What UK Biobank Data Tells Us About the Future of Pharmacogenomics

What Does Mass DNA Collection Mean for PGx Testing 

In June, the AttoDiagnostics team attended the UK Pharmacogenetic & Stratified Medicine Network’s 12th Annual Open Meeting in London—an event that brought together researchers, clinicians, NHS leaders and key stakeholders to explore the expanding role of genetics in patient care.

One of the most striking themes of the day was how UK Biobank data is helping to validate pharmacogenomics (PGx) at population scale — with published studies, policy-shaping insights, and direct relevance to everyday prescribing.

99% Carry a PGx-Actionable Variant. What Next?

Over 99% of UK Biobank participants carry at least one pharmacogenomic variant predicted to alter drug response — based on 14 actionable genes identified by CPIC.

According to data presented by UK Biobank, 99.5% of individuals carry at least one genetic variant that could affect their response to a commonly prescribed drug. Nearly a quarter of participants were already taking such medications. These are not niche cases — they’re mainstream patients on:

• Ibuprofen (CYP2C9 variants can influence NSAID response)

• Statins (e.g. simvastatin via SLCO1B1)

• SSRIs (e.g. sertraline via CYP2C19)

• Clopidogrel (via CYP2C19 LoF alleles)

• Codeine and Tramadol (via CYP2D6 metabolism status)

Nearly one in four participants had been prescribed a drug for which they may have an atypical genetic response — with ibuprofen, simvastatin, and omeprazole among the most common.

From Theory to Real-World Evidence

UK Biobank isn’t just running simulations. It’s delivering peer-reviewed insights that help us understand drug outcomes in the real world. Some recent examples include:

In particular, we find the research of Bedair & Smith et al 2024 especially compelling. Their analysis of CYP2C19 variation and clopidogrel response in UK Biobank participants highlights a clear and clinically meaningful application of pharmacogenomics: predicting major adverse cardiovascular events (MACE).

They found that individuals with a loss-of-function allele had a 9.4% higher risk of MACE, but 15% lower risk of bleeding—a trade-off that illustrates the importance of personalised prescribing. This research directly aligns with NICE Diagnostic Guidance DG59 (published July 2024), which now recommends CYP2C19 testing to guide clopidogrel therapy after stroke or TIA , and is being piloted by NHS England in stroke services. It’s this kind of evidence-backed precision medicine that AttoDiagnostics  has prioritised to support improving patient outcomes.

Why UK Biobank Matters for PGx

UK Biobank stands apart in the PGx field for several reasons:

• Depth: Genotyping + exome + whole genome sequencing across 500,000 participants

• Breadth: Lifetime health record linkage, including primary care, prescriptions, and hospitalisations

• Diversity: Ongoing efforts to recruit underrepresented groups

• Accessibility: Secure, researcher-friendly Trusted Research Environment with published methods

• Track Record: Hundreds of gene-drug interaction papers published

 

While Our Future Health is on track to be the largest UK health study by participant volume, and Genomics England is most tightly embedded in NHS rare disease and cancer diagnostics, UK Biobank remains the gold standard for PGx discovery and validation.

UK Biobank charges £9,000 for 3-year researcher access, with additional costs for large-scale projects. While this supports infrastructure and governance, it can pose a barrier to smaller teams or underfunded institutions — a factor worth considering in discussions around equity and open data.
 

AttoDiagnostics: Making PGx Actionable

At AttoDiagnostics, we bridge this research with real-world clinical decision support. Our PGx panels are based on the same evidence base that UK Biobank is helping to validate — with results tailored to:

• Improve prescribing for oncology, mental health, pain management, cardiovascular, GI conditions etc.

• Identify patients at risk of adverse drug reaction and/or therapeutic failure

• Support personalised medicine in the NHS and private specialist healthcare sectors alike

As more studies emerge, we’ll continue to evolve our portfolio of genetic markers covered and reporting algorithm thereby ensuring patients and service users receive genetically appropriate treatments based on the best available clinical research evidence.

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