Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Eur J Hum Genet
; 30(1): 117-125, 2022 01.
Article
in En
| MEDLINE
| ID: mdl-34690354
ABSTRACT
This single-center study aims to determine the time, diagnostic procedure, and cost saving potential of early exome sequencing in a cohort of 111 individuals with genetically confirmed neurodevelopmental disorders. We retrospectively collected data regarding diagnostic time points and procedures from the individuals' medical histories and developed criteria for classifying diagnostic procedures in terms of requirement, followed by a cost allocation. All genetic variants were re-evaluated according to ACMG recommendations and considering the individuals' phenotype. Individuals who developed first symptoms of their underlying genetic disorder when Next Generation Sequencing (NGS) diagnostics were already available received a diagnosis significantly faster than individuals with first symptoms before this cutoff. The largest amount of potentially dispensable diagnostics was found in genetic, metabolic, and cranial magnetic resonance imaging examinations. Out of 407 performed genetic examinations, 296 (72.7%) were classified as potentially dispensable. The same applied to 36 (27.9%) of 129 cranial magnetic resonance imaging and 111 (31.8%) of 349 metabolic examinations. Dispensable genetic examinations accounted 302,947.07 (90.2%) of the total 335,837.49 in potentially savable costs in this cohort. The remaining 32,890.42 (9.8%) are related to non-required metabolic and cranial magnetic resonance imaging diagnostics. On average, the total potentially savable costs in our study amount to 3,025.56 per individual. Cost savings by first tier exome sequencing lie primarily in genetic, metabolic, and cMRI testing in this German cohort, underscoring the utility of performing exome sequencing at the beginning of the diagnostic pathway and the potential for saving diagnostic costs and time.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spasms, Infantile
/
Developmental Disabilities
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Genetic Testing
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Rare Diseases
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Exome Sequencing
Type of study:
Diagnostic_studies
/
Guideline
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Health_economic_evaluation
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
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Adult
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Child
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Child, preschool
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Humans
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Infant
Language:
En
Journal:
Eur J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2022
Document type:
Article
Affiliation country:
Germany