Kylie Tingley1, Doug Coyle2, Ian D Graham2,3, Pranesh Chakraborty4,5,6, Kumanan Wilson2,3,7,8, Beth K Potter2. 1. School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Ottawa, ON, K1G 5Z3, Canada. kting022@uottawa.ca. 2. School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Ottawa, ON, K1G 5Z3, Canada. 3. Ottawa Hospital Research Institute, Ottawa, ON, Canada. 4. Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. 5. Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. 6. Newborn Screening Ontario, Ottawa, ON, Canada. 7. Bruyère Research Institute, Ottawa, ON, Canada. 8. Department of Medicine, University of Ottawa, Ottawa, ON, Canada.
Abstract
BACKGROUND: For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to clinical research that may involve receiving or providing the therapy being evaluated. OBJECTIVE: To understand why and how patients and families with rare metabolic diseases, specialist metabolic physicians, and health policy advisors choose whether to participate in studies and how they use and value research. METHODS: We conducted separate focus group interviews with each stakeholder group (three groups in total); two groups were conducted by telephone and the third was held in-person. Participants were recruited using purposive sampling. We analyzed each interview transcript sequentially using a qualitative description approach to inductively identify key themes. Several strategies to ensure credibility and trustworthiness were used including debriefing sessions after each focus group and having multiple team members review transcripts. RESULTS: Four patients/caregivers, six physicians, and three policy advisors participated. Our findings did not support conventional perspectives that therapeutic misconception (gaining access to treatment) is the main motivating factor for patients/caregivers to participate in clinical research. Rather, patients'/caregivers' expressed reasons for participating in research included advancing science for the next generation and having an opportunity to share their experiences. Patients/caregivers and physicians described the difficulties in weighing risks versus benefits of accepting treatments not well-supported by evidence. Physicians also reported feeling conflicted in their dual role as patient advisor/advocate and evaluator of the evidence. Policy advisors were primarily focused on critically appraising the evidence to make recommendations for the health system. CONCLUSIONS: Stakeholders differ in their perspectives on rare disease research but share concerns about the risks versus benefits of therapies when making individual- and population-level decisions.
BACKGROUND: For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to clinical research that may involve receiving or providing the therapy being evaluated. OBJECTIVE: To understand why and how patients and families with rare metabolic diseases, specialist metabolic physicians, and health policy advisors choose whether to participate in studies and how they use and value research. METHODS: We conducted separate focus group interviews with each stakeholder group (three groups in total); two groups were conducted by telephone and the third was held in-person. Participants were recruited using purposive sampling. We analyzed each interview transcript sequentially using a qualitative description approach to inductively identify key themes. Several strategies to ensure credibility and trustworthiness were used including debriefing sessions after each focus group and having multiple team members review transcripts. RESULTS: Four patients/caregivers, six physicians, and three policy advisors participated. Our findings did not support conventional perspectives that therapeutic misconception (gaining access to treatment) is the main motivating factor for patients/caregivers to participate in clinical research. Rather, patients'/caregivers' expressed reasons for participating in research included advancing science for the next generation and having an opportunity to share their experiences. Patients/caregivers and physicians described the difficulties in weighing risks versus benefits of accepting treatments not well-supported by evidence. Physicians also reported feeling conflicted in their dual role as patient advisor/advocate and evaluator of the evidence. Policy advisors were primarily focused on critically appraising the evidence to make recommendations for the health system. CONCLUSIONS: Stakeholders differ in their perspectives on rare disease research but share concerns about the risks versus benefits of therapies when making individual- and population-level decisions.
Authors: Gail E Henderson; Larry R Churchill; Arlene M Davis; Michele M Easter; Christine Grady; Steven Joffe; Nancy Kass; Nancy M P King; Charles W Lidz; Franklin G Miller; Daniel K Nelson; Jeffrey Peppercorn; Barbra Bluestone Rothschild; Pamela Sankar; Benjamin S Wilfond; Catherine R Zimmer Journal: PLoS Med Date: 2007-11-27 Impact factor: 11.069