Embedding Public Engagement in Biomedical Research: a Pilot Experience in the Field of Rare Genetic Disorders
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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.
KeywordsBiomedical research Caregivers Cornelia De Lange syndrome Parents Public engagement Rare disease
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.
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.
Compliance with Ethical Standards
Conflict of Interest
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.
Human Participants and/or Animals
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.
Informed consent was obtained from all individual participants included in the study.
Research Data Policy
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
All procedures performed in studies involving human participants were in accordance with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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