Economic Utility

Select publications that evaluate the cost effectiveness of clinical WGS
Project baby bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care.
Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D’Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi V, Wigby K, Zadeh N, Farnaes L. Am J Hum Genet. 2021 May 29S0002-9297(21)00192-0. doi: 10.1016/j.ajhg.2021.05.008. Epub ahead of print. PMID: 34089648.

Rapid WGS was performed on 184 critically ill infants with Medi-Cal who met study criteria. Outcomes were measured by healthcare provider questionnaires and modeled processes to estimate clinical management changes and cost savings to the hospital. A total of 74/184 (40%) infants received a diagnosis and 58 of 184 (32%) experience at least one change in medical care. Both positive and negative results led to changes in management and/or cost savings. Cost savings was calculated based on a smaller cohort of 31 infants whose length of stay was impacted by rWGS results. Considering the cost of rWGS for the entire cohort, the average cost savings was $2549-6294 per child. The authors concluded that rapid WGS can be deployed as a first-tier test in the NICU.

Estimating the burden and economic impact of pediatric genetic disease
Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ. Genet Med. 2019.  doi: 10.1038/s41436-019-0458-5. Epub ahead of print.

To estimate the economic burden of genetic disease in pediatric patients, the authors analyzed the 2012 KID database, a national all-payer database for children in US that includes 10% of uncomplicated births and 80% of complicated in-hospital births. Genetic disease-linked discharges were associated with higher healthcare utilization, including additional procedures (up to 4 more), longer length of stay (2-18 days) and higher total costs per discharge ($12,000-$77,000). Discharges with multiple genetic disease-linked diagnosis codes yield higher cost per discharge with an incremental increase of $13,999 per code (up to 7th code). Overall genetic disease-linked discharges account for a proportionately larger amount of the “national bill” vs. non genetic disease-linked.

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici, JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN, Friedman J, Gold JJ, Ding Y, Veeraraghavan N, Dimmock D, Kingsmore SF.  NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525- 018-0049-4.

Ewans et al., Lavelle et al.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. Ewans, L.J., Minoche, et al. Eur J Hum Genet, 2022

Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions .Lavelle TA, Feng X, Keisler M, et al.  Genet Med.[published online ahead of print, 2022 Apr 8]. 2022;S1098-3600(22)00682-7. doi:10.1016/j.gim.2022.03.005

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