10-Year Health Plan: human phenotype ontology transformation

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 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 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