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Genomics in simple terms is the study of the genetic information of an organism or cell, but for those in the medical tech industry, it is a fundamental shift in the very concept of medicine.
Where genetics may examine variations in a single gene to determine the cause of medical conditions, genomics looks at all of the DNA present in a genome, offering a vastly more in depth look at a person’s health.
At one time this was a process that took years and millions of pounds to complete, but today it can be done quickly and cheaply at scale, largely due to the advent of next generation sequencing, backed by technology from firms like SeqOne.
In an exclusive interview with UKTN, SeqOne’s chief executive officer Martin Dubuc discussed the incredible advancements made in genomics over the past two decades, the enormous ramifications this has on public health and how new technologies stand to further transform this vital field.
How significant is the role of genomics technology firms in global medical research?
We are witnessing a fundamental change in the definition of medicine itself. Genomics allows us to practice medicine from the ‘source code’. For centuries, doctors treated symptoms – the “output” of the biological system. Now, we can treat the patient based on their unique biological code.
Take cancer as a prime example. Historically, we treated it with chemotherapy, essentially carpet-bombing the body to kill cancer cells. Today, we sequence the tumour’s DNA. If we find a specific mutation, the clinician can administer a targeted therapy that specifically switches off that mutation.
AI in genomics is often discussed as a future promise, but the reality is that it has been the engine of our field for years.
What has been the most impactful development in your sector in the past decade?
It is undoubtedly the democratization of genome sequencing driven by “Next Generation Sequencing” (NGS) technology and the subsequent collapse of sequencing costs. We have seen a technological leap faster than Moore’s Law. We went from a billion-dollar genome to a sub-$200 genome in less than 20 years.
Ultimately, for a technology to have a massive human impact, it needs to be accessible and usable. NGS has made this possible, allowing the most advanced genomic testing to be available broadly and gradually replacing less advanced diagnostic methods.
However, access to data is not enough; you need the ability to process it. Advances in computation are what make it possible to build advanced prediction models from this information.
How has AI impacted genomics already and how far could it go?
AI in genomics is often discussed as a future promise, but the reality is that it has been the engine of our field for years.
We have long relied on AI-driven prediction scores to assess pathogenicity: essentially using algorithms to estimate the “danger” of specific mutations based on vast historical datasets.
Today, AI has evolved from those specific scores into a comprehensive workflow partner.
Looking forward, the frontier is incredibly inspiring: we are entering the era of Genomic Foundation Models. Just as Large Language Models (LLMs) have mastered human languages, we are seeing models trained on the “code of life.”
These foundation models don’t just look up known data; they understand the syntax of DNA itself. They can predict the clinical impact of a genetic sequence we have never seen before, simply by understanding the biological rules.
Beyond AI, what factors will play a role in the future of the genomics sector?
The future depends on a fundamental shift in mindset: moving from reactive “sick care” to true “healthcare,” which is predictive, precise, and personalised.
This shift relies on two pillars. The first is prevention, best illustrated by Genomic Newborn Screening. Currently, we screen babies for a handful of conditions. Genomics allows us to scan hundreds of genes instantly to find “actionable” diseases.
The second pillar is precision medicine. When disease does occur, we cannot afford to guess.
However, this requires more than just technology; it requires national policy. We need governments to embrace precision diagnostics not as a luxury, but as the backbone of the healthcare continuum – precision medicine is not just better for patients; it is economically superior for the healthcare system in the long run.
How has the UK’s extensive life sciences history impacted SeqOne’s work in the country?
The UK is clearly a world leading nation in genomics. Through the legacy of the 100,000 Genomes Project and the NHS Genomic Medicine Service, the UK established the global playbook for how to apply genomics at a nation-state level and it continues to foster an environment of public-private partnership from pharmaceutical research to having a clear vision and plans for the use of genomic in clinical care.
Our acquisition of Congenica was a strategic move to carry forward the scientific and genomic heritage it represents. Congenica was born out of the Wellcome Sanger Institute, and our decision reflects our appreciation for the UK’s deep expertise in genomics, its advanced customers such as Genomics England, and the talent and ecosystem that support this work.
