How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)
Abstract
Background Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. Methods In the GenROC study, 547 children (mean age 7.6 years, balanced sex ratio) had parallel parent-reported web questionnaires and clinician-reported (CRD) Human Phenotype Ontology proformas. We compared the two sources per participant by system, gene and gene group and overall for quantity, detail and similarity. Results 547 probands were analysed ranging in age from infancy to 16 years (mean 7.6) with similar gender distribution. PRD provided more terms for dental, gastroenterology, immunology and respiratory systems and for vision (p
Fields of Study & Subjects
Genomics and Rare Diseases
Genetic Associations and Epidemiology
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Journal of Medical Genetics
- Publisher
- BMJ
- Volume
- 63
- Issue
- 4
- Pages
- 259–268
- Publication date
- 19 January 2026
- Language
- EN