Orphanet Journal of Rare Diseases | A Systematic Review of Online Educational Resources for Rare Genetic Diseases

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This study systematically evaluates the development of online education for rare genetic diseases between 2002 and 2023, revealing the diversity in educational formats, target audiences, and topics, and highlighting the significant potential of the internet in improving accessibility to rare disease knowledge.

 

Literature Overview

The article 'Online education for rare genetic diseases: a systematic review', published in the Orphanet Journal of Rare Diseases, reviews and summarizes the current state of online education for rare genetic diseases. Using a systematic literature review approach, the study analyzed 20 scientific, medical, and educational databases up to September 2023, identifying 58 eligible studies that comprehensively describe the target audiences, subject matter, and delivery formats of these educational resources. The findings indicate that, although the number of publications is limited, online education demonstrates high diversity in audience reach, disease coverage, and teaching methods, with websites and modular applications serving as the primary distribution channels, primarily targeting healthcare professionals and patient communities. The study emphasizes the internet's critical role in bridging gaps in rare disease education and calls for the development of more high-quality, sustainable online educational resources. An updated search at the end of the article confirms rapid recent growth in this field and increasing international engagement.

Background Knowledge

Although individual rare genetic diseases have low prevalence, there are approximately 7,000 such conditions globally, collectively affecting around 300 million people—about 1 in 17 of the population—making them a significant public health concern. Due to scattered cases and limited research resources, rare diseases often face delayed diagnosis and limited treatment options. Healthcare professionals often lack awareness, and patients and families struggle to access authoritative information, resulting in a major educational gap. Traditional in-person education is constrained by geography and resources, limiting broad dissemination. With the widespread adoption of the internet, online education has become a key solution to overcome this bottleneck. It enables broad knowledge dissemination, on-demand learning, and multilingual support, making it especially suitable for fields like rare diseases that require interdisciplinary collaboration. Current online education formats are diverse, including websites, interactive modules, webinars, and e-courses, but lack systematic evaluation. This study fills that gap by systematically mapping the distribution of existing educational resources, providing empirical evidence for developing more effective and accessible tools in the future. Additionally, the study identifies challenges such as outdated content, obsolete technologies, and insufficient evaluation, suggesting that future efforts should focus on the sustainability and effectiveness of educational content to truly improve global understanding and management of rare genetic diseases.

 

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Methods and Experiment

The study employed a systematic literature review methodology, searching 20 scientific, medical, and educational databases including PubMed, Web of Science, and EBSCO, with no start date restriction and ending on September 1, 2023. The search strategy combined five key categories of terms: online-related (e.g., online, web), education or learning resources (e.g., education, module), genetic or genomic (e.g., genetic, gene), disease-related (e.g., disease, disorder), and rare diseases (e.g., rare, orphan). After deduplication, results were screened by title and abstract using an ABC classification: C-level for irrelevant, B-level for missing any key element, and A-level for fully meeting inclusion criteria. A total of 58 A-level studies were included in the analysis, and a supplementary search was conducted on PubMed for publications after September 2023 to update the dataset.

Key Findings and Insights

• Among the 58 included studies, healthcare professionals (68.97%) and medical consumers (62.07%) were the most common target audiences, followed by researchers (50.00%), while K-12 students and university students represented a smaller proportion
• 43.10% of studies focused on general topics such as 'genetic testing' or 'rare diseases,' while the remaining 56.90% addressed 22 specific rare diseases or disease categories, including Duchenne muscular dystrophy, cystic fibrosis, and Fabry disease
• Educational formats were primarily websites (29.31%) and web applications/modules (24.14%), with other formats including webinars (20.69%), online courses (10.34%), videos (6.90%), electronic documents (5.17%), and virtual labs (3.45%)
• Author affiliations were predominantly from the United States (58.62% of studies involved U.S. institutions), but the research showed international diversity, covering 33 countries. The supplementary search added contributions from Brazil, South Africa, Tanzania, and Turkey
• The study found that despite the limited number of online educational resources, their diversity in audience, topic, and format indicates the internet has significant potential to expand the reach and accessibility of rare disease education
• Some studies included educational outcome assessments, such as pre- and post-intervention questionnaires showing significant improvements in knowledge and confidence, but most did not report learning outcomes, highlighting the need for stronger validation of educational interventions in the future

Implications and Future Directions

This study provides the first systematic mapping of online education for rare genetic diseases, revealing the current distribution and limitations of available resources. It confirms that the internet has become a vital platform for disseminating rare disease knowledge, effectively serving diverse groups such as healthcare providers, patients, and the public. Its flexibility and scalability offer a viable path to address the fragmented nature of rare disease education.

The study also identifies several future directions: first, more in-depth educational resources should be developed for specific rare diseases, particularly using interactive modules and virtual case studies to enhance learning experiences; second, attention must be paid to the technical sustainability of educational resources to prevent content obsolescence due to outdated technologies (e.g., Flash); third, multilingual support and low-bandwidth compatibility should be strengthened to improve global accessibility; finally, future research should incorporate more learning outcome assessments to optimize educational design and demonstrate real-world impact. As genomics and digital health advance, online education will play an increasingly critical role in early diagnosis, precision treatment, and patient empowerment in rare diseases.

 

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Conclusion

This systematic review comprehensively assesses the state of research on online education for rare genetic diseases from 2002 to 2023, revealing that despite a limited number of publications, the field has shown significant diversity and growth potential. The findings indicate that healthcare professionals and patients are the primary audiences, with educational content covering both general topics and 22 specific diseases, primarily delivered through websites and web modules. The United States dominates in research output, but international collaboration is increasing, involving 33 countries worldwide. The study emphasizes that online education, by improving knowledge accessibility, has become a key tool in bridging the gap in rare disease research and clinical care. However, most studies lack outcome evaluations, and some technologies are outdated, suggesting the need for more sustainable and evaluable educational resources. In recent years, the field has grown rapidly, with new studies expanding both thematic scope and geographic diversity, indicating rising global attention to rare disease education. Future efforts should focus on building high-quality, multilingual, and highly interactive online platforms to support healthcare workers and patient communities globally, advancing awareness and clinical optimization in rare diseases. The widespread availability of the internet and technological advancements provide a solid foundation for achieving this goal.

 

Pinar Ozmizrak, Luigi Boccuto, Tracy Brock Lowe, Stephanie Trammel, and Jane DeLuca. Online education for rare genetic diseases: a systematic review. Orphanet Journal of Rare Diseases.