(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada

• Published in: Genetics in medicine Vol. 23; no. 2; pp. 272 - 279
• Main Authors: Michaels-Igbokwe, Christine, McInnes, Brenda, MacDonald, Karen V., Currie, Gillian R., Omar, Fadya, Shewchuk, Brittany, Bernier, Francois P., Marshall, Deborah A.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01-02-2021; Elsevier Limited
• Subjects: Alberta; Biomedical and Life Sciences; Biomedicine; Child; Clinical medicine; Data entry; Genetic disorders; Genetic Testing; Genetics; Genomes; Genomics; Genotype & phenotype; Hospitals; Human Genetics; Humans; Laboratory Medicine; Medicine; Microarray Analysis; Patients; Pediatrics; Retrospective Studies; Sample size; Standardized tests; Alberta; diagnostic odyssey; children; genetic disorders; pediatric
• ISSN: 1098-3600; 1530-0366
• DOI: 10.1038/s41436-020-00975-0

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.