Economic evaluation of next-generation sequencing technologies in paediatric patient groups with confirmed or possible rare diseases: A systematic literature review.

Purpose Next-generation sequencing (NGS) can accelerate the diagnosis of rare diseases (RDs). Economic evaluations assess the costs and benefits of new technologies and can help inform policy decisions on upscaled adoption into clinical practice. This review synthesises current evidence on the economic evaluation of NGS for diagnosing RDs in paediatrics.Methods Seven databases were consulted to identify full economic evaluations of NGS technologies used in the RD screening pathway for paediatric populations. Eligible studies were conducted in Organisation for Economic Co-operation and Development (OECD) or European Union (EU) member countries published between January 2015 and May 2024.Results Of the 25 studies, most found NGS to be cost-effective compared with standard diagnostic methods, especially when used early in the diagnostic pathway. There remains significant variability in study methodology (including study perspective and lack of long-term cost considerations) which limits comparability of evidence. There has also been limited evaluation of NGS screening in healthy or asymptomatic populations (e.g. newborn screening).Conclusion Whilst evidence shows that NGS technologies are generally cost-effective when used to screen for RD in paediatrics, there is a need for standardised approaches to contribute robust evidence that can be used to effectively support healthcare policy in this area.