1591P Whole exome sequencing: Evolution of indications and cost to inform public health policy decision-making

Abstract

Targeted NGS panels are now widely used given their affordable cost and rapidity. Cost and clinical utility of more recent technologies such as whole exome sequencing (WES) are less documented. Economic evaluations are needed to inform decision-making regarding the sustainability and the funding by healthcare systems of these technologies and to settle reimbursement tariffs respecting a balance between incentives and risk sharing. Here, we report the experience of WES activity at Gustave Roussy (GR) cancer center and a cost analysis of WES in the French context. We interviewed oncologists, biologists and decision-makers regarding NGS and WES applications in oncology in France. We estimated the cost of WES applications at GR from the perspective of the healthcare provider for the years 2015 and 2018. The entire workflow process of a WES test from library preparation to bioinformatics analyses was tracked. The number and unit price of each resource were identified at the most detailed level using both micro-costing and gross-costing methods. In addition, we conducted an ad hoc analysis of the bioinformatics storage costs of data issued from WES analyses. In France, WES is mainly used in research setting. But the implementation of multidisciplinary molecular tumour boards and the launch of the "France genomic medicine 2025 plan” is changing the practices to consider WES for patients in whom targeted panels are insufficient to detect a targetable molecular abnormality. The number of WES performed at GR increased from 248 samples in 2015 to 1 555 in 2018. In the meantime, the cost of WES has decreased substantially (-58%), from €1 921 per sample in 2015 to €804 per sample in 2018. Bioinformatics cost of WES data storage has increased from €18 587 to €190 800 and new professions like data managers have emerged. The cost of WES has become affordable. But from a public health perspective, clinical utility and efficiency still need to be confirmed. Cost-effectiveness studies are necessary to guide public decision-making regarding the use and the reimbursement of this technology in routine practice at a time when large-scale genomic medicine plans are being implemented in many countries.