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© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Background: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders’ (affected individuals/caregivers) motivation to participate. Members of the Genes to Mental Health Network (G2MH) surveyed stakeholders affected by copy number variants (CNVs) regarding perceived incentives for study participation, opinions concerning research priorities, and the necessity for future funding. Respondents were also asked about feelings of preparedness, research burden, and satisfaction with research study participation. Methods: Modified validated surveys were used to assess stakeholders´ views across three domains: (1) Research Study Enrollment, Retainment, Withdrawal, and Future Participation; (2) Overall Research Experience, Burden, and Preparedness; (3) Research Priorities and Obstacles. Top box score analyses were performed. Results: A total of 704 stakeholders´ responded from 29 countries representing 55 CNVs. The top reasons for initial participation in the research included reasons related to education and altruism. The top reasons for leaving a research study included treatment risks and side effects. The importance of sharing research findings and laboratory results with stakeholders was underscored by participants. Most stakeholders reported positive research experiences. Conclusions: This study provides important insight into how individuals and families affected with a rare CNV feel toward research participation and their overall experience in rare disease research. There are clear targets for areas of improvement for study teams, although many stakeholders reported positive research experiences. Key findings from this international survey may help advance collaborative research and improve the experience of participants, investigators, and other stakeholders moving forward.

Details

Title
Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research
Author
White, Lauren K 1 ; Crowley, T Blaine 2   VIAFID ORCID Logo  ; Finucane, Brenda 3 ; McClellan, Emily J 1 ; Donoghue, Sarah 2 ; Garcia-Minaur, Sixto 4 ; Repetto, Gabriela M 5   VIAFID ORCID Logo  ; Fischer, Matthias 6 ; Jacquemont, Sebastien 7 ; Gur, Raquel E 1 ; Maillard, Anne M 8   VIAFID ORCID Logo  ; Donald, Kirsten A 9   VIAFID ORCID Logo  ; Bassett, Anne S 10   VIAFID ORCID Logo  ; Swillen, Ann 11   VIAFID ORCID Logo  ; McDonald-McGinn, Donna M 12   VIAFID ORCID Logo 

 Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA 
 Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 
 Geisinger Medical Center, Danville, PA 17821, USA 
 Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, 28046 Madrid, Spain 
 Clinic Aldemana, University for Development, Santiago 7690000, Chile 
 Clinic and Policlinic for Psychiatry and Psychotherapy, University of Rostock, 18147 Rostock, Germany; Sigma-Zentrum, 79713 Bad Säckingen, Germany 
 Sainte Justine Research Center, University of Montreal, Montreal, QC H3T 1J4, Canada 
 Lausanne University Hospital, 1011 Lausanne, Switzerland 
 Department of Paediatrics and Child Health, Red Cross War Memorial Children’s Hospital, Rondebosch, Cape Town 7700, South Africa; Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa 
10  The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, ON M5S 2S1, Canada; Division of Cardiology, Department of Medicine, and Centre for Mental Health, and Toronto General Hospital Research Institute, University Health Network, Toronto, ON M5G 2N2, Canada 
11  Center for Human Genetics, University Hospital UZ Leuven, and Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium 
12  Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Roma, Italy 
First page
169
Publication year
2023
Publication date
2023
Publisher
MDPI AG
e-ISSN
20734425
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2767212631
Copyright
© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.