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Primary Immunodeficiencies (PID’s) are serious immune disorders causing infection, autoimmunity and malignancies.

In the current situation, the diagnostic evaluation of PIDs is performed by extensive laboratory tests, after which three genetic approaches are applied in succession at the very end of immunodeficiency diagnostics: Sanger sequencing, targeted gene panel diagnostics by NGS and whole-exome / genome sequencing (WES, WGS). This tiered approach is lengthy, too expensive, and not efficient.

In the desired situation, Next Generation Sequencing (WGS) is performed as early as possible in the diagnostic process of PID (Genetics First-approach). This allows reduction of the expensive diagnostic phase and timely referall to definitive treatment, which in itself has been shown to facilitate cost reduction and increased survival.

OBJECTIVE: To show that WGS applied early in PID diagnostics leads to reduction of total healt cost (diagnostics, treatment and productivity impairment.)

DESIGN: Comparative study with cost reduction analysis; WGS performed by 3 expert centres; participation of all academic clinical immunology departments in the Netherlands.

POPULATION: 150 newly diagnosed patients with PID (prospective cohort) and 150 historic control patients.

INTERVENTION: WGS early in the diagnostic evaluation of patients with primary immunodeficiencies.

OUTCOME MEASURES: 1. Reduction of diagnostic, therapeutic and productivity impairment costs after implementation of WGS compared to current routine diagnostics for PID; 2. Increase in the number of patients with the correct genetic diagnosis by WGS analysis; 3. Reduction in time to accurate diagnosis through the use of WGS in diagnostic protocol.

EXPECTED COST REDUCTION: 55,000 euros per patient; 8.25M in 150 patients.

TIME SCHEDULE: Inclusion 2016-18, follow-up 2016-2020, data-analysis and publications 2019-2020.

 

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