Estimating the value of genomic newborn screening in England: A pragmatic threshold analysis
Date:
This study estimates the value of newborn genetic screening based on a pragmatic threshold analysis, which computes the average net monetary benefit/QALYs required for screening to be cost-effective within the English setting. An average QALY gain of 6.9 was found to be required for cost-effectiveness, representing a study-level average using an incidence of 341 per 100,000 and a screening cost of £1,200 per newborn. This analysis provides early insight into the health gains needed for gNBS to be cost-effective in England
Abstract:
Genomics England’s Generation Study will sequence 100,000 newborns to screen for more than 200 rare conditions (≈500 genes). As part of the programme, an economic evaluation will assess the cost-effectiveness of genomic newborn screening (gNBS). To provide early, decision-oriented insight ahead of the full evaluation, we conducted a pragmatic threshold analysis to estimate the minimum health gains required for gNBS to be cost-effective at established willingness-to-pay (WTP) thresholds. Panel-wide birth prevalence for 200+ conditions was extrapolated from a sample of 50 conditions (68 genes). UK sequencing costs were identified through a literature review of Embase and MEDLINE (29 January 2026). Breakeven QALY requirements were calculated at £51,000/QALY gained, with scenario analyses at £30,000 and £100,000/QALY gained.
Assuming £900–£1,600 gNBS costs per newborn and a 0.3–0.6% panel wide birth prevalence, the central scenario (£1,200; 0.44%) yields an average breakeven requirement of 5.4 QALYs gained per affected infant. Across the WTP scenarios tested, the breakeven requirement ranged from 2.7 to 9.2 QALYs per affected infant. Potential sources of health gain include earlier initiation of effective treatments and avoidance of prolonged diagnostic odysseys.
This analysis provides early insight into the health gains needed for gNBS to be cost-effective in England. A 5.4 QALY gain represents the ‘average’ breakeven requirement across the panel. Some conditions may yield larger gains—for example, spinal muscular atrophy, where substantial QALY benefits arise from early intervention—while others may yield smaller gains. These findings can help guide an archetype-based approach to assessing cost-effectiveness, thereby avoiding individual-condition models.
Recommended citation: Lee, J., Stawowczyk, E., Springate, C., Padgett, T., Bailey, M. (2026) Estimating the value of genomic newborn screening in England: a pragmatic threshold analysis. Genomics England Research Summit 2026, 23 June 2026; Poster.