A call for global action for rare diseases in Africa

Baynam, Gareth; Groft, Stephen C.; Westhuizen, Francois H. van der; Gassman, Safiyya D.; Plessis, Kelly du; Coles, Emily P.; Selebatso, Eda; Selebatso, Moses; Gaobinelwe, Boikobo; Selebatso, Tebogo; Joel, Dipesalema; Llera, Virginia A.; Vorster, Barend C.; Wuebbels, Barbara; Djoudalbaye, Benjamin; Austin, Christopher P.; Kumuthini, Judit; Forman, John; Kaufmann, Petra; Chipeta, James; Gavhed, Désirée; Larsson, Annika Taghizadeh; Stojiljković, Maja; Nordgren, Ann; Roldan, Emilio J.A.; Taruscio, Domenica; Wong‐Rieger, Durhane; Nowak, Kristen J.; Bilkey, Gemma A.; Easteal, Simon; Bowdin, Sarah; Reichardt, Juergen K.V.; Beltrán, Sergi; Kosaki, Kenjiro; Karnebeek, Clara van; Gong, Mengchun; Zhang, Shuyang; Mehrian‐Shai, Ruty; Adams, David R.; Puri, Ratna Dua; Feng, Zhang; Pachter, Nicholas; Muenke, Maximilian; Nellåker, Christoffer; Gahl, William A.; Cederroth, Helene; Broley, Stephanie; Schoonen, Maryke; Boycott, Kym M.; Posada, Manuel

doi:10.1038/s41588-019-0552-2

Cited by 39 publications

(43 citation statements)

References 21 publications

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“…According to industry insiders, my country currently lacks medical talents with multidisciplinary development. Training genetic counselors can solve the problems caused by the shortage of talents in this area [18].…”

Section: Discussionmentioning

confidence: 99%

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

Zhang

et al. 2020

Preprint

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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.

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Section: Discussionmentioning

confidence: 99%

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

Zhang

et al. 2020

Preprint

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“…Moreover, there are other challenges for Indigenous families, in terms of technology, internet access, bandwidth, reliability, and cultural appropriateness. In the African context, the needs of people living with rare diseases must also be balanced with basic needs, such as nutrition and communicable-disease prevention (16).…”

Section: Access To Clinical Genetic Servicesmentioning

confidence: 99%

“…This under-representation of ethnically diverse populations in human genomic studies has important implications for the interpretability of genomic variants and diagnostic assessments (46). As genome sequencing is increasingly used in the diagnosis of rare and undiagnosed conditions (47), reference genomes from more ethnically diverse populations are needed for reliable interpretation of results and ultimately the effective and responsible implementation of precision medicine in minority populations (16,46).…”

Section: Underrepresentation In Genomic Research and Reference Databasesmentioning

confidence: 99%

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

D’Angelo¹,

Hermes

McMaster

et al. 2020

Front. Pediatr.

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Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them. Herein, we provide an overview of the state of play of current barriers and considerations identified by the taskforce, to further stimulate awareness of these issues and the passage toward solutions. We focus on analyzing barriers to accessing genetic services, participating in genomic research, and other aspects such as concerns about data sharing, the handling of biospecimens, and the importance of capacity building.

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“…Technical support and coordinated global efforts are needed to address the research inadequacy of SSc and other rare diseases in Africa, which is also called for by the 17 th International Conference on Rare Diseases and Orphan Drugs. [26] There are several limitations in our study warranting notice. Firstly, because our study was carried out on SSc publications in countries with available data, these results may not apply to other rare diseases and countries.…”

Section: Discussionmentioning

confidence: 88%

Research output on systemic sclerosis and socio-economic factors: An analysis of country-level panel data

Guo

Zhou

Liang

et al. 2021

Preprint

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Background Systemic sclerosis (SSc) is a rare detrimental disease warranting mobilization of global research efforts. We aimed to evaluate impacts of country factors on research output over SSc to identify solutions promoting research. Methods Publication production on SSc during 1969–2018 and data for structural and policy factors were collected from public sources. Effects of country-level factors were investigated through panel regression in WHO member countries. Difference-in-differences analysis assessed the impacts of rare disease legislation. Effect heterogeneity across income levels was evaluated using group regression. Results SSc publications showed increasing annual growth rate (−0.3% during 1969–1983 vs. 6.9% during 2000–2018). Totally, ten countries published 12 261 (77.5%) SSc publications but another 87 countries produced none. High-income countries with higher GDP, larger population, and higher health expenditure tended to publish more (p<0.001). Whereas in middle-income countries (MICs) SSc scientific output was significantly associated with expenditure on research and development( p <0.001). Rare disease legislation increased annual publication production by 62.8% (95% CI 0.390–0.867; p <0.001) averagely. Notably, the effect of legislation was swift and lasting in MICs during the first five years. No significant impact was found with GDP per capita, female percentage, and political indicators. Conclusions SSc research output increased over time with substantial country disparities. Effective health policies facilitating research should be expanded especially among MICs to accelerate global advancement.

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A call for global action for rare diseases in Africa

Cited by 39 publications

References 21 publications

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

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

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

Research output on systemic sclerosis and socio-economic factors: An analysis of country-level panel data

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