JMIR Publications

ABSTRACT

Background:

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

Objective:

This study aimed to evaluate the role of TikTok videos in patient education, community engagement, and information quality related to five rare genetic conditions: Ehlers-Danlos Syndrome (EDS), Marfan Syndrome, Cystic Fibrosis, Wilson’s Disease, and Gaucher Disease.

Methods:

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

Results:

Of the 184 TikTok videos included in the analysis, 47.8% were created by patients/family, followed by influencers (16.8%), physicians (13.0%), nonprofit organizations (9.2%), general users (8.2%), and other (4.9%). Collectively, the videos amassed over 123 million views. Despite representing a smaller proportion of total videos, influencer-generated content accounted for the highest cumulative view count, totaling approximately 60.9 million views. Content produced by medical professionals and physicians demonstrated significantly higher information quality, with mean GQS scores of 3.89 and 3.62, and mDISCERN scores of 3.11 and 3.21, respectively. In contrast, videos by influencers and patients exhibited lower quality scores (Influencers: GQS 1.48, mDISCERN 1.42; Patients: GQS 1.57, mDISCERN 1.38). Statistical analysis revealed significant differences in quality scores among creator types for EDS (n=40; GQS: H=24.28, p<.001; mDISCERN: H=24.09, p<.001), Wilson’s Disease (n=40; GQS: H=30.50, p<.001; mDISCERN: H=29.89, p<.001), and Cystic Fibrosis (n=34; GQS: H=12.36, p=.03; mDISCERN: H=11.96, p=.04). No statistically significant differences in quality scores were observed for Marfan Syndrome or Gaucher Disease. Chi-square analysis indicated no significant association between creator type and the inclusion of peer-reviewed references (χ² = 10.63, p = .059). Overall, only 1.6% of videos explicitly cited scientific literature.

Conclusions:

TikTok is an important platform for community engagement in rare diseases but is also a source of misinformation. Although medical professionals produce higher-quality content, it tends to receive less visibility. Increasing the presence of healthcare providers and improving the visibility of evidence-based content could enhance patient education and support safer health information sharing.