SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2021
Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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Who cites it
25 citing papers in PubMed.
- Harnessing Patient-Generated Data for Rare Disease Knowledge Enrichment: A Pilot Study.Studies in health technology and informatics · 2026Article
- The Digital Diagnostic Odyssey: Artificial Intelligence and Social Media Crowdsourcing Amid Pediatric Neurology Access Gaps.Annals of the Child Neurology Society · 2026Article
- TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.JMIR formative research · 2026Article
- Reddit and rare diseases: what myositis communities tell us about support and struggle.Oxford open digital health · 2026Article
- Integrating rare diseases into Africa's digital health strategies.PLOS digital health · 2025Article
- Engaging migrants and immigrants in genetics research.Nature genetics · 2025Review
- Exploring the role of digital tools in rare disease management: An interview-based study.Journal of genetic counseling · 2025Article
- Best practices for the collection and analysis of patient experience data from social media for patient-focused drug development.Frontiers in medicine · 2025Review
- Rare disease narratives on social media: A content analysis.Genetics in medicine open · 2025Article
- "Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.JMIR formative research · 2024Article
- Role of social media in the presentation of disorders of gut-brain interaction: Review and recommendations.Journal of gastroenterology and hepatology · 2024Review
- Article
- The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis.JMIR infodemiology · 2024Article
- Recommending Clinical Trials for Online Patient Cases using Artificial Intelligence.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2024Article
- Myasthenia Gravis: utilising cross-platform quantitative content analysis to uncover and validate unmet needs.Frontiers in neurology · 2024Article
- Health-related quality of life in patients with diverse rare diseases: An online survey.Genetics in medicine open · 2024Article
- Parents' Views on Autopsy, Organ Donation, and Research Donation After Neonatal Death.JAMA network open · 2023Article
- Patient preferences and comfort for cancer survivorship models of care: results of an online survey.Journal of cancer survivorship : research and practice · 2023Article
- IMPOWER: a national patient-generated registry for intestinal malrotation exploring diagnosis, treatment, and surgical outcomes.Orphanet journal of rare diseases · 2023Article
- Disruptions in the Cystic Fibrosis Community's Experiences and Concerns During the COVID-19 Pandemic: Topic Modeling and Time Series Analysis of Reddit Comments.Journal of medical Internet research · 2023Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
purposeSocial media may be particularly valuable in research in rare genetic diseases because of the low numbers of patients and the rare disease community's robust online presence. The goal of this systematic review was to understand how social media is currently used in rare disease research and the characteristics of the participants in these studies.
methodsWe conducted a systematic review of six databases to identify studies published in English between January 2004 and November 2020, of which 120 met inclusion criteria.
resultsMost studies were observational (n = 114, 95.0%) and cross-sectional (n = 107, 89.2%), and more than half (n = 69, 57.5%) utilized only surveys. Only 101 rare diseases were included across all studies. Participant demographics, when reported, were predominantly female (70.1% ± 22.5%) and white (85.0% ± 11.0%) adult patients and caregivers.
conclusionDespite its potential benefits in rare disease research, the use of social media is still methodologically limited and the participants reached may not be representative of the rare disease population by gender, race, age, or rare disease type. As scholars explore using social media for rare disease research, careful attention should be paid to representativeness when studying this diverse patient community.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.