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GENOMICS


10-Year Health Plan: human phenotype ontology transformation


James Henry continues his series on the population health management of human phenotype ontology, examining how the concept can aid the implementation of the recently published NHS 10 Year Plan.


This article presents a comprehensive 10-year plan for the population health management (PHM) of human phenotype ontology (HPO), positioning it as a blueprint for operationalising the UK’s Fit for the future: 10 Year Health Plan for England.1


Addressing


the national need for preventive, personalised, and efficient healthcare, it details how a robust


ecosystem, integrated with advanced AI and genomic insights, provides a mechanism for health transformation.


The article outlines strategies for


proactive, predictive and diagnostic genomic pre-eXams, precision medicine delivery eXams, and essential standardisation with ethical governance. By presenting a detailed roadmap


AIMS


Robust structure Agile development Seamless monitoring


Micro Omics


In a Standard Approach


Box A Traditional Diagnostics Lab, Point of care, physiology, image


Upstream Intelligence


Stream and Learn Box C


The PHM of HPO PIMARY CARE


POPULATION HEALTH MANAGEMENT


HPO POLICY TRANSFORMATION AS THE PRIMARY CARE


GENOME PRE-EXAM AND EXAM INTERCEPTS


CLASSIFICATIONS [SECTION B]


VOLUNTARY: HIMSS DEVELOPMENT Healthcare Information and Management System Society


STEWARDSHIP: HEMSS ADOPTION Higher Expert Medical Science Safety [HEMSS]


Fig 1. Population health management, the HPO transformation from traditional diagnostics. WWW.PATHOLOGYINPRACTICE.COM AUGUST 2025 53


and emphasising rigorous adherence to international standards, Healthcare Informatic Management System Society (HIMSS) levels and Higher Expert Medical Science Safety (HEMSS) principles, this work demonstrates how HPO may be stewarded as the foundational scientific language and technological enabler to achieve the national health strategy, cultivating a healthier, more equitable future.


This article compliments NHS England Genomics and builds on the second of six manuscripts for national PHM through partnerships.3


The ‘PHM –


HPO Transformation’ manuscript is accepted for publication in the Frontiers Journal of AI in Medicine and Public Health, whilst this article is the third featured in Pathology in Practice.2


AIMS


Biological risk stratification Evaluate HPO disease & Action PHM Stewardship


Macro


Environment DHSC, DSIT AIRR, AISI AIDRS


Box B = Digital Genomics Ontology Predictive Pre-eXams Biopharma Precision eXams


Workspace Insight


© copyright James Henry


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