A novel classification system for research reporting in rare and progressive genetic conditions
Clara D M van Karnebeek1,2,3, Daniël Beumer4, Colleen Pawliuk5
1Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
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.
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