using genetic testing.
A total of 20,132 physicians who had treated rare diseases were included, of whom 35.5% were from the central region, 36.7% were from the eastern region, and 27.8% were from the western region. The total utilization rate of genetic testing for rare diseases was 76.0% (95%CI: 75.4-76.6). The use of genetic testing was highest in the Eastern region (79.2% [95% CI: 78.3-80.1]), followed by the Central (75.9% [95% CI: 74.9-76.9]) and Western regions (71.9% [95% CI: 70.7-73.1]). More than 90% (94.1% [95%CI: 93.4-94.8]) of pediatricians had used genetic testing to treat rare diseases, with surgeons having the lowest use of genetic testing (58.3% [95% CI: 56.6-60.0]). Physicians' departments and education levels affect the use of genetic testing. Most physicians have used a variety of genetic tests in the management of rare diseases, the most popular methods were "Whole-exome sequencing (Proband)" and "Whole-exome sequencing (families of three or more)". Doctors have encountered many problems with the use of genetic testing in the diagnosis and treatment of rare diseases, among which the high price was the main concern of medical workers.
Three-quarters of physicians used genetic testing in rare disease practice, and there were regional differences in the use of genetic testing. Recognition of the utilization of genetic testing can help identify patterns of resource utilization in different regions and provide a more comprehensive picture of the epidemiology of rare diseases in jurisdictions.
基因检测有助于罕见病的诊断和后续治疗管理。然而，目前关于罕见病基因检测应用的数据有限。本研究旨在描述临床医生在使用基因检测治疗罕见病时的使用率和遇到的困难。
2022 年 6 月至 10 月，对全国各省市自治区的医务人员进行了横断面电子问卷调查。该基因检测调查主要针对基因检测是否用于罕见病的诊断和治疗、基因检测的具体方法以及使用基因检测时遇到的问题。
共纳入 20132 名诊治过罕见病的医生，其中 35.5%来自中部地区，36.7%来自东部地区，27.8%来自西部地区。罕见病基因检测总使用率为 76.0%（95%CI：75.4-76.6）。东部地区基因检测使用率最高（79.2%[95%CI：78.3-80.1]），其次是中部地区（75.9%[95%CI：74.9-76.9]）和西部地区（71.9%[95%CI：70.7-73.1]）。超过 90%（94.1%[95%CI：93.4-94.8]）的儿科医生曾使用基因检测治疗罕见病，而外科医生的基因检测使用率最低（58.3%[95%CI：56.6-60.0]）。医生所在科室和教育水平影响基因检测的使用。大多数医生在管理罕见病时使用了多种基因检测方法，最受欢迎的方法是“全外显子组测序（先证者）”和“全外显子组测序（三个或更多家族成员）”。医生在罕见病诊断和治疗中使用基因检测时遇到了许多问题，其中价格高是医务人员最关心的问题。
四分之三的医生在罕见病实践中使用基因检测，基因检测的使用存在地区差异。对基因检测利用率的认识有助于确定不同地区资源利用模式，并提供更全面的管辖权内罕见病流行病学情况。
