SMA newborn screening in England has health, cost benefits: Analysis
Findings of study in agreement with studies in other countries
The adoption of a newborn screening (NBS) program for spinal muscular atrophy (SMA) in England would reduce healthcare costs and boost the number of healthy years a patient can live, according to a recent cost-effectiveness analysis.
Researchers believe such a program could capture most cases of SMA in the country before symptoms ever emerge, allowing for faster treatment initiation that would lead to life quality and financial gains over patients currently being diagnosed without NBS.
The study overall “strongly supports the inclusion of SMA in the official NBS program in England,” the authors wrote.
The study, “Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England,” was published in Neurology and Therapy. It was funded by Novartis, the company that markets Zolgensma (onasemnogene abeparvovec), an approved gene therapy for SMA.
In most cases of SMA, mutations in the SMN1 gene lead to a lack of functional SMN protein, ultimately driving the degeneration of motor nerve cells.
There are currently three disease-modifying therapies for SMA on the market: Evrysdi (risdiplam), Spinraza (nusinersen), and Zolgensma. Evidence generally suggests that the sooner these treatments are administered, the better they will be able to prevent motor neuron degeneration and disease progression.
Specifically, an ideal start to treatment would be before a person’s symptoms ever emerge, “to achieve as close to a functional cure as possible,” according to the authors.
Typically involving a simple heel prick, NBS programs enable infants to be tested for certain genetic conditions like SMA before they even leave the hospital, allowing for faster treatment.
These programs have been introduced in a number of countries, including the U.S. and several European nations, but there’s still a push for broader adoption.
NBS for SMA has not been adopted in England, where about 62 babies are estimated to be born with the disease each year. Organizations such as the UK SMA Newborn Screening Alliance are urging SMA be included on the country’s existing newborn screening program that’s covered by its publicly funded healthcare system.
If benefits outweigh costs examined
In the study, researchers conducted a cost-effectiveness analysis to estimate whether NBS for SMA would be valuable to the English healthcare system, that is, whether its benefits outweigh its associated costs.
They built their estimation model based on existing data related to births in England, SMA demographics and natural history, typical treatment responses, as well as the estimated costs of NBS and SMA treatment.
Overall, it was estimated NBS would be able to identify 56 infants per year that were at risk for SMA — accounting for about 96% of all SMA patients born in a given year — 46 of whom would likely be asymptomatic at the time of NBS screening, according to the authors.
Estimated lifetime healthcare costs for a group of SMA babies screened with NBS in a given year would be about £160,068,073, or nearly $199 million. That would be a savings of £62,191,531 (nearly $77 million) relative to the estimated £222,259,604 (about $277 million) in lifetime costs for a group of babies for whom NBS is not available.
Quality-adjusted life years also examined
Moreover, NBS was expected to give patients more total quality-adjusted life years (QALYs), or years in perfect health.
Specifically, those in the NBS group in a given year would be estimated to experience 1,140 total QALYs, a gain of 529 years relative to the 611 QALYs expected in the absence of NBS.
Taken together, NBS was considered to be less costly and more effective than a situation without NBS.
Additional analyses led to the estimate that about 80% of children who would undergo NBS — and assumedly early treatment initiation — would be able to sit and walk independently from age 5 onward, compared with 20% of children in a situation like the current one where NBS is not available.
“This difference in motor milestone achievements will lead to a substantially longer and improved quality of life,” the researchers wrote, adding that early treatment due to screening is expected to provide each SMA patient, “on average an additional 32 years at full health when compared with no NBS.”
A drastic reduction in healthcare resource utilization, including hospital admissions, use of breathing equipment, or other healthcare services, also would be expected. That would be estimated to amount to a savings of more than £1,000,000 (around $1.2 million) per SMA patient.
“Therefore, the costs of NBS … are fully offset by the cost savings associated with early identification and treatment,” the team wrote.
These findings are overall in agreement with studies from other countries demonstrating the benefits of NBS for SMA.
The researchers noted, however, that these findings are only estimates, and thus cannot perfectly capture the true cost-effectiveness of NBS in real-world practice.
“More research is needed to identify long-term costs for surviving patients,” the scientists noted.