Genomic screening: proving value beyond early diagnosis

Amelia Jones | 28/07/2026

The key message: earlier diagnosis alone may not be enough to justify widespread adoption.

Charlotte Fleming, Market Access Consultant at HEOR, attended the Genomics England Research Summit 2026. This is the second blog in a three-part series exploring what the summit revealed about the future of genomics-enabled healthcare and what it means for evidence generation and market access.

Two sessions focused on the potential of genomic screening to identify disease and risk before symptoms appear. Emerging results from the Generation Study showed how newborn genome sequencing is already enabling earlier diagnosis of rare genetic conditions. Meanwhile, research into polygenic risk scores (PRS) demonstrated the ability to identify individuals at increased risk of common diseases such as coronary artery disease, prostate cancer and colorectal cancer. 

The opportunity is clear: genomic screening may enable earlier intervention and more personalised care. 

However, the summit also raised a critical question. Does earlier identification consistently improve outcomes? 

Evidence presented during the PRS session highlighted that awareness of increased risk does not always lead to behavioural change. Similarly, while earlier diagnosis may create opportunities for intervention, its value depends on whether those interventions ultimately improve outcomes for patients. 

For healthcare systems considering future adoption, technical performance alone will not be sufficient. Decision-makers will need evidence that genomic screening provides clinical utility, represents an effective use of resources and can be integrated into routine care pathways. 

For industry, this reinforces the importance of generating evidence that goes beyond diagnostic accuracy and demonstrates real-world impact.

Bottom line: the success of genomic screening will depend not only on what it can detect, but on whether acting on that information delivers meaningful value. 

More insights

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