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



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.


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.


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.


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.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1.

    Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371:2120–2133.

    Article  Google Scholar 

  2. 2.

    Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. Eur J Hum Genet. 2012;20:27–32.

    Article  Google Scholar 

  3. 3.

    Hoy SM. Nusinersen: first global approval. Drugs. 2017;77:473–479.

    CAS  Article  Google Scholar 

  4. 4.

    Corey DR. Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy. Nat Neurosci. 2017;20:497–499.

    CAS  Article  Google Scholar 

  5. 5.

    Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723–1732.

    CAS  Article  Google Scholar 

  6. 6.

    Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies. Neurology. 2019;92:e2492–e2506.

    CAS  Article  Google Scholar 

  7. 7.

    Haché M, Swoboda KJ, Sethna N, et al. Intrathecal injections in children with spinal muscular atrophy: nusinersen clinical trial experience. J Child Neurol. 2016;31:899–906.

    Article  Google Scholar 

  8. 8.

    Thomas K. Costly drug for fatal muscular disease wins F.D.A. approval. The New York Times. 30 December 2016. Accessed 16 December 2019.

  9. 9.

    Pacione M, Siskind CE, Day JW, Tabor HK. Perspectives on spinraza (nusinersen) treatment study: views of individuals and parents of children diagnosed with spinal muscular atrophy. J Neuromuscul Dis. 2019;6:119–131.

    Article  Google Scholar 

  10. 10.

    Burgart AM, Magnus D, Tabor HK, et al. Ethical challenges confronted when providing nusinersen treatment for spinal muscular atrophy. JAMA Pediatr. 2018;172:188–192.

    Article  Google Scholar 

  11. 11.

    Smailhodzic E, Hooijsma W, Boonstra A, Langley DJ. Social media use in healthcare: a systematic review of effects on patients and on their relationship with healthcare professionals. BMC Health Serv Res. 2016;16:442.

    Article  Google Scholar 

  12. 12.

    Moorhead SA, Hazlett DE, Harrison L, Carroll JK, Irwin A, Hoving C. A new dimension of health care: systematic review of the uses, benefits, and limitations of social media for health communication. J Med Internet Res. 2013;15:e85.

    Article  Google Scholar 

  13. 13.

    Pew Research Center. Peer-to-peer health care. February 2011. Accessed 4 March 2020.

  14. 14.

    Khouri JS, McCheyne MJ, Morrison CS. #Cleft: the use of social media amongst parents of infants with clefts. Cleft Palate Craniofac J. 2018;55:974–976.

    Article  Google Scholar 

  15. 15.

    Jacobs R, Boyd L, Brennan K, Sinha CK, Giuliani S. The importance of social media for patients and families affected by congenital anomalies: a Facebook cross-sectional analysis and user survey. J Pediatr Surg. 2016;51:1766–1771.

    Article  Google Scholar 

  16. 16.

    Gundersen T. “One wants to know what a chromosome is”: the internet as a coping resource when adjusting to life parenting a child with a rare genetic disorder. Sociol Health Illn. 2011;33:81–95.

    Article  Google Scholar 

  17. 17.

    Barton KS, Wingerson A, Barzilay JR, Tabor HK. “Before Facebook and before social media…we did not know anybody else that had this”: parent perspectives on internet and social media use during the pediatric clinical genetic testing process. J Community Genet. 2019;10:375–383.

    Article  Google Scholar 

  18. 18.

    Pelentsov LJ, Laws TA, Esterman AJ. The supportive care needs of parents caring for a child with a rare disease: a scoping review. Disabil Health J. 2015;8:475–491.

    Article  Google Scholar 

  19. 19.

    High KA, Roncarolo MG. Gene therapy. N Engl J Med. 2019;381:455–464.

    CAS  Article  Google Scholar 

  20. 20.

    Anguela XM, High KA. Entering the modern era of gene therapy. Annu Rev Med. 2019;70:273–288.

    CAS  Article  Google Scholar 

  21. 21.

    Denzin NK, Lincoln YS, editors. The SAGE handbook of qualitative research. Thousand Oaks, CA: SAGE; 2011.

    Google Scholar 

  22. 22.

    Silverman D. Doing qualitative research: a practical handbook. 4th ed. Thousand Oaks, CA: SAGE; 2013.

  23. 23.

    Creswell JW, Clark VLP. Designing and conducting mixed methods research. Thousand Oaks, CA: SAGE; 2017.

    Google Scholar 

  24. 24.

    Seidman I. Interviewing as qualitative research: a guide for researchers in education and the social sciences. New York: Teachers College Press; 2006.

    Google Scholar 

  25. 25.

    Hsieh H-F, Shannon SE. Three approaches to qualitative content analysis. Qual Health Res. 2005;15:1277–1288.

    Article  Google Scholar 

  26. 26.

    Attride-Stirling J. Thematic networks: an analytic tool for qualitative research. Qual Res. 2001;1:385–405.

    Article  Google Scholar 

  27. 27.

    Epstein SG. Patient groups and health movements. In: Hackett EJ, Amsterdamska O, Lynch M, Wajcman J, editors. The handbook of science and technology studies. Cambridge: MIT Press; 2008. p. 499–539.

  28. 28.

    National Organization for Rare Disorders. History of leadership. Accessed 5 March 2020.

  29. 29.

    Vandeborne L, van Overbeeke E, Dooms M, De Beleyr B, Huys I. Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet J Rare Dis. 2019;14:99.

    Article  Google Scholar 

  30. 30.

    Vosoughi S, Roy D, Aral S. The spread of true and false news online. Science. 2018;359:1146–1151.

    CAS  Article  Google Scholar 

  31. 31.

    Chou W-YS, Oh A, Klein WMP. Addressing health-related misinformation on social media. JAMA. 2018;320:2417–2418.

    Article  Google Scholar 

  32. 32.

    Rupert DJ, Moultrie RR, Read JG, et al. Perceived healthcare provider reactions to patient and caregiver use of online health communities. Patient Educ Couns. 2014;96:320–326.

    Article  Google Scholar 

  33. 33.

    Fazzini K, Farr C. Facebook recently closed a loophole that allowed third parties to discover the names of people in private, “closed” Facebook groups. CNBC. 12 July 2018. Accessed 5 March 2020.

  34. 34.

    Trotter F. SicGRL vulnerability is still not fixed. Light Collective. 12 September 2019. Accessed 23 May 2020.

  35. 35.

    Shead S. People with epilepsy targeted in Twitter attack. BBC News. 18 December 2019.

  36. 36.

    Nicholl H, Tracey C, Begley T, King C, Lynch AM. Internet use by parents of children with rare conditions: findings from a study on parents’ web information needs. J Med Internet Res. 2017;19:e51.

    Article  Google Scholar 

  37. 37.

    Novartis. AveXis receives FDA approval for Zolgensma®, the first and only gene therapy for pediatric patients with spinal muscular atrophy (SMA). 24 May 2019. Accessed 5 March 2020.

  38. 38.

    Roche. FDA grants priority review to Roche’s risdiplam for spinal muscular atrophy. 25 November 2019. Accessed 5 March 2020.

  39. 39.

    Joseph A, Silverman E. Lottery like no other offers a cutting-edge medicine — with lives on the line. STAT News. 7 February 2020. Accessed 23 May 2020.

  40. 40.

    Jamison J, Sutton S, Mant J, Simoni AD. Online stroke forum as source of data for qualitative research: insights from a comparison with patients’ interviews. BMJ Open. 2018;8:e020133.

    Article  Google Scholar 

  41. 41.

    Schumacher KR, Stringer KA, Donohue JE, et al. Social media methods for studying rare diseases. Pediatrics. 2014;133:e1345–e1353.

    Article  Google Scholar 

  42. 42.

    Facebook. Help center. Accessed 25 March 2020.

Download references


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.

Author information



Corresponding author

Correspondence to Holly K. Tabor PhD.

Ethics declarations


The authors declare no conflicts of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.


The views expressed by A.A.I. are his own and do not necessarily reflect those of the National Institutes of Health, the Department of Health and Human Services, or the United States Government.

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

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).

Download citation


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