Genetic disorders affecting children can lead to complex clinical pathways, fast clinical deterioration and infant mortality. Rapid genomic testing (RGT) can provide an early diagnosis and trigger appropriate clinical trajectories for children, ultimately improving health outcomes while potentially reducing costs. In this commentary, the authors critically appraised an existing economic evaluation of different rapid genomic testing strategies in an Australian hospital care setting. The authors highlighted how the study suitably set the decision problem, perspective, model structure, costs and interpretation of the results of the economic evaluation. However, limitations associated with the short-term horizon employed and the lack of clinical and quality-of-life outcomes emerged. Building on the economic evaluation's limitations, the authors formulated implications for practice reflecting recent developments on RGT and suggested avenues for future research. Addressing these limitations would further strengthen the economic case for RGT, provided that barriers and facilitation of its wide-scale implementation are taken into account. Ensuring wide-scale accessibility, effective systemic coordination and communication, offering education training opportunities to practitioners, reaping economies of scale to take advantage of likely changes in costs and differential cost-effectiveness of RGT for specific disorders and severity levels could be pursued in order for RGT to become part of the paediatric diagnostic toolbox.
Weston et al. (Fri,) studied this question.