Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

Abstract

Spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) are rare, inherited genetic disorders with severe mortality and morbidity. The benefits of early diagnosis and initiation of treatment are now increasingly recognized, with the most benefits in patients treated prior to symptom onset. The aim of the economic evaluation was to investigate the costs and outcomes associated with the introduction of universal newborn screening (NBS) for SCID and SMA, by generating measures of cost-effectiveness and budget impact. A stepwise approach to the cost-effectiveness analyses by decision analytical models nested with Markov simulations for SMA and SCID were conducted from the government perspective. Over a 60-year time horizon, screening every newborn in the population and treating diagnosed SCID by early hematopoietic stem cell transplantation and SMA by gene therapy, would result in 95 QALYs gained per 100,000 newborns, and result in cost savings of USD 8.6 million. Sensitivity analysis indicates 97% of simulated results are considered cost-effective against commonly used willingness-to-pay thresholds. The introduction of combined NBS for SCID and SMA is good value for money from the long-term clinical and economic perspectives, representing a cost saving to governments in the long-term, as well as improving and saving lives.

Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency

“…The SMA/PID NBS has two parts (a) the screening in the NBS laboratory, and, where indicated, (b) the further diagnostic assessment. Up until July 2020, 202,388 newborns in these two states were screened for both SMA and PID in a combined testing panel [ 20 ]. These two states approximate one third of all births in Australia where NBS uptake is extremely high with over 99% of live births screened.…”

“…Costs considered in the models included screening, investigation (including true and false positives), diagnosis, HSCT treatment, and direct medical care. The screening costs were provided from the NSW/ACT pilot NBS program [ 20 ]. All other costs were based on Van der Ploeg, Blom [ 17 ], adjusted for the three-month cycle lengths.…”

Strengthening health systems for access to gene therapy in rare genetic disorders

“…A particularly cost-effective method for preventing delays in diagnosis for some genetic conditions is newborn screening (NBS). 7 Recent studies have shown that inclusion of NBS, coupled with early intervention, is cost effective in comparison to current diagnostic and treatment practices for some diseases. 7 Greater investment in infrastructure for NBS could reduce the burden on patients and health systems and facilitate timely access to interventions.…”

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective

“…Lastly, while newly available treatments and those under development for rare diseases are highly lauded, the cost to families and the healthcare system may preclude their widespread availability for all who need them. Although the cost of gene-targeted therapies for SMA, for example, is very expensive, thus far, differential access to this lifesaving treatment has not appeared to produce inequities, and cost-effectiveness is relatively high (Shih et al, 2022). Monitoring for such issues is necessary.…”