21 Dec 2022
by Alessandro Riccombeni

All Fed Everything: The Journey from Genomics to Precision Public Health

Guest blog by Alessandro Riccombeni, National Genomics Officer, Microsoft. 

This month, the UK government published its 2022-2025 implementation plan for the Genome UK 2030 strategy, outlining the key steps towards reaching the midway point of its genomic medicine roadmap. This ambitious vision is supported by a variety of initiatives, including increasing diversity in genomic data assets, integrating imaging and omics data for new diagnostics applications, and leveraging industry partnerships for a renewed focus on Functional Genomics.

Two initiatives in particular are poised to change the world for the long term, bringing different dimensions of a paradigm shift – the start of a journey from Genomics to Precision Public Health.

Nature + Nurture = Precision Public Health

The concept of Precision Public Health has been around for a long time, and has seen an increase in popularity in the last few years – it’s not a coincidence, as its first use cases came from Epidemiology. To tackle public health challenges combining diverse data sources, beyond clinical data, has long been part of researchers’ toolkit. The availability of population scale datasets has always been a key factor: no other country has more experience in this domain than the UK. The NHS’ initiative to sequence newborn genomes is going to write “population scale research infrastructure” deep into the DNA of our country’s public sector strategy.

Newborns are the first step in turning access to whole genome sequencing into part of an NHS patient’s standard experience: imagine a future where a citizen’s genetic blueprint becomes available shortly after birth, ready to leverage the latest diagnostic tests for genetic and inherited disorders, predictive algorithms, and risk models. In the context of “nature vs. nurture”, the newborn sequencing initiative will prepare the UK for a world where information on our “nature” becomes available the moment we are first held by a parent.

As our access to “nature” becomes the new standard, we can turn our full attention to “nurture”.

What can change the nurture of a man?

Financial data, administrative data, mobile apps, consumer behaviour: to capture the variety and breadth of non-clinical data available for each patient, the foundation of Precision Public Health must come from population scale infrastructure. Federation is key to connecting data sources and researchers throughout the UK, across academia, the NHS, and public and private sector. DARE UK is one of the organisations leading the UK community in understanding the challenges involved in federating research infrastructure, with its mission to “design and deliver a novel and innovative data research infrastructure for the UK, with a specific focus on supporting cross-domain linkage and analysis of sensitive data”.

As more, diverse data sources become available, the interplay between a patient’s biology and its environment will be fertile soil for novel, data-driven population health studies. Socioeconomic background, location, nutrition and habits will come to the forefront of creating a holistic view of a patient’s wellness, raising questions about what changes must occur in patient’s “environment” to support better clinical outcomes.

The Journey there

The last decade has seen precision medicine datasets, technologies and experts come together to create a data-driven ecosystem for research and innovation – an ecosystem which is growing beyond initiatives like Genomics England or UK Biobank, bringing security, scale and tools for collaborative data sharing to every part of NHS England, starting from the 11 announced subnational Secure Data Environments. In just a few years, the most basic industry requirement – population scale, secure and clinically compliant research infrastructure – has become a default necessity for public sector. Another essential initiative is already making this possible: Our Future Health, with its cohort of five million volunteers, has started its mission already looking at 10% of the UK adult population, an unprecedented scale for any country, worldwide. OFH’s learnings and experiences in population scale research infrastructure represent a true asset for the UK community’s efforts, leading by example across NHS, academia, and industry.

With genomes turning into assets throughout each patient’s life, and OFH delivering a real example of population scale trusted infrastructure, the future of Precision Public Health doesn’t look so far away. As focus shifts from “nature” to “nurture”, envisioning the world of 2023 becomes only more exciting: discovery awaits.


 

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Authors

Alessandro Riccombeni

Alessandro Riccombeni

National Genomics Officer, Microsoft UK