Online education for rare genetic diseases: a systematic review

Rare genetic diseases are, collectively, not in fact rare. However, educational opportunities focused on rare genetic disease can be limited. The Internet has increased the availability of education related to rare genetic disease and is accessible to a diverse range of people who seek out such information, including healthcare professionals, researchers, students, patients, and the public.

To assess the potential educational outreach of the Internet, this systematic literature review will appraise the landscape of what education for rare genetic disease is available online, describing its form, subject, and intended audience.

This systematic review encompassed all results across 20 science, healthcare, and education databases published up to September 1, 2023. The search criteria were specific to online education for rare genetic diseases.

From 1663 total results, after applying exclusion criteria, 58 publications remained, ranging from 2002 to 2023. Although the amount of research presenting rare genetic disease education online was limited, the forms of education and its target learners were varied. Studies could have multiple target learners and healthcare professionals (68.97% of papers) and healthcare consumers (62.07% of papers) represented the most common of 5 different learners. 22 different specific conditions or categories of disease were the focus of 56.90% papers, with the remainder being general subjects like 'genetic testing' or 'rare diseases' overall. Modes of delivery were mutually exclusive per paper, with websites (29.31% of papers) and web applications/modules (24.14% of papers) being the most common of 7 different forms. The highest representation for author institutions was the USA (58.62% of papers) out of 33 countries total. The broad spread of learners, subjects, and delivery forms demonstrates the potential for online education as a vehicle for advancing the reach of rare disease education.

The greater accessibility afforded through online information creates an avenue for further availability of high-quality education on rare genetic diseases.