Cost-Effective SMA Screening Advocated for Newborns

A newborn screening test has been proposed as a cost-effective approach to utilizing expensive medications for Spinal Muscular Atrophy (SMA), with clinical experts highlighting the potential for better outcomes through early diagnosis and pre-symptomatic treatment in newborns.

SMA is a progressive disease that leads to irreversible muscle and nerve damage. For Type 1 SMA, motor neuron degeneration begins before birth, with over 95% of damage occurring by six months and more than 90% of patients not surviving past two years. Early diagnosis and intervention are therefore crucial to enhancing survival rates and treatment efficacy.

Currently, public awareness of SMA symptoms is low, often resulting in delayed medical attention and advanced disease stages upon diagnosis. In South Korea, three SMA treatments—Zolgensma (Onasemnogene Abeparvovec), Spinraza (nusinersen sodium), and Evrysdi (risdiplam)—are covered by insurance, though costs remain high. Zolgensma costs approximately $1.47 million per dose, while Spinraza requires six doses in the first year, followed by three annually at around $70,000 per year. Evrysdi costs around $300,000 annually, with insurance-covered patients incurring a maximum out-of-pocket cost of $7,800 per year.

During a Novartis media session on October 4, Professor Ha-Neul Lee of Yongin Severance Hospital emphasized the need for newborn screening for SMA. He explained, "SMA is a disease that progresses from birth until death. While treatment options are available, it takes up to six months to detect symptoms, consult a pediatrician, and reach a hospital, with another one to 1.5 months for testing and treatment approval." He stressed that newborn screening could reduce this timeframe, enabling the more effective use of high-cost medications.

Professor Jung-Ho Lee from Soonchunhyang University Hospital echoed the benefits of newborn screening, stating it enhances patient quality of life and reduces socio-economic costs. He noted that several countries, including Belgium, the United Kingdom, and Japan, have adopted SMA screening due to its economic viability. Belgium, for example, saw a 75% reduction in SMA-related costs, while the UK projects annual savings of $81.7 million and gains of 529 Quality-Adjusted Life Years (QALY).

The SMN1 screening test for SMA is estimated to cost around $37 to $52 per screening, with a projected annual financial impact of $8.5 to $12 million based on birth rates. Professor Jung-Ho Lee emphasized, "SMA is a fast-progressing neurodegenerative condition, and early intervention is essential. Newborn screening should include treatable diseases where early intervention yields maximum benefit."