ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- "It didn't feel like anything unusual because we had already been through so much": Disability-related research experiences of families with children enrolled in the undiagnosed diseases network.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review.Journal of advanced nursing · 2026Article
- Patient and Family Perspectives on Generative AI Tools in Rare Diseases: Exploratory Mixed Methods Online Survey.Journal of participatory medicine · 2026Article
- Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.Journal of medical Internet research · 2025Article
- Experiences of Family Members and Patients with Spinal Muscular Atrophy Under the Multi-Level Medical Security System in Shaanxi Province, China: A Mixed Study.Healthcare (Basel, Switzerland) · 2025Article
- Improving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed Diseases.JMIR human factors · 2024Article
- "Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.JMIR formative research · 2024Article
- The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis.JMIR infodemiology · 2024Article
- Social Media Content Analysis of Public and Private Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Facebook Groups.Acta medica Philippina · 2024Article
- Hope for the best, but prepare for the worst: Social media posted by participants in stem cell clinical trials.Regenerative therapy · 2023Article
- Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care.The American journal of bioethics : AJOB · 2023Article
- Social Media as a Source of Knowledge about Gene Therapy for Spinal Muscular Atrophy.Healthcare (Basel, Switzerland) · 2022Article
- Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives.Orphanet journal of rare diseases · 2022Article
- Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder.Frontiers in genetics · 2021Review
- Filling the gaps: Information sources and needs of patients with intestinal failure and their caregivers.Intestinal Failure (New York, N.Y.)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAdvances in gene therapy and precision medicine have led to a growing number of novel treatments for rare genetic diseases. Patients/families may lack access to up-to-date, accurate, and relevant information about these treatments. Social media offers one potentially important resource for these communities. Our goal was to understand how patients/families with spinal muscular atrophy (SMA)-a rare genetic condition-used social media to share, consume, and evaluate information about the novel treatment nusinersen (Spinraza) following the drug's approval.
methodsWe conducted qualitative, semistructured interviews with 20 SMA patients or parents of patients, deriving themes and subthemes through content and thematic network analysis. Participants also completed a demographic survey.
resultsParticipants described leveraging social media to learn about nusinersen treatment, make informed treatment decisions, and advocate for/access treatment. They also described critically evaluating the trustworthiness of nusinersen-related information on social media and the privacy risks of social media use.
conclusionPatients/families used social media to navigate the new and dynamic landscape of nusinersen treatment for SMA, while attempting to mitigate misinformation and privacy risks. As new treatments become available, providers and patients/families may benefit from proactively discussing social media use, so as to maximize important benefits while minimizing risks.
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What OpenQuestion holds
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.