PharmacoEconomics & Outcomes News 784, p14 - 12 Aug 2017 Early use of WES cost effective in children Early implementation of whole-exome sequencing (WES) to diagnose monogenic disorders in children is cost effective compared with standard diagnostic pathways, according to an article in JAMA Pediatrics. The evaluation of genetic conditions in children is typically invasive and costly, as it involves clinical assessment and multiple investigations. However, diagnosis of monogenic disorders could be revolutionised by analysis of the protein-coding exons of genes, a process known as WES. Between 1 May and 30 November 2015, this prospective study recruited Australian children aged 2–18 years who were suspected of having a monogenic disorder (n=44). Four different scenarios were assessed to evaluate the cost effectiveness of WES at different time points in the diagnostic pathway: firstly, the standard diagnostic pathway without WES; secondly, the standard diagnostic pathway with WES as the final test; thirdly, WES performed at the first genetics appointment; and finally, WES performed at the initial tertiary presentation. Costs were reported in Australian dollars ($A) and included all diagnostic inpatient and outpatient episodes of care, hospital admissions, specialist appointments, case conferences and diagnostic investigations, as well as state-reimbursed travel costs for the family. Costs were obtained from the Clinical Costing department of the hospital and the Australian Medicare Benefits Schedule. A molecular diagnosis was achieved by WES in 23 children (52%), with a clinically unexpected causative gene found in eight cases, and clinical management being altered in six cases. The bootstrapped cost per patient was lowest for the diagnostic pathway offering WES at initial tertiary presentation ($A5186), followed by WES performed at first genetics appointment ($7047), and then the standard diagnostic pathway without WES ($9901) and with WES ($12 912). Additionally, the mean cost per diagnosis was lowest for WES at initial tertiary presentation followed by WES at first genetics appointment, with incremental savings per additional diagnosis of $9020 and $5461 for these pathways, respectively, compared with the standard diagnostic pathway. WES performed at initial tertiary presentation was the most cost-effective option compared with the standard diagnostic pathway. "Our findings suggest that these children are best served by early recognition by their pediatrician and expedited referral to clinical genetics with WES applied after chromosomal microarray but before an extensive diagnostic process", concluded the authors. In an accompanying editorial, Dr Johannes Lemke commented that "implementing WES early within the diagnostic workup could save an enormous amount of effort, time, costs, and patience". Dr Lemke concluded that the study contributed to the growing evidence that high-throughput sequencing techniques "are capable to become the new first-tier diagnostic test in congenital and early-onset disorders". 1. Tan TY, et al. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA Pediatrics : 31 Jul 2017. Available from: URL: http://dx.doi.org/10.1001/ jamapediatrics.2017.1755. 2. Lemke JR. High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders. JAMA Pediatrics : 31 Jul 2017. Available from: URL: http://dx.doi.org/10.1001/jamapediatrics.2017.1970. 1173-5503/17/0784-0001/$14.95 Adis © 2017 Springer International Publishing AG. All rights reserved PharmacoEconomics & Outcomes News 12 Aug 2017 No. 784
PharmacoEconomics & Outcomes News – Springer Journals
Published: Aug 12, 2017
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