Abstract
Genetic diseases are one of the leading causes of death and disability in critically ill patients requiring hospitalization or intensive care. Standard diagnostic tests may not be able to differentiate the disease, or the diagnosis may take a long time. Most of the patients, the majority of whom are children, die or are disabled as a result of this. Rapid Next Generation Sequencing (rNGS) technologies, such as rapid Whole Exome Sequencing (rWES), can be used to help diagnose genetic diseases in critically ill patient with unknown etiology. However, the cost of rWES technology is high. Therefore, its cost-effectiveness should be assessed in the Thai context. Objective: To determine cost-utility and budget impact of rWES compared with standard methods, and to determine the practically feasibility of rWES technology coverage in the benefit package of the universal health insurance system. Methods: This economic evaluation study compared rWES to standard methods for diagnosing critically ill patients with unknown etiology in a societal perspective. A decision tree and a Markov model were developed to determine patients' life time costs and quality adjusted life years (QALYs). The model variables obtained from literature reviews, medical record reviews, and a sub-study. The uncertainty of variables was analyzed by one-way sensitivity analysis and probabilistic sensitivity analysis. Results: Diagnostic testing with rWES was cost saving compared to standard methods. The incremental cost-effectiveness ratio (ICER) value was negative with lower in total costs and more in QALYs. The probability of death in a neonate was the most sensitive variable to the analysis result. Conclusion and discussion: The rWES technology was cost-saving, but the results were sensitive. As a result, rWES should be included in the benefit package at the outset and should be studied further to gather more information before evaluating in the future.
