Melanie P Napier1, Kavin Selvan2,3,4, Robin Z Hayeems2,5,6, Cheryl Shuman7,8, David Chitayat7,9, Joanne E Sutherland3, Megan A Day3, Elise Héon10,11,12. 1. Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada. 2. Genetics and Genome Biology (GGB) Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada. 3. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. 4. Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. 5. Child Health Evaluative Sciences (CHES) Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada. 6. Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada. 7. Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, Toronto, ON, Canada. 8. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. 9. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada. 10. Genetics and Genome Biology (GGB) Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada. elise.heon@sickkids.ca. 11. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. elise.heon@sickkids.ca. 12. Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. elise.heon@sickkids.ca.
Abstract
AIMS/ PURPOSE: To investigate Leber congenital amaurosis (LCA) patients' expectations, decision-making processes and gene therapy-related concerns. METHODS: Using a qualitative approach, we explored perceptions of gene therapy and clinical trials among individuals with LCA. Young adults with a clinical diagnosis of LCA were recruited through the Ocular Genetics Programme at the Hospital for Sick Children. Semi-structured interviews were conducted with ten patients and analysed following the principles of qualitative description. RESULTS: Study participants were aware of ongoing gene therapy research trials and actively sought information regarding advances in ophthalmology and vision restoration. The majority of participants would enrol or were enrolled in a gene-replacement therapy trial, while a minority was ambivalent or would not enrol if provided an opportunity. Participants attributed different values to clinical trials, which influenced their willingness to participate. Intrinsic factors related to coping, adaptation to vision loss and resilience also influenced decision-making. DISCUSSION: This study highlights the complex factors involved in gene-therapy-related decision-making and acts as a proponent for adopting patient-centred care strategies when counselling individuals considering gene therapy or clinical trial participation.
AIMS/ PURPOSE: To investigate Leber congenital amaurosis (LCA) patients' expectations, decision-making processes and gene therapy-related concerns. METHODS: Using a qualitative approach, we explored perceptions of gene therapy and clinical trials among individuals with LCA. Young adults with a clinical diagnosis of LCA were recruited through the Ocular Genetics Programme at the Hospital for Sick Children. Semi-structured interviews were conducted with ten patients and analysed following the principles of qualitative description. RESULTS: Study participants were aware of ongoing gene therapy research trials and actively sought information regarding advances in ophthalmology and vision restoration. The majority of participants would enrol or were enrolled in a gene-replacement therapy trial, while a minority was ambivalent or would not enrol if provided an opportunity. Participants attributed different values to clinical trials, which influenced their willingness to participate. Intrinsic factors related to coping, adaptation to vision loss and resilience also influenced decision-making. DISCUSSION: This study highlights the complex factors involved in gene-therapy-related decision-making and acts as a proponent for adopting patient-centred care strategies when counselling individuals considering gene therapy or clinical trial participation.
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