Clinical utility and cost-effectiveness of genome sequencing for refractory epilepsy in children and adults: a multicentre randomised controlled trial

已经发现了大量的基因组变异，可以支持常见类型的癫痫，并预测药物不良反应。然而，在癫痫的常规管理中采用基因组检测受到其临床效用和成本效益的不确定性的阻碍。这项随机对照试验旨在确定全基因组测序对儿童和成人难治性癫痫的诊断效率、临床和社会心理影响以及成本效益。

A large number of genomic variants have been found to underpin common types of epilepsy and to predict adverse drug reactions. However, the adoption of genomic testing in the routine management of epilepsy is hampered by uncertainties around its clinical utility and cost-effectiveness. This randomised controlled trial aims to determine the diagnostic efficiency, clinical and psychosocial impact, and cost-effectiveness of whole genome sequencing for refractory epilepsy in children and adults.