GENOMICS


Genomic sequence, variant and expression


Digital socio-environment health factors


ECOSYSTEM


CLASSIFICATION PROJECT HPO Data Type and Aggregation Privacy & Security Measures Datasets and Technologies


Evaluations & Metrics [Figure 4] SECURITY MEASURES Encryption TLS/SSL Differential Privacy Secure Aggregation Byzantine Robustness Poisoning Detection


International HPO Transformation


FEDERATED LEARNING CLASSIFICATION HUMAN PHENOTYPE ONTOLOGY DOMAIN


Citizen Identification for HPO


HPO Pre-eXam: single cell predictor HPO Pre-eXam: germline predictor HPO eXam: precise intercepts


POPULATION HEALTH MANAGEMENT FEDERATED


LEARNING LIFECYCLE Intra-national HPO Transformation National HPO roadmap Fig 2. Population health management, the HPO transformation with privacy in federated learning.


Ten tables from the ‘PHM – HPO Transformation’ paper support this article to illustrate key concepts, metrics, and roadmaps for HPO transformation. Full content is available in the complete manuscript.2 The 10-Year Health Plan envisions a radical shift to an Integrated Care Ecosystem for proactive, preventative and personalised wellbeing using science data and AI technology.1


This article aims to


define the comprehensive PHM of HPO as a blueprint for operationalising the ambitions of England’s Fit for the Future: 10 Year Health Plan.1-3


A strategic blueprint for HPO infrastructure


Developing this PHM blueprint synthesises scientific literature, technology capabilities, and policy analysis with best practices in digital transformation, genomics, social determinants, images and AI application to build a cohesive and implementable HPO ecosystem.1-3 The methodology involved several key steps: n Policy analysis: Detailed examination of the UK’s Fit for the Future: 10 Year Health Plan to identify its objectives


and technological imperatives.1


n Technological landscape assessment: Review federated learning,4 computing,5


and generative AI,6 genomics, and data science.


n Ontology integration: Conceptualising HPO, a structured vocabulary for pathology, primarily of genomic origin, as the central unifying layer for diverse health data.7


n Translational pathway development: Designing practical, actionable pathways, bridging policy goals with technological and clinical implementations.2


n Ethical and governance integration: Embedding data privacy, security, equity, and public trust principles as foundational infrastructure elements.1-6


n Road mapping and metric tables: Developing a phased roadmap with activities and outcomes, alongside metrics for progress tracking and value demonstration.2


This manuscript, part of the PHM series, offers a roadmap for achieving the 10 Year Health Plan by addressing the HPO’s ‘how-to’ in a national PHM ecosystem proposition.1-3


quantum with


Proactive and preventive healthcare through genomic pre-eXams The 10-Year Health Plan’s fundamental shift to proactive and preventive care aims for longer, healthier lives while a genomics pre-eXam method will support the ambition for the newborn Generation Study8


routine preventive care.9


and large-scale adult studies as The systematic


deployment of DNA and epigenetic risk stratification with pan-genome assessments is an early identification of disease predispositions for target interventions before disease onset, reducing the burden of rare and chronic diseases.10


The work details newborn


screens for rare diseases and polygenic risk scores for non-communicable diseases, including global studies on personalised prevention for systematic deployment nationwide.8-10


Figure


1 illustrates the ‘Genome Pre-eXam predictors and eXam Intercepts’ as operational HPO policy transformation from newborn to adults as the primary care in an AI ecosystem that considers public perspectives while resourcing tools.11-13 Figure 1 illustrates the central role of a HPO Policy Transformation as primary care linking traditional diagnostics (box A) with digital genomics (box B). It shows the stewardship of HIMSS development26


and


The true power of genomic medicine and the HPO (primarily of genomic origin) lies in synergistic analysis of data points


54


HEMSS adoption, depicting how HPO enables preventive health from a primary care perspective, supporting the plan’s shift to proactive care with the AI Digital Regulation Service (AIDRS),14 Resource (AIRR),15


and AI Security AUGUST 2025 WWW.PATHOLOGYINPRACTICE.COM National HPO Stewardship


FEDERATED LEARNING Flower


Tensor Flow Federated PySyft


Federated AI Tech Enabler Open FL


AGGEGATION STRATEGIES Stochastic Gradient Descent Federated Averaging Federated Optimisation


Digital medical and pathology images


Clinical trials: Genomic, factors and images


AI Research


© copyright James Henry


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