The urgent need to empower rare disease organizations in China: an interview-based study

Abstract

Background Each rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease represents a huge challenge for the healthcare system. In Western countries, patient organizations have been playing an integral role in raising awareness, advocating legislation, and supporting drug development. This study aims to assess the unmet needs of rare disease patient organizations in China, and identify their unmet needs, providing essential information for the government and legislators. Results A total of 28 individuals representing 28 patient organizations in China were interviewed. Most organizations do not have official registration, employees, written standard operation protocol, or reliable financial resources. Misdiagnosis or delayed diagnosis is common, and treatment is often lacking. Due to the lack of financial resources, no organizations have been able to sponsor academic research, unlike their counterparts in Western countries. As to challenges, 71.4% of interviewees listed lack of rare disease awareness among the general public, while 67.9% selected lack of financial resources. Further, only 7.3% of these organizations received support from the government, and 28.6% received support from the general public. As to recommendations to the government, 82.1% of interviewees selected special insurance programs for rare diseases because rare diseases have been generally excluded from the national medical insurance programs. In addition, 78.6% of interviewees recommended to stimulate rare disease research, 75% recommended to import orphan drugs, and 71.4% recommended legislation of an orphan drug act, highlighting the urgent need of therapies. Conclusions Due to lack of support and rare disease awareness, patient organizations in China are still in the early phase. To empower these patient organizations, the interviewees’ recommendations, including legislating orphan drug act and releasing official definition of rare diseases, should be considered by the government and legislators.

A Questionnaire-based Study to Comprehensively Assess the Status Quo of Rare Disease Patients and Care-givers in China

“…One major reason for the di culty in diagnosis is the limited rare disease awareness among patients, families, and physicians. Similar to a previous study in Europe 31 , as believed by patients and care-givers in this study, physicians did not have su cient awareness and knowledge about rare diseases. A recent study among physicians in China also showed a lack of rare disease awareness 32 .…”

A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China

“…Interestingly, the duration between onset and diagnosis in China was 1.4 years, and there were only 1.8 misdiagnoses. This may be because of the increased application of newborn screening over the years in China [31]. It may be also because social media has increased avenues for relevant information and communication between patients.…”

Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

“…Although newborn screening has undergone a rapid development, it is still a great challenge to increase coverage and expand disease panel across the whole country [ 9 ]. Partially due to efforts of many patient organizations, rare disease awareness in China increased significantly [ 10 ]. Further, China released its first official list of 121 rare diseases in 2018, representing an initial and essential step.…”