BUDGET IMPACT OF RAPID WHOLE-GENOME SEQUENCING FOR CRITICALLY ILL PEDIATRIC PATIENTS WITH RARE UNDIAGNOSED GENETIC DISEASES IN THE UNITED ARAB EMIRATES
Author(s)
Nordin Charafi, BSc, MSc1, Denise Zou, MS2, Weicheng Ye, MPH3, Ahmad Tayoun, PhD4.
1Senior Director of Market Access, Asia Pacific and Japan, Illumina, Singapore, Singapore, 2Thermo Fisher Scientific, Wilmington, NC, USA, 3Thermo Fisher Scientific, Waltham, MA, USA, 4Dubai Health Authority, Dubai, United Arab Emirates.
1Senior Director of Market Access, Asia Pacific and Japan, Illumina, Singapore, Singapore, 2Thermo Fisher Scientific, Wilmington, NC, USA, 3Thermo Fisher Scientific, Waltham, MA, USA, 4Dubai Health Authority, Dubai, United Arab Emirates.
OBJECTIVES: To estimate the budget impact of rapid whole-genome sequencing (rWGS) for critically ill pediatric patients with undiagnosed genetic diseases in intensive care, in the United Arab Emirates (UAE), compared with current practice.
METHODS: A microsimulation model with a decision tree framework was developed in Microsoft Excel from the UAE healthcare payer perspective over a 1-year horizon. Five strategies were evaluated: single-gene testing (SGT), chromosomal microarray analysis (CMA), whole-exome sequencing (WES), CMA followed by WES, and rWGS. The reference scenario reflected a weighted mix of the first four strategies based on current testing patterns in the Middle East. Inputs included diagnostic yield, turnaround time, survival, testing costs, pre- and post-genetic service costs, and hospitalization costs. Clinical inputs were primarily informed by a prospective UAE study assessing the diagnostic utility of rWGS and supplemented by literature. All testing was assumed to occur during inpatient care, with WES and rWGS modeled as trio tests. Due to limited UAE-specific data, costs for genetic service and length of stay were conservatively based on international sources. The primary outcome was annual cost per person.
RESULTS: In a cohort of 100 patients, mean costs were 164,690 AED per person for rWGS and 145,589 AED for the reference scenario, yielding an incremental cost of 19,101 AED. Higher testing costs with rWGS were partially offset by reduced hospitalization costs, reflecting a shorter average length of stay (53.05 vs 56.00 days; conservatively estimated). Under a higher intensive care unit (ICU) cost assumption of 10,000 AED per diem, the incremental cost decreased to 15,977 AED per patient, assuming 15% ICU utilization; rWGS became cost-saving when ICU utilization increased to 100%.
CONCLUSIONS: From the UAE payer perspective, rWGS may offer greater economic value where faster diagnosis reduces inpatient utilization, with the estimated budget impact sensitive to cost assumptions.
METHODS: A microsimulation model with a decision tree framework was developed in Microsoft Excel from the UAE healthcare payer perspective over a 1-year horizon. Five strategies were evaluated: single-gene testing (SGT), chromosomal microarray analysis (CMA), whole-exome sequencing (WES), CMA followed by WES, and rWGS. The reference scenario reflected a weighted mix of the first four strategies based on current testing patterns in the Middle East. Inputs included diagnostic yield, turnaround time, survival, testing costs, pre- and post-genetic service costs, and hospitalization costs. Clinical inputs were primarily informed by a prospective UAE study assessing the diagnostic utility of rWGS and supplemented by literature. All testing was assumed to occur during inpatient care, with WES and rWGS modeled as trio tests. Due to limited UAE-specific data, costs for genetic service and length of stay were conservatively based on international sources. The primary outcome was annual cost per person.
RESULTS: In a cohort of 100 patients, mean costs were 164,690 AED per person for rWGS and 145,589 AED for the reference scenario, yielding an incremental cost of 19,101 AED. Higher testing costs with rWGS were partially offset by reduced hospitalization costs, reflecting a shorter average length of stay (53.05 vs 56.00 days; conservatively estimated). Under a higher intensive care unit (ICU) cost assumption of 10,000 AED per diem, the incremental cost decreased to 15,977 AED per patient, assuming 15% ICU utilization; rWGS became cost-saving when ICU utilization increased to 100%.
CONCLUSIONS: From the UAE payer perspective, rWGS may offer greater economic value where faster diagnosis reduces inpatient utilization, with the estimated budget impact sensitive to cost assumptions.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
EE556
Topic
Economic Evaluation, Medical Technologies, Study Approaches
Topic Subcategory
Budget Impact Analysis
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, Pediatrics, Personalized & Precision Medicine