(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada.
Genet Med
; 23(2): 272-279, 2021 02.
Article
in En
| MEDLINE
| ID: mdl-32989270
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Testing
/
Genomics
Type of study:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Child
/
Humans
Country/Region as subject:
America do norte
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2021
Document type:
Article
Affiliation country:
Canada