GENOMICS


a cohesive, intelligent, and ethical healthcare ecosystem operationalised via genomics champions and Biological Pre- Post eXams. At the core of this transformation is the development and adoption of a human phenotype ontology (HPO), which serves as a standardised, evolving language for describing individual biological profiles. Figure 1 illustrates this strategic progression, depicting how the three technical phases, the Pre-eXam, the eXams, and the Post-eXams, converge to inform and empower the public as the primary stakeholders. This article focuses on a critical, often underrepresented component of this future ecosystem the ‘Ethical People Ontology Plan’ proposition. It argues that technological innovation alone is insufficient; true reform requires a robust, ethical, and inclusive plan that cultivates a society and workforce capable of comprehending the stewardship of this new era of genomic medicine1


and life sciences2 year NHS Plan.3 in a 10- The People Plan when


amended for ontology ethics, provides the moral backbone, ensuring that the PHM ecosystem delivers equitable and sustainable benefits for all.4 This ecosystemic approach through a People Ontology plan is a deliberate move towards integrating science and technology with societal values, under the critical stewardship of Higher Expert Medical Science Safety (HEMSS) and Healthcare Informatics Management System Society arrangements (HIMSS) in Table 1.


The Pre-eXam phase The journey towards an Ethical People Ontology Plan begins with the genomic predictive health Pre-eXam. This phase, driven by the Genomic Medical Service (GMS) Draft Specifications (Genomics England Plan),1


embeds genomics into


routine care, offering earlier diagnosis, prevention, and personalised treatment. Initiatives like the Generation Study in


Stakeholder engagements


Public


engagement Healthcare


provider


Societal benefits


Early detection; personalised risk assessment; preventative health


Enhanced diagnostic capabilities; proactive patient management


Biobank and cloud Rich data for research; scalable data hybrid servers


Governance and (life science)


storage for routine practice Evidence-based policy;


federated platform equitable resource allocation Biopharma


New drug targets; accelerated R&D; market differentiations


Table 2. Benefits and considerations of genomic Pre-eXams. WWW.PATHOLOGYINPRACTICE.COM SEPTEMBER 2025


Healthcare Informatics Management System Society [voluntary]


HIMSS Levels 0-7


Infrastructure readiness and adoption Application of AI in medicine and radiology Continuity of care adoption model Population health domains


Higher Expert Medical Science Safety [Stewards X in classifications]


Higher: Hybrid infrastructure Pre-eXam and eXams Expert: Agile groups develop classifications


Medical: Practitioner engagement adopts classifiers Science: Multi-omics, images and health factors Safety: Public health, patient safety and parity


Table 1. HIMSS developers and HEMSS adopters of population health reforms


our future health establish a lifelong genomic health trajectory, positioning the UK as a leader in translating research into clinical care.1,5


The Pre-eXam, as a


population health genomic prediction tool (Fig 1), is powered by Generative AI that operationalises advanced insights for public health and social care. The ethical dimensions of this phase


are paramount. The use of whole genome sequencing (WGS) and polygenic risk scores (PRS) are the tip of a multi-omics and intron iceberg for conditions like cardiovascular disease and breast cancer that raises critical questions about data privacy, informed consent, and the potential for target therapy without genetic discrimination.1,6-7


To address


this, the ecosystem relies on a federated genomics learning platform, which also analyses real-world data without centralising it, thereby enhancing privacy and security.8


This technical safeguard,


combined with the ethical oversight of the People Plan, builds the foundation for public trust.4


The transparency of


explainable generative AI (XAI) is also crucial, providing interpretable and auditable insights that empower both practitioners and the public to understand the basis of a genomic prediction pathway commission.6,9 Furthermore, the Pre-eXam’s focus


on proactive risk identification is a key driver of population health benefits. By identifying high-risk individuals within communities, it enables WGS and PRS early with targeted interventions that


Consideration remedy


Privacy, discrimination


Federated platform, ethics framework Data overload, workforce gaps


Expert ecosystem team, People Plan Secure data share interoperability


Federated platform and steward data Regulatory adaption, standards


AIDRS and HIMSS stewards


High cost and small populations GMS, MHRA, and HEMSS stewards


.


can mitigate health inequalities and improve outcomes.10,11


The ethical


challenge is to ensure equitable access and to avoid a ‘diagnostic odyssey’ for underserved populations.1


This is a core


tenet of the Ethical People Ontology Plan, which mandates that the benefits of genomic insights are democratised and not confined to specific demographics or socioeconomic groups.4,7,10-11


The


genomic predictive health benefits and considerations with remedies are shown in Table 2.


The eXam phase The eXam phase represents the critical juncture where the predictive intelligence from the Pre-eXam is translated into precise, personalised interventions.1-2 Aligned with the Life Science Sector Plan,2


this phase focuses on ‘Phenotype


Ontology Target Care Precisely’ (Fig 1) by commissioning agentic AI to refine biological models for specific therapeutic needs. This phase enables the development of personalised therapeutics and digital twins, which can simulate the effects of different treatments on an individual’s unique HPO, reducing lifetime complications as a public health and patient safety initiative.12 Ethical considerations in the eXam


phase revolve around access parity and the cost of innovative therapies.2


The


Life Science Plan’s aim to make the UK a hub for life science innovation must be balanced with the public health mandate of the proposed People Ontology Plan, ensuring that cutting-edge therapies are accessible and affordable for all.2,4


A


tiered regulatory approach, balancing rapid risk-proportionate processing by the MHRA with robust NICE [AIDRS] commissioning, is essential for a low- friction procurement environment that can scale these innovations nationally.2,3-14 The Ethical People Ontology Plan’s


role here is for societal comprehension of the stewarding of fair and ethical access policies, addressing the potential for high costs and small populations to create a divide in care.4


Public engagement is


vital, as Table 3 highlights, ensuring that targeted therapies, improved outcomes, and reduced adverse events are delivered


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