39- Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing Value of Genetic Testing from Patients’ Perspectives in Multiple Clinical Contexts

Introduction: Determining the value and ethical use of genetic testing requires metrics that include the patient perspective. The purpose of this study is to develop the Patient-reported Genetic testing Utility InDEx (P-GUIDE), a novel outcome measure, for multiple clinical contexts.

Methods: We are developing multiple versions of P-GUIDE for genetic testing across life stages: prenatal, pediatrics (neurodevelopmental disorders (NDD) and oncology) and adolescence. Evidence synthesis informed domains and preliminary items for each version of P-GUIDE. Cognitive interviews and surveys were conducted with participants from each cohort. Participants reflected on the meaning of personal utility and provided feedback on the relevance, comprehensibility, and comprehensiveness of preliminary items. Item-specific feedback was synthesized to inform revisions.

Results: Seventy-two interviews have been conducted to date (prenatal = 20; NDD = 21; oncology = 20; adolescents = 11). Most participants were female (81%), and genetic testing was diagnostic for 35%. Domains of personal utility (cognitive, affective, behavioural, social, and medical management) resonated with participants across clinical contexts. Interview and survey data indicated most items were clearly understood, but wording changes were recommended. Irrelevant or redundant items were removed. Core themes related to understanding the reason for their/their child’s condition and contributing to scientific knowledge resonated across contexts. New context-specific items emerged for each version. Validation work is ongoing.

Conclusion: Once validated, evidence generated from the use of P-GUIDE will constitute a standardized measure of personal utility for genetic testing, enhancing the voices of patients and families in health technology assessments, policy deliberations and funding recommendations. 

Authors: Elise Poole, The Hospital for Sick Children; Stephanie Luca, The Hospital for Sick Children; Daniel Assamad, The Hospital for Sick Children; Bowen Xiao, The Hospital for Sick Children; Joyce Yan, The Hospital for Sick Children; Pooja Banglorewala, The Hospital for Sick Children; Cheryl Xia, University of Toronto; Wendy J. Ungar, The Hospital for Sick Children Research Institute; Lesleigh S. Abbott, Children's Hospital of Eastern Ontario; Linlea Armstrong, British Columbia Children’s Hospital; Patricia Birch, British Columbia Children’s Hospital; Kym M. Boycott, Children's Hospital of Eastern Ontario; June C. Carroll, Sinai Health, University of Toronto; Lauren Chad, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; David Chitayat, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Avram Denburg, The Hospital for Sick Children; Rebecca J. Deyell, British Columbia Children’s Hospital; Alison M. Elliott, British Columbia Children’s Hospital; Catherine Goudie, McGill University Health Centre; Anne-Marie Laberge, Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Ste-Justine, Montreal, Canada; Melissa Maio, Mackenzie Richmond Hill Hospital; Iskra Peltekova, Holland Bloorview Kids Rehabilitation Hospital; Becky Quinlan, Ontario Genetics Advisory Committee; Sarah L. Sawyer, ssawyer@cheo.on.ca; Children's Hospital of Eastern Ontario Rachel, Silver; Mount Sinai Hospital, Sinai Health System, Toronto, ON. Maureen, Smith; Canadian Organization for Rare Disorders Ronni, Teitelbaum; Medcan, Toronto, ON, Anita Villani, The Hospital for Sick Children; Tasha Wainstein, British Columbia Children’s Hospital; Robin Z. Hayeems, The Hospital for Sick Children