Genet Med. 2024 Nov 15:101330. doi: 10.1016/j.gim.2024.101330. Online ahead of print.
ABSTRACT
PURPOSE: Exome and genome sequencing (ES, GS) are useful tests to diagnose rare disease in pediatric patients in critical care settings. Genomic test stewardship can increase appropriate use of these tests leading to improved diagnostics and cost savings.
METHODS: Mandatory review of ES and GS orders for admitted patients was implemented in March 2023. Outcomes of the reviews, cost analysis, and subsequent test results through February 2024 were analyzed with descriptive statistics.
RESULTS: There were 444 Genetic Test Request (GTR) orders placed for 412 unique patients. Of these, 81 (18.2%) were redirected and 57 (12.8%) required modification after approval leading to an overall cost savings of $345,821.00 USD or $778 USD per order. The combined diagnostic rate was 28.2% in this patient population.
CONCLUSION: Stewardship of ES/GS orders for pediatric inpatients is an effective tool to improve appropriate usage of these genomic tests. Additional collaboration with stakeholders and expansion of genomic stewardship initiatives may shorten the diagnostic odyssey for critically ill pediatric patients and result in cost savings.
PMID:39559977 | DOI:10.1016/j.gim.2024.101330
