scholarly journals The Urgent Need to Empower Rare Disease Organizations in China: An Interview-Based Study

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
General Public ◽  
Unmet Needs ◽  
Financial Resources ◽  
Essential Information ◽  
Western Countries ◽  
Disease Awareness ◽  
Patient Organizations ◽  
The Government

Abstract Background: Each rare disease affects a small number of population, and thus is neglected. However, a total of 7,000 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, recommendations from these patient organizations should be considered by the government and legislators.

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

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Xuefeng Li ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
...  
Keyword(s):  
Rare Disease ◽  
Orphan Drug ◽  
Rare Diseases ◽  
General Public ◽  
Unmet Needs ◽  
Financial Resources ◽  
Western Countries ◽  
Disease Awareness ◽  
Patient Organizations ◽  
The Government

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.

13 Enforcement

2020 ◽  
Author(s):  
Cheng Thomas K
Keyword(s):  
Developing Countries ◽  
Law Enforcement ◽  
General Public ◽  
Institutional Design ◽  
Competition Law ◽  
Financial Resources ◽  
Competition Law Enforcement ◽  
The Government ◽  
Judicial Expertise ◽  
Policy Failures

This chapter explores the myriad difficulties and obstacles for competition law enforcement in developing countries and suggests possible solutions to some of these difficulties. Competition culture is generally lacking in developing countries. In addition, developing country authorities often face a particularly challenging enforcement environment due to past policy failures by the government, especially in the context of privatization. Another major external impediment to effective competition law enforcement is the lack of political will on the part of the government to enforce the law. The chapter also looks at the lack of authority independence, financial resources, enforcement powers, availability of data, and judicial expertise. Institutional design can have a bearing on setting of enforcement priorities. Poor institutional design may take flexibility away from the authority and make it impossible for the authority to set enforcement priorities. Apart from enforcement, however, another very important part of an authority’s work is advocacy. It is through advocacy with the general public that the authority can hope to build a competition culture. Meanwhile, it is through advocacy with the government that the authority can ensure government policies do not create intractable competition problems that are beyond the capability of the authority to solve. The chapter then considers the benefits and limitations of a regional approach to competition law enforcement. Enforcement and procedure

scholarly journals A questionnaire-based study to comprehensively assess the status quo of rare disease patients in China

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Meiling Liu ◽  
Bingzhe Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Status Quo ◽  
Poor Health ◽  
Policy Makers ◽  
Disease Awareness ◽  
Care Givers ◽  
Sleeping Problems ◽  
The Status ◽  
Education And Employment

Abstract Background: There are over 16.8 million rare disease patients in China, representing a large community that should not be neglected. To provide a basis for policy-makers, a comprehensive analysis of the status quo, unmet needs, difficulty caused by the rare disease is essential.Methods: Therefore, a questionnaire-based study of patients and care-givers was performed.Findings: A total of 1,959 patients and care-givers participated, representing 104 rare diseases, such as lysosomal diseases, hemophilia, and muscular dystrophy. The diagnosis was delayed for 1.4 ± 3.0 years, and patients experienced 1.6 ± 3.8 misdiagnoses between 3.2 ± 2.4 hospitals. The hospitals where diagnoses made were highly concentrated in 10 large hospitals (43.8%) and 5 big cities (42.1%), indicating a significant inequality of medical resources. The disease often led to difficulty in social life, education, and employment, as well as financial burden that was seldom covered by medical insurance. A battery of standardized tests, including SF-36, PHQ-9, PHQ-15, GAD-7, and PSQI, demonstrated poor health status, depression, somatization, anxiety, and sleeping issues among both patients and care-givers (p<0.05).To examine the influence of age, disease type, and relationship to patients on the scores in these tests, statistical analysis with a general linear model was conducted. It was also shown that poor health, anxiety, depression, somatization, and sleeping problems were more prevalent in patients than in care-givers, and more prevalent in more severe diseases (e.g., hemophilia, Dravet) or undiagnosed than in other diseases.Interpretations: This study identified the lack of rare disease awareness and legislative support as the major challenge to rare diseases in China, and makes key recommendations for policy-makers, including legislating orphan drug act, raising rare disease awareness, and protecting rights in education and employment.

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

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background 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. Results A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Most 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. Conclusions Our 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.

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

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background It 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 methods A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Results Most 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. Conclusions Our 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.

scholarly journals Perceptions and experiences of rare diseases among General Practitioners: an exploratory study

2021 ◽  
Author(s):  
Julie McMullan ◽  
Ashleen L. Crowe ◽  
Taylor McClenaghan ◽  
Helen McAneney ◽  
Amy Jayne McKnight
Keyword(s):  
Rare Disease ◽  
General Practitioners ◽  
Support Groups ◽  
Rare Diseases ◽  
Exploratory Study ◽  
Online Survey ◽  
Treatment Options ◽  
Healthcare Delivery ◽  
Disease Awareness ◽  
Specialist Services

AbstractBackgroundGeneral Practitioners (GPs) play an important role in healthcare delivery for people living with a rare disease and their families. Managing long-term multisystem diseases that often have no cure and sub-optimal treatment options can be extremely challenging.AimTo gain an understanding of GP’s perception and experience of rare diseases.Design and SettingThis is an exploratory study with GPs from Northern Ireland.MethodAn online survey was hosted within SmartSurvey, available for 6 weeks in early 2019, which queried: GPs career to date, interactions with rare disease patients, challenges faced, the exchange of information with patients, priorities for the future, support for such patients and finally training.ResultsSixty-six GPs engaged with the survey with 15 completing the survey. Many frustrations were mentioned by GPs when caring for such patients including finding a diagnosis, lack of specialist services and lack of awareness. Seventy-nine percent of GPs responding did not feel adequately trained to care for patients with a rare disease, while 93% were interested in undertaking training to enable them to improve their care for rare disease patients.ConclusionMore effective and convenient ‘rare disease’ focused training programs would help GPs manage patients with rare diseases. Enabling efficient, effective communication between GPs and individual medical specialists is of paramount importance to give GPs access to information on how to effectively manage patients living with a rare disease. Awareness should be raised for effective support mechanisms such as charities and support groups for rare disease patients.How this fits inMany GPs have reported feeling overwhelmed when caring for rare disease patients. Their lack of knowledge forces them to turn to the internet but finding reliable information is often difficult. This study acknowledges the difficult task GPs face when caring for this population and highlights the need for training development, improved communication, and better awareness.

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

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background: It 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 Methods: A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.Results: Most 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. Conclusions: Our 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.

SO RARE, WHO CARES? A STUDY ON STRESS AND DIFFICULTIES ENCOUNTERED BY THE PARENTS OF CHILDREN WITH A RARE DISEASE IN HONG KONG

2020 ◽  
Vol 54 (01n02) ◽  
pp. 13-30
Author(s):  
JOHNSON CHEUK KIU LEE
Keyword(s):  
Hong Kong ◽  
Disease Management ◽  
Rare Disease ◽  
Rare Diseases ◽  
Family Relationship ◽  
Severe Disabilities ◽  
Research Approach ◽  
Structured Interviews ◽  
Delay In Diagnosis ◽  
The Government

Rare diseases are a group of chronic and complex genetic disorders characterized by low prevalence rate. About half of new cases present at birth and affect children with severe disabilities. There has been scant research studying the stress and problems of the parents of children with a rare disease. In Hong Kong, the government has no established policy for rare disease management. The special needs of people with a rare disease are undermined in the current healthcare and social welfare systems. A descriptive qualitative research approach was conducted to investigate the experience of the parents. Sixteen parents were recruited, and in-depth semi-structured interviews were conducted. Thematic analysis was performed with the Supportive Care Need Framework. Major stress encountered by the families was identified, i.e., delay in diagnosis, lack of professional support, financial stress of paying for expensive drugs, and medical expenses. Also, family relationship problems, psychological impact, depression, and suicidal thoughts were pervasive among the parents. This study demonstrates that rare diseases bring enormous stress to families. Early intervention of healthcare professional and social workers is essential in empowering these families. The Hong Kong SAR government has the responsibility to take an active stance: to establish a clear definition of rare diseases and establish a policy in rare disease management.

scholarly journals Recommendations for Improving the Quality of Rare Disease Registries

2018 ◽  
Vol 15 (8) ◽  
pp. 1644 ◽  
Author(s):  
Yllka Kodra ◽  
Jérôme Weinbach ◽  
Manuel Posada-de-la-Paz ◽  
Alessio Coi ◽  
S. Lemonnier ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Improve Patient Care ◽  
Healthcare Management ◽  
Continuous Assessment ◽  
Patient Registries ◽  
Quality Registry ◽  
Clinical Bioinformatics ◽  
Patient Organizations

Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.

scholarly journals Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community

2014 ◽  
Vol 96 ◽  
Author(s):  
HARSHA KARUR RAJASIMHA ◽  
PRASANNAKUMAR BASAYYA SHIROL ◽  
PREVEEN RAMAMOORTHY ◽  
MADHURI HEGDE ◽  
SANGEETA BARDE ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Unmet Needs ◽  
Lessons Learned ◽  
Team Members ◽  
For Profit ◽  
Key Stakeholders ◽  
Health Care Context ◽  
Challenges And Opportunities ◽  
The Usa

SummaryIn order to address the unmet needs and create opportunities that benefit patients with rare disease in India, a group of volunteers created a not-for-profit organization named Organization for Rare Diseases India (ORDI; www.ordindia.org). ORDI plans to represent the collective voice and advocate the needs of patients with rare diseases and other stakeholders in India. The ORDI team members come from diverse backgrounds such as genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy and public service. ORDI builds on the lessons learned from numerous similar organizations in the USA, European Union and disease-specific rare disease foundations in India. In this review, we provide a background on the landscape of rare diseases and the organizations that are active in this area globally and in India. We discuss the unique challenges in tackling rare diseases in India, and highlight the unmet needs of the key stakeholders of rare diseases. Finally, we define the vision, mission, goals and objectives of ORDI, identify the key developments in the health care context in India and welcome community feedback and comments on our approach.

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