Clara D M van Karnebeek1,2,3, Daniël Beumer4, Colleen Pawliuk5, Helly Goez6, Sara Mostafavi1, Gail Andrews5, Rose Steele7, Harold Siden3,5. 1. Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada. 2. Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, the Netherlands. 3. Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada. 4. Department of Anesthesiology, Amsterdam University Medical Centres, Amsterdam, the Netherlands. 5. BC Children's Hospital Research Institute, Vancouver, BC, Canada. 6. Division of Pediatric Neurology, Department of Pediatrics, University of Alberta, Stollery Children's Hospital, Edmonton, AB, Canada. 7. School of Nursing, Faculty of Health, York University, Toronto, ON, Canada.
Abstract
AIM: To create a classification system for severe, rare, and progressive genetic conditions for use in research reporting. METHOD: A modified Delphi consensus technique was used to create and reach agreement on a new system of condition categories. Interrater reliability was tested via two rounds of an online survey whereby physicians classified a subset of conditions using our novel system. Overall percentage agreement and agreement above chance were calculated using Fleiss' kappa (κ). RESULTS: Eleven physicians completed the first Delphi, with an overall agreement of 76.4%, the κ value was 0.57 (95% confidence interval 0.51-0.63), indicating moderate agreement (0.41-0.60) above chance. Based on the first survey several categories were described in more detail. The second survey confirmed a classification system with 12 categories, with an overall percentage agreement among the participants of 82.6%. The overall mean κ value was 0.71 (95% confidence interval 0.65-0.77), indicating substantial agreement (0.61-0.80). INTERPRETATION: Our new system was useful in categorizing a broad range of rare childhood diseases and may be applicable to other rare disease studies; further validation in larger cohorts is required. WHAT THIS PAPER ADDS: This novel 12-category classification system can be used in research reporting in rare and progressive genetic conditions.
AIM: To create a classification system for severe, rare, and progressive genetic conditions for use in research reporting. METHOD: A modified Delphi consensus technique was used to create and reach agreement on a new system of condition categories. Interrater reliability was tested via two rounds of an online survey whereby physicians classified a subset of conditions using our novel system. Overall percentage agreement and agreement above chance were calculated using Fleiss' kappa (κ). RESULTS: Eleven physicians completed the first Delphi, with an overall agreement of 76.4%, the κ value was 0.57 (95% confidence interval 0.51-0.63), indicating moderate agreement (0.41-0.60) above chance. Based on the first survey several categories were described in more detail. The second survey confirmed a classification system with 12 categories, with an overall percentage agreement among the participants of 82.6%. The overall mean κ value was 0.71 (95% confidence interval 0.65-0.77), indicating substantial agreement (0.61-0.80). INTERPRETATION: Our new system was useful in categorizing a broad range of rare childhood diseases and may be applicable to other rare disease studies; further validation in larger cohorts is required. WHAT THIS PAPER ADDS: This novel 12-category classification system can be used in research reporting in rare and progressive genetic conditions.
Authors: Cartik Kothari; Siddharth Srivastava; Youssef Kousa; Rima Izem; Marcin Gierdalski; Dongkyu Kim; Amy Good; Kira A Dies; Gregory Geisel; Hiroki Morizono; Vittorio Gallo; Scott L Pomeroy; Gwenn A Garden; Lisa Guay-Woodford; Mustafa Sahin; Paul Avillach Journal: J Neurodev Disord Date: 2022-03-23 Impact factor: 4.025