Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study

Abstract

Purpose

Advances 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.

Methods

We 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.

Results

Participants 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.

Conclusion

Patients/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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Acknowledgements

The authors thank the participants. They also thank Alyssa Burgart, Skye Miner, Meghan Halley, Carly Siskind, and Saskia Hendriks for helpful feedback. This study was supported by the Stanford Center for Biomedical Ethics, the Stanford Medical Scholars Research Program, and the Intramural Research Program of the National Institutes of Health (NIH), Clinical Center Department of Bioethics.

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Correspondence to Holly K. Tabor PhD.

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Iyer, A.A., Barzilay, J.R. & Tabor, H.K. Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study. Genet Med (2020). https://doi.org/10.1038/s41436-020-0890-6

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Keywords

  • social media
  • gene therapy
  • rare genetic disease
  • spinal muscular atrophy
  • nusinersen (Spinraza)