Cost Effectiveness of Whole Exome Sequencing for Children with Developmental Delay in a Developing Country: A Study from Jordan

Abstract

This retrospective study aimed to determine the cost effectiveness of whole exome sequencing (WES) in the diagnosis of children with developmental delay in a developing country. In this study of 40 patients, the average cost of traditional investigations and indirect costs related to rehabilitation and medications per child were USD847 and 6,585 per year, respectively. With a current cost for WES of approximately USD1,200, we concluded that performing WES could be cost effective, even in countries with limited resources, as it provides the option for genetic counseling in affected families with an ultimate reduction of overall financial burden to both parents and health care system.

Keywords

whole exome sequencing - developmental delay - Jordan

• References

• 1 Shashi V, McConkie-Rosell A, Rosell B. et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 2014; 16 (02) 176-182
• 2 Ropers HH. On the future of genetic risk assessment. J Community Genet 2012; 3 (03) 229-236
• 3 Yavarna T, Al-Dewik N, Al-Mureikhi M. et al. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet 2015; 134 (09) 967-980
• 4 Charng WL, Karaca E, Coban Akdemir Z. et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 2016; 9 (01) 42
• 5 Alfares A, Alfadhel M, Wani T. et al. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab 2017; 121 (02) 91-95
• 6 Schwarze K, Buchanan J, Taylor JC, Wordsworth S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med 2018; 20 (10) 1122-1130
• 7 Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V. et al. Whole exome sequencing in neurogenetic odysseys: an effective, cost- and time-saving diagnostic approach. PLoS One 2018; 13 (02) e0191228
• 8 Makrythanasis P, Nelis M, Santoni FA. et al. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat 2014; 35 (10) 1203-1210
• 9 Assoum M, Philippe C, Isidor B. et al. Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy. Am J Hum Genet 2016; 99 (06) 1368-1376
• 10 Genereaux D, van Karnebeek CD, Birch PH. Costs of caring for children with an intellectual developmental disorder. Disabil Health J 2015; 8 (04) 646-651
• 11 Stabile M, Allin S. The economic costs of childhood disability. Future Child 2012; 22 (01) 65-96
• 12 Soden SE, Saunders CJ, Willig LK. et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 2014; 6 (265) 265ra168
• 13 Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med 2012; 63: 35-61
• 14 Boyd SD. Diagnostic applications of high-throughput DNA sequencing. Annu Rev Pathol 2013; 8: 381-410
• 15 Reuter MS, Tawamie H, Buchert R. et al. Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA Psychiatry 2017; 74 (03) 293-299