Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

被引：20

作者：

Diaby, Vakaramoko ^{[1
]}

Babcock, Aram ^{[2
]}

Huang, Yushi ^{[2
]}

Moussa, Richard K. ^{[3
]}

Espinal, Paula S. ^{[4
]}

Janvier, Michelin ^{[4
]}

Soler, Diana ^{[4
]}

Gupta, Apeksha ^{[4
]}

Jayakar, Parul ^{[5
]}

Diaz-Barbosa, Magaly ^{[6
,7
]}

Totapally, Balagangadhar ^{[8
,9
]}

Sasaki, Jun ^{[7
,10
]}

Jayakar, Anuj ^{[11
,12
]}

Salyakina, Daria ^{[4
]}

机构：

[1] Univ Florida, Dept Pharmaceut Outcomes & Policy POP, Coll Pharm, HPNP 3317, 1225 Ctr Dr, Gainesville, FL 32610 USA

[2] Univ Florida, Dept Pharmaceut Outcomes & Policy POP, Coll Pharm, HPNP 2309, 1225 Ctr Dr, Gainesville, FL 32610 USA

[3] Ecole Natl Super Stat & Econ ENSEA, Cote Ivoire 08 BP 03, Abidjan 08, Cote Ivoire

[4] Nicklaus Childrens Hosp, Personalized Med & Hlth Outcomes Res, 3100 SW 62nd Ave, Miami, FL 33155 USA

[5] Nicklaus Childrens Hosp, Div Genet & Metab, 3100 SW 62nd Ave, Miami, FL 33155 USA

[6] Florida Int Univ, Herbert Wertheim Coll Med, Dept Pediat, 11200 SW 8th St, Miami, FL 33199 USA

[7] Nicklaus Childrens Hosp Miami, 3100 SW 62nd Ave, Miami, FL 33155 USA

[8] Nicklaus Childrens Hosp, Div Crit Care Med, 62nd Ave 3100 SW, Miami, FL 33155 USA

[9] Florida Int Univ, Herbert Wertheim Coll Med, 11200 SW 8th St, Miami, FL 33199 USA

[10] Florida Int Univ, Herbert Wertheim Coll Med, Dept Cardiol, 11200 SW 8th St, Miami, FL 33199 USA

[11] Nicklaus Childrens Hosp, Div Epilepsy, Neurocrit Care, 62nd Ave 3100 SW, Miami, FL 33155 USA

[12] Nicklaus Childrens Hosp, Div Epilepsy, Dept Neurol, 62nd Ave 3100 SW, Miami, FL 33155 USA

来源：

PHARMACOGENOMICS JOURNAL | 2022年 / 22卷 / 04期

关键词：

INFANTS;

D O I：

10.1038/s41397-022-00277-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pediatric patients with diseases of unknown cause. Data were collected prospectively of patients admitted to the Nicklaus Children's Hospital's intensive care units from March 2018 to September 2020, with rWGS (N = 65). Comparative data were collected in a matched retrospective cohort with standard diagnostic genetic testing. We determined total costs, diagnostic yield (DY), and incremental cost-effectiveness ratio (ICER) adjusted for selection bias and right censoring. Sensitivity analyses explored the robustness of ICER through bootstrapping. rWGS resulted in a diagnosis in 39.8% while standard testing in 13.5% (p = 0.026). rWGS resulted in a mean saving per person of $100,440 (SE = 26,497, p < 0.001) and a total of $6.53 M for 65 patients. rWGS in critically ill pediatric patients is cost-effective, cost-saving, shortens diagnostic odyssey, and triples the DY of traditional approaches.

引用

页码：223 / 229

页数：7

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