Abstract
In the last decade, international efforts have been focused on public engagement, to foster public involvement in the affairs and decisions of policy-makers and scientists, in order to open a mutual sharing of knowledge, values and beliefs. Our study describes a pilot experience of public engagement in a fringe field of biomedical research which involves caregivers of patients with Cornelia de Lange Syndrome (CdLS). For the 20th anniversary of Italian CdLS family’s association, a workshop focusing on progress and advancement of biomedical research on CdLS was organized for families. At the end participants were invited to complete a 14-item questionnaire, developed using a mixed method strategy with both quantitative (closed-ended) and qualitative (open-ended) data. Parents reported an overall good opinion of biomedical research (81.1%), reported trust in biomedical research (78.4%), and concluded that the basic research is as important as the clinical research (64.5%). However, only 19.4% of parents reported they were satisfied with the communication between researchers and society, and only 13.5% had a good perception of the availability of economic resources for research. Caregivers identified 4 areas of priorities: heuristic, functional, altruistic, and supportive; they reported to be highly satisfied with the workshop for both increasing knowledge about CdLS research, and for building up a network with supportive functions. Public engagement is a good way to inform caregivers about basic research progress, but also for informing researchers on the public’s views and concerns and for getting fresh and interesting perspectives.
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References
Abbott, A. (2013). Sharing Italian stem-cell trial based on flawed data. Scientists raise serious concerns about a patent that forms the basis of a controversial stem-cell therapy. Nature | News. https://doi.org/10.1038/nature.2013.13329.
Anderson, M., Elliott, E. J., & Zurynski, Y. A. (2013). Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Diseases, 8(1), 22.
Borghi, L., Galli, F., & Vegni, E. A. M. (2016). The patient-centered medicine as the theoretical framework for patient engagement. In G. Graffigna (Ed.), Promoting patient engagement and participation for effective healthcare reform (Vol. 2016, pp. 25–39). Hershey: IGI Global.
Boyatzis, R. E. (1998). Transforming qualitative information: Thematic analysis and code development. London: SAGE Publications.
Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101.
Chalmers, I., Bracken, M. B., Djulbegovic, B., Garattini, S., Grant, J., Gülmezoglu, A. M., Howells, D. W., Ioannidis, J. P. A., & Oliver, S. (2014). How to increase value and reduce waste when research priorities are set. The Lancet, 383(9912), 156–165.
Creswell, J. W., & Clark, V. L. P. (2017). Designing and conducting mixed methods research. London: SAGE Publications.
Friedman, A. J., Cosby, R., Boyko, S., Hatton-Bauer, J., & Turnbull, G. (2011). Effective teaching strategies and methods of delivery for patient education: a systematic review and practice guideline recommendations. Journal of Cancer Education, 26(1), 12–21.
Grados, M. A., Alvi, M. H., & Srivastava, S. (2017). Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Current Opinion in Psychiatry, 30(2), 92–96.
Griffith, G. M., Hastings, R. P., Oliver, C., Howlin, P., Moss, J., Petty, J., & Tunnicliffe, P. (2011). Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes. Journal of Intellectual Disability Research, 55(4), 397–410.
Inglis, A., Lohn, Z., Austin, J. C., & Hippman, C. (2014). A ‘cure’for down syndrome: what do parents want? Clinical Genetics, 86(4), 310–317.
Kline, A. D., Krantz, I. D., Sommer, A., Kliewer, M., Jackson, L. G., FitzPatrick, D. R., et al. (2007). Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. American Journal of Medical Genetics Part A, 143(12), 1287–1296.
Marcus, L. M., Kunce, L. J., & Schopler, E. (1997). Working with families. In D. R. Cohen & F. R. Volkmar (Eds.), Handbook of autism and pervasive developmental disorders (pp. 631–649). New York: Wiley.
Moja, E. A., & Vegni, E. (2000). La visita medica centrata sul paziente. Milano: Raffaello Cortina Editore.
Morris, Z. S., Wooding, S., & Grant, J. (2011). The answer is 17 years, what is the question: understanding time lags in translational research. Journal of the Royal Society of Medicine, 104(12), 510–520.
Ouborg, J. (2009). Two-way communication between genomics and society. EMBO Reports, 10(5), 420–423.
Pariser, A. R., & Gahl, W. A. (2014). Important role of translational science in rare disease innovation, discovery, and drug development. Journal of General Internal Medicine, 29(3), 804–807.
Purcell, H. N., Whisenhunt, A., Cheng, J., Dimitriou, S., Young, L. R., & Grossoehme, D. H. (2015). “A remarkable experience of god, shaping us as a family”: parents’ use of faith following child’s rare disease diagnosis. Journal of Health Care Chaplaincy, 21(1), 25–38.
Richman, D. M., Belmont, J. M., Kim, M., Slavin, C. B., & Hayner, A. K. (2009). Parenting stress in families of children with Cornelia de Lange syndrome and Down syndrome. Journal of Developmental and Physical Disabilities, 21(6), 537–553.
Røttingen, J. A., Regmi, S., Eide, M., Young, A. J., Viergever, R. F., Årdal, C., Guzman, J., Edwards, D., Matlin, S. A., & Terry, R. F. (2013). Mapping of available health research and development data: what's there, what’s missing, and what role is there for a global observatory? The Lancet, 382(9900), 1286–1307.
Rowe, G., & Frewer, L. J. (2005). A typology of public engagement mechanisms. Science, Technology & Human Values, 30(2), 251–290.
Schieppati, A., Henter, J. I., Daina, E., & Aperia, A. (2008). Why rare diseases are an important medical and social issue. The Lancet, 371(9629), 2039–2041.
Shilling, V., Morris, C., Thompson-Coon, J., Ukoumunne, O., Rogers, M., & Logan, S. (2013). Peer support for parents of children with chronic disabling conditions: a systematic review of quantitative and qualitative studies. Developmental Medicine and Child Neurology, 55(7), 602–609.
Stokes, D. E. (2011). Pasteur's quadrant: Basic science and technological innovation. Washington: Brookings Institution Press.
Tong, A., Lowe, A., Sainsbury, P., & Craig, J. C. (2010). Parental perspectives on caring for a child with chronic kidney disease: an in-depth interview study. Child: Care, Health and Development, 36(4), 549–557.
Trevena, L. J., BPsych, H. M. D., Barratt, A., Butow, P., & Caldwell, P. (2006). A systematic review on communicating with patients about evidence. Journal of Evaluation in Clinical Practice, 12(1), 13–23.
Vitale, S. A. (2016). Parent recommendations for family functioning with Prader–Willi syndrome: a rare genetic cause of childhood obesity. Journal of Pediatric Nursing, 31(1), 47–54.
Williams, S., Weinman, J., & Dale, J. (1998). Doctor–patient communication and patient satisfaction. Family Practice, 15(5), 480–492.
Woodgate, R. L., Ateah, C., & Secco, L. (2008). Living in a world of our own: the experience of parents who have a child with autism. Qualitative Health Research, 18(8), 1075–1083.
Wynne, B. (2006). Public engagement as a means of restoring public trust in science–hitting the notes, but missing the music? Public Health Genomics, 9(3), 211–220.
Zirwas, M. J., & Holder, J. L. (2009). Patient education strategies in dermatology: Part 2: methods. The Journal of Clinical and Aesthetic Dermatology, 2(12), 28–34.
Acknowledgements
The authors are deeply grateful to the Italian National Association of Volunteers Cornelia de Lange for support and inspiration, and to all participants to the study. The authors express their deep gratitude to Ms. Dawn Savery for commenting the manuscript. The authors would also like to thank the Mariani Milan Foundation for supporting the activities of clinical genetic at UOC Pediatria, ASST Lariana, Como, Italy.
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LB, AS, VM conceived and designed the study; ST, AS and VM contributed to the acquisition of data; LB and EV analyzed data;. LB and VM wrote the manuscript; ST, AS, and EV actively revised the manuscript. All authors read, edited, and approved the final manuscript.
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This work has been supported by Fondazione Cariplo, grant n. 2015–0783. The authors declare that they have no competing interests or conflict of interest.
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The study has been performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.
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Borghi, L., Vegni, E., Tajè, S. et al. Embedding Public Engagement in Biomedical Research: a Pilot Experience in the Field of Rare Genetic Disorders. J Dev Phys Disabil 32, 575–586 (2020). https://doi.org/10.1007/s10882-019-09705-0
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DOI: https://doi.org/10.1007/s10882-019-09705-0