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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.

SUBMITTER: Li X

PROVIDER: S-EPMC7552513 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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

Li Xuefeng X Lu Zijuan Z Zhang Jianyong J Zhang Xiangyu X Zhang Shu S Zhou Jincheng J Li Bingzhe B Ou Li L

Orphanet journal of rare diseases 20201012 1

<h4>Background</h4>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 ...[more]

PMID: 33046132

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Project description:BackgroundRare diseases (RDs) affect a small percentage of the population but can be severely debilitating and life-threatening. Historically, patient groups (PGs) have been the prime movers in raising awareness about these diseases and advocating for national supportive policies. They have also driven relevant research programs. In India too, PGs have made significant contributions to the national RD ecosystem.ObjectiveTo assess the contribution of various Indian RD PGs, we carried out an interview-based study of 19organizations. This study aims to highlight the origins and achievements of these groups and the challenges that they have faced. The study also helps to capture the changes in the RD ecosystem that have taken place in recent years.ResultOf the 19 PGs, two are umbrella organizations, two are other organizations of national scope and 15 are disease specific groups. 14 interviewees were affected by an RD either directly or through a family member. Lack of awareness about RDs in the medical community was the biggest challenge, leading to a delay in diagnosis and subsequent management. Only two out of the 15 conditions have a definitive treatment. However, many of the diseases can be managed with replacement therapies administered for the patient's entire life, or other supportive therapies. Most diagnostics and treatment regimens that are available globally are now available in India but are expensive and usually available only in a few major cities. These problems are compounded by a lack of medical insurance schemes and government policies to support these patients. The biggest achievement of the PGs was the passing of National Policy for Treatment of Rare Diseases in 2017, unfortunately since put in abeyance. If reinstated, and properly implemented, this policy could significantly improve RD management in the country.ConclusionPGs have had a significant role in bringing diagnostics and treatments to India. They have also raised awareness about RDs and related issues such as newborn screening, prenatal diagnostics and genetic counselling. This study highlighted the recommendations of various PGs. The government should address these recommendations and institutionalize the participation of the PGs in formal decision making.

Project description:BackgroundIt is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians.Materials and methodsA total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.ResultsMost physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p < 0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training.ConclusionsOur study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online 'information hub' are made for considerations of policy-makers.

Project description:BACKGROUND:Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, industry hesitated to undertake relevant research and development (R&D). In response, the governments of many countries came up with orphan drug policies and RD policies which were hugely successful in incentivizing companies to do so. In India, in the absence of any such policy until recently, there are very few organizations involved in RD R&D. OBJECTIVES:We wished to understand (i) the OMP Organizations' (OMPOs') areas of work and the nature of their work, (ii) their goals, (iii) the challenges they faced and how they were overcoming them, (iv) their achievements, and (v) their recommendations to the government to help their R&D, their success as commercial entities (where applicable), and patients' access to their products or services. RESULTS:Ten of the 14 OMPOs are companies, whereas four are not-for-profit organizations. Almost all of the OMPOs are heavily into R&D. Six have already made their products or services available to patients. Four plan to out-license their products after the pre-clinical phase or phase 1 trials, eight plan to cater to patients directly and two of the OMPOs have been established only recently and thus do not yet have any product or service to offer patients. Nine OMPOs import about 90% of the components in the production process, which comprises either capital or recurrent expenditure. For most, locally manufactured alternatives are not available or are of inadequate quality. Most of the OMPOs have had productive collaborations with local or foreign academics or hospitals for R&D, animal efficacy studies, clinical trials or providing services to patients. The main challenges for the OMPOs are the lack of adequate funding, supportive government policies, and a conducive ecosystem. CONCLUSIONS:These OMPOs are pioneers in their respective fields in India, and despite the challenges, have achieved new levels of innovation. With suitable government policies, they could scale up and provide relevant products and services to the large number of RD patients in the country whose medical needs are largely unmet.

Dataset Information

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

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

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