OBJECTIVES: To evaluate the budget impact of a protocol with NGS-Ion Torrent™ equipment in substitution to one with traditional single-gene protocol (SGP) in two musculoskeletal rare diseases i.e. Osteogenesis Imperfecta (OI) and Hereditary Multiple Exostoses (HME) from the budget holder perspective.

METHODS: For each pathology, the analysis is accomplished on 200 individuals with clinical suspect or family history referring to the IOR clinic in Bologna-Italy. A Budget Impact model was performed considering the National Health Service perspective. The analysis applied the typical Activity Based Costing (ABC) methods in order to identify the cost drivers associated with each type of sequencing analysed. Variables studied include “materials”, “personnel”, “sequencing devices” costs. Sensitivity analysis (SA) is conducted to measure the impact on costs of the variation of the “working time” of personnel. Further, an annual scenario analysis is built on the results.

RESULTS: NGS, instead of SGP, decreases sequencing materials costs by €592 per single OI patient, and by €70 per single HME patient. When measuring the costs of personnel NGS offers a saving of €77 per single patient for OI and €4 for HME. Overall, the per-patient overall saving is €722 for OI and €85 for HME. Considering an annual incoming of 50 patients the saving due to the sequencing devices is €2.804 for OI and €612 for HME. The overall introducing NGS protocol produces a saving of € 37.565 for OI and € 4.441 for HME on the budget with respect to SGP protocol. SA confirms that in 100% of the simulations, adopting NGS offers significant savings in terms of costs and minutes, with homogeneous results for both protocols.

CONCLUSIONS: The economic analysis has shown that the strategy based on NGS allows to reduce costs, especially those related to the materials consumed.