TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study

Rare genetic diseases pose significant diagnostic and therapeutic challenges, often leading to delayed diagnoses, misinformation, and patient isolation. Social media platforms have emerged as prominent spaces for health information dissemination and community building among patients with rare diseases.

This study aimed to evaluate the role of TikTok videos in patient education, community engagement, and information quality related to 5 rare genetic conditions: Ehlers-Danlos syndrome, Marfan syndrome, cystic fibrosis, Wilson disease, and Gaucher disease.

A cross-sectional analysis was conducted on 184 TikTok videos identified via disease-specific hashtags. Included videos were 15 seconds to 4 minutes long and directly discussed the target diseases. Advertisements, promotional content, and product marketing were excluded. Videos were categorized by creator type: physicians, medical professionals, patients, influencers, nonprofit organizations, and others. Content quality was assessed using the Global Quality Scale (GQS) and a modified DISCERN tool (mDISCERN). Engagement metrics (views, likes, and shares) were recorded. Kruskal-Wallis and chi-square tests evaluated differences across creator categories.

Of the 184 TikTok videos, 88 (47.8%) were created by patients or family members; 31 (16.8%) by influencers, 24 (13.0%) by physicians, 17 (9.2%) by nonprofit organizations, 15 (8.2%) by general users, and 9 (4.9%) by others. Collectively, the videos amassed more than 123 million views. Influencer-generated content accounted for the highest cumulative view count, totaling approximately 60.9 million views. Content produced by medical professionals and physicians demonstrated higher information quality, with mean GQS scores of 3.89 (SD 0.66) and 3.62 (SD 0.71) and mDISCERN scores of 3.11 (SD 0.58) and 3.21 (SD 0.65), respectively. In contrast, videos by influencers and patients exhibited lower quality scores (influencers: GQS mean 1.48, SD 0.60; mDISCERN mean 1.42, SD 0.55; patients: GQS mean 1.57, SD 0.58; mDISCERN mean 1.38, SD 0.52). For Ehlers-Danlos syndrome (n=40 videos, 21.7%), Wilson disease (n=40 videos, 21.7%), and cystic fibrosis (n=34 videos, 18.5%), significant differences in quality scores among creator types were observed (P<.001, P<.001, and P≤.04, respectively). For Marfan syndrome (n=40 videos, 21.7%) and Gaucher disease (n=30 videos, 16.3%), no significant differences were observed (P=.43 and P=.07, respectively). Chi-square analysis indicated no association between creator type and inclusion of peer-reviewed references (χ25=10.6; P=.07). Overall, only 7 (3.8%) videos cited scientific literature.

TikTok serves as a key platform for rare disease awareness and community engagement, although the quality and accuracy of health information vary widely. Although medical professionals produced higher-quality content, it tended to receive less visibility. Increasing the presence of health care professionals and improving visibility of evidence-based content could enhance patient education and safer health information sharing.