# Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation

## TL;DR

This paper evaluates the cost-effectiveness of newborn screening for spinal muscular atrophy in the UK and highlights the need for ongoing data collection to address uncertainties.

## Contribution

The study introduces a cost-effectiveness model for SMA newborn screening in the UK and identifies key priorities for future evaluation.

## Key findings

- Newborn screening for SMA could lead to better outcomes and lower costs compared to no screening plus treatment.
- Uncertainties remain regarding treatment reimbursement, costs, and long-term effectiveness.
- An in-service evaluation is proposed to collect UK-specific data for model updates.

## Abstract

Spinal muscular atrophy (SMA) is a genetic condition that causes the degeneration of motor neurons in the spinal cord. Newborn blood spot (NBS) screening can potentially enable diagnosis before symptoms, and presymptomatic treatment is considered to be more effective than symptomatic treatment. In this paper, we present an overview of a cost-effectiveness model of NBS screening for SMA in the UK, informed by key clinical trials and the relevant published literature. Our analyses suggest that implementing screening could result in better outcomes and lower costs compared to the current approach of no screening plus treatment. However, several uncertainties and limitations of the model remain. These include uncertainty in the reimbursement status of nusinersen and risdiplam in the future; the ‘actual’ costs of treatments, as they are under confidential commercial agreements; uncertainty in the long-term effectiveness of presymptomatic and symptomatic treatment; and uncertainty around the incidence of SMA and the costs and the accuracy of NBS screening. An SMA in-service evaluation (ISE) that could capture data specific to the UK is under consideration, and an appropriately designed ISE with ongoing data collection could support periodic updates of clinical and cost-effectiveness estimates of NBS screening for SMA in the UK.