Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
| Autor: | Monroe, G.R., Frederix, G.W.J., Savelberg, S.M., de Vries, T.I., Duran, K.J., van der Smagt, J.J., Terhal, P.A., van Hasselt, P.M., Kroes, H.Y., Verhoeven - Duif, N.M., Nijman, I.J., Carbo, E.C., van Gassen, K.L.I., Knoers, N.V., Hövels, A.M., van Haelst, M.M., Visser, G., Van Haaften, G., Sub Pharmacotherapy, Theoretical, Pharmacoepidemiology and Clinical Pharmacology |
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| Přispěvatelé: | Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Total cost Bioinformatics Genetic Testing/economics 03 medical and health sciences cost analysis Exome Sequencing Intellectual disability Journal Article medicine clinical management Humans Genetics(clinical) Exome Medical physics In patient Genetic Testing whole-exome sequencing Genetics (clinical) Average cost Exome sequencing health care economics and organizations Medicine(all) business.industry Intellectual Disability/diagnosis High-Throughput Nucleotide Sequencing Sequence Analysis DNA DNA medicine.disease Cost savings 030104 developmental biology intellectual disability Costs and Cost Analysis Whole Exome Sequencing/economics Resource use Female business Sequence Analysis |
| Zdroj: | Genetics in Medicine, 18(9), 949-56. Lippincott Williams and Wilkins Genetics in Medicine, 18(9), 949. Lippincott Williams and Wilkins Genetics in medicine, 18(9), 949-956. Lippincott Williams and Wilkins Genetics in Medicine, 18(9), 949-956. Nature Publishing Group Monroe, G R, Frederix, G W, Savelberg, S M C, de Vries, T I, Duran, K J, van der Smagt, J J, Terhal, P A, van Hasselt, P M, Kroes, H Y, Verhoeven-Duif, N M, Nijman, I J, Carbo, E C, van Gassen, K L, Knoers, N V, Hövels, A M, van Haelst, M M, Visser, G & van Haaften, G 2016, ' Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability ', Genetics in Medicine, vol. 18, no. 9, pp. 949-56 . https://doi.org/10.1038/gim.2015.200 |
| ISSN: | 1098-3600 |
| Popis: | PURPOSE: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients' diagnostic trajectory in order to evaluate early WES implementation.METHODS: We compared 17 patients' trio-WES yield with the retrospective costs of diagnostic procedures by comprehensively examining patient records and collecting resource use information for each patient, beginning with patient admittance and concluding with WES initiation. We calculated cost savings using scenario analyses to evaluate the costs replaced by WES when used as a first diagnostic tool.RESULTS: WES resulted in diagnostically useful outcomes in 29.4% of patients. The entire traditional diagnostic trajectory average cost was $16,409 per patient, substantially higher than the $3,972 trio-WES cost. WES resulted in average cost savings of $3,547 for genetic and metabolic investigations in diagnosed patients and $1,727 for genetic investigations in undiagnosed patients.CONCLUSION: The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics. This information is crucial for centers considering implementation of WES and serves as input for future value-based research into diagnostics.Genet Med 18 9, 949-956. |
| Databáze: | OpenAIRE |
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