Microcosting of whole genome sequencing in the diagnosis of inborn errors of immunity: a research protocol

Inborn errors of immunity (IEI) constitute a group of rare genetic disorders marked predominantly by functional abnormalities of the immune system, which result in heightened susceptibility to recurrent infections, autoimmune manifestations, and malignancies. In recent years, diagnostic capabilities for IEI have expanded substantially with the advancement of genomic technologies, particularly whole‑genome sequencing (WGS). Despite these developments, WGS remains a complex and high‑cost technology, with its use still largely restricted to research settings. In Brazil, the uptake of this examination is notably limited, and it is not currently reimbursed by either the public healthcare system or the supplementary health sector. This research protocol seeks to systematize the structural and methodological components required for conducting a comprehensive microcosting study of whole‑genome sequencing (WGS) in the diagnosis of inborn errors of immunity, from the perspective of an institutional provider within the Brazilian public health system. By generating detailed estimates of resource utilization and unit costs associated with each component of the testing process, as well as calculating the total cost per sample, the findings of this study will support future economic evaluations and health technology assessments. These results may subsequently inform policymaking related to regulatory frameworks and financing mechanisms for the incorporation of WGS into the national healthcare context.