TY - JOUR
T1 - A novel classification system for research reporting in rare and progressive genetic conditions
AU - van Karnebeek, Clara D. M.
AU - Beumer, Daniël
AU - Pawliuk, Colleen
AU - Goez, Helly
AU - Mostafavi, Sara
AU - Andrews, Gail
AU - Steele, Rose
AU - Siden, Harold
PY - 2019/10/1
Y1 - 2019/10/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062988936&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30868573
U2 - 10.1111/dmcn.14180
DO - 10.1111/dmcn.14180
M3 - Article
C2 - 30868573
VL - 61
SP - 1208
EP - 1213
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
SN - 0012-1622
IS - 10
ER -