Christine Michaels-Igbokwe1,2, Brenda McInnes3, Karen V MacDonald4, Gillian R Currie5,4,6,7, Fadya Omar3, Brittany Shewchuk4, Francois P Bernier3,7, Deborah A Marshall4,6,7. 1. Cumming School of Medicine, Department of Paediatrics, University of Calgary, Calgary, AB, Canada. michaels-igbokwe@ucalgary.ca. 2. Cumming School of Medicine, Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada. michaels-igbokwe@ucalgary.ca. 3. Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. 4. Cumming School of Medicine, Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada. 5. Cumming School of Medicine, Department of Paediatrics, University of Calgary, Calgary, AB, Canada. 6. O'Brien Institute for Public Health, University of Calgary, Calgary, AB, Canada. 7. Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
Abstract
PURPOSE: We provide a description of the diagnostic odyssey for a cohort of children seeking diagnosis of a rare genetic disorder in terms of the time from initial consultation to most recent visit or receipt of diagnosis, the number of tests per patient, and the types of tests received. METHODS: Retrospective chart review of 299 children seen at the Alberta Children's Hospital (ACH) Genetics Clinic (GC) for whom the result of at least one single-gene test, gene panel, or chromosome microarray analysis (CMA) was recorded. RESULTS: Of 299 patients, 90 (30%) received a diagnosis in the period of the review. Patients had an average of 5.4 tests each; 236 (79%) patients received CMA; 172 (58%) patients received single-gene tests and 34 (11%) received gene panels; 167 (56%) underwent imaging/electrical activity studies. The mean observation period was 898 days (95% confidence interval [CI] 791, 1004). Among patients with visits recorded prior to visiting ACH GC, 43% of the total observation time occurred prior to the GC. CONCLUSION: As genomic technologies expand, the nature of the diagnostic odyssey will change. This study has outlined the current standard of care in the ACH GC, providing a baseline against which future changes can be assessed.
PURPOSE: We provide a description of the diagnostic odyssey for a cohort of children seeking diagnosis of a rare genetic disorder in terms of the time from initial consultation to most recent visit or receipt of diagnosis, the number of tests per patient, and the types of tests received. METHODS: Retrospective chart review of 299 children seen at the Alberta Children's Hospital (ACH) Genetics Clinic (GC) for whom the result of at least one single-gene test, gene panel, or chromosome microarray analysis (CMA) was recorded. RESULTS: Of 299 patients, 90 (30%) received a diagnosis in the period of the review. Patients had an average of 5.4 tests each; 236 (79%) patients received CMA; 172 (58%) patients received single-gene tests and 34 (11%) received gene panels; 167 (56%) underwent imaging/electrical activity studies. The mean observation period was 898 days (95% confidence interval [CI] 791, 1004). Among patients with visits recorded prior to visiting ACH GC, 43% of the total observation time occurred prior to the GC. CONCLUSION: As genomic technologies expand, the nature of the diagnostic odyssey will change. This study has outlined the current standard of care in the ACH GC, providing a baseline against which future changes can be assessed.
Authors: Amelle Shillington; Martine Lamy; Kelli C Dominick; Michael Sorter; Craig A Erickson; Robert Hopkin Journal: Front Genet Date: 2022-06-13 Impact factor: 4.772
Authors: Maya Chopra; Meera E Modi; Kira A Dies; Nancy L Chamberlin; Elizabeth D Buttermore; Stephanie Jo Brewster; Lisa Prock; Mustafa Sahin Journal: Mol Ther Methods Clin Dev Date: 2022-08-29 Impact factor: 5.849
Authors: Robin Z Hayeems; Francois Bernier; Kym M Boycott; Taila Hartley; Christine Michaels-Igbokwe; Deborah A Marshall Journal: BMJ Open Date: 2022-10-10 Impact factor: 3.006