The Severe Presentation of Infectious and Immune Diseases (SPIID) GNoE brings together work on severe infectious disease and functional immunogenomics to support more integrated care pathways for patients presenting with severe infection, immune dysregulation or suspected inborn errors of immunity.
The programme aims to accelerate diagnosis of both the infecting pathogen and the patient’s immune response, enabling more precise acute care, earlier targeted treatment, and improved prevention for patients with underlying immune susceptibility.
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The GNoE will build on the previous Severe Presentation of Infectious Disease GNoE, expanding metagenomic sequencing and host response profiling across all seven GMS. The programme is led by Central and South GMS and North Thames GMS, with North Thames also leading the functional immunogenomics work hosted by Great Ormond Street Hospital.
The programme is structured across three work packages:
Work Package 1 – Metagenomics Technology & Pipeline Innovation
Led by Judith Breuer through the North Thames Genomic Medicine Service, Work Package 1 will build on and enhance existing metagenomic sequencing technologies to improve the rapid diagnosis of severe infections, including sepsis, central nervous system infections and emerging pathogens. The programme will develop accredited, same-day testing with sensitivity comparable to current diagnostic methods, while also enabling antimicrobial resistance detection, transmission analysis and wider clinical adoption across acute care settings. Through advances in laboratory workflows and bioinformatics, the work aims to deliver faster, more comprehensive infectious disease diagnostics for NHS patients.
Work Package 2 – Omic diagnostics
Led by Julian Knight through the Central and South Genomic Medicine Service, Work Package 2 will evaluate genomic and multi-omic approaches to better understand the body’s response to infection. The programme will identify and validate host-response biomarkers that can support diagnosis, risk stratification and personalised treatment decisions. It will also explore the integration of host-response and pathogen detection data from a single sample, providing clinicians with a more complete understanding of infection and supporting a precision medicine approach to patient care.
Work Package 3 – Functional Immunogenomics
Led by Vanessa Sancho Shimizu through the North Thames Genomic Medicine Service, Work Package 3 will improve diagnostic outcomes for patients with suspected inborn errors of immunity where routine genomic testing has not identified a cause. By combining genomic reanalysis, immunological phenotyping, multi-omic testing and functional validation, the programme aims to increase diagnostic yield, enable earlier diagnosis and support more personalised treatment, prevention and genetic counselling. It will also help establish a sustainable national capability for functional immunogenomics within the NHS.
Cross-cutting themes will support the integration of pathogen detection, host-response diagnostics and immune susceptibility testing into a coordinated NHS pathway. This includes shared data and analytics approaches, multidisciplinary review, health economic evaluation, inclusivity and patient involvement, workforce development, and activities to support future commissioning and sustainable national implementation. Together, these themes will help ensure that innovations developed through the Network of Excellence can be successfully adopted into routine NHS care.
By combining microbiology, immunology, genomics, paediatrics and acute medicine, this GNoE will support faster and more precise diagnosis for patients with severe infectious and immune presentations, while generating the evidence needed for wider adoption across the GMS.
Leading GMS: Central and South Genomics and North Thames Genomic Medicine Service
Partnering GMS: North Thames Genomic Medicine Service and North East and Yorkshire Genomic Medicine Service