How Congenica's Clinical Interpretation Services helped nearly 900 families receive timely genomic analysis, and what a six-year partnership tells us about the future of clinical genomics.
"Working with the team at Congenica has always been a pleasure. The collaborations we achieved over the past six years have been entirely positive for the local clinical teams and, most importantly, hugely benefited outcomes for patients. This has been especially true during some challenging times when their support has been indispensable."
St George's Hospital Clinical Genetics Team
A partnership built over years
St George's Hospital (SGH) in London and Congenica first began working together in clinical genetics in 2019, co-designing a sample-to-report service built around the specific needs of the hospital's clinical team. That service brought prenatal and postnatal genomic analysis to families who would otherwise have had no testing available on the NHS.
Over three years, it delivered results for almost 900 families. Importantly, it established something harder to measure: a shared way of working, a mutual understanding of clinical standards, and the kind of trust that only forms when two teams solve real problems together.
That foundation would prove essential when the pressure arrived.
When demand outpaced capacity
The NHS Genomic Medicine Service (GMS) is one of the most ambitious publicly funded genomics programmes in the world, giving eligible patients access to diagnostic whole genome sequencing for suspected rare germline disease. Its success, however, has brought its own challenges. As eligibility has expanded and referral volumes have grown, the laboratories responsible for delivery have come under considerable strain.
At St George's, a sharp increase in test requests created a genuine operational challenge. Whole genome sequencing cases demand significant scientific effort, particularly the review of structural variants , at times the most analytically demanding variants to assess. With patient outcomes directly at stake, the team needed to find a way to maintain clinically meaningful turnaround times without compromising the quality of its reporting.
Patients were waiting. The problem was clear. So was the solution.
A solution designed together
SGH turned to Congenica's Clinical Interpretation Services for a targeted, co-designed intervention shaped around the lab's own workflows and clinical standards.
Between 2023 and 2024, Congenica's Clinical Interpretation team performed a first-check review of SNVs and indels for 889 families, returning preliminary results to the SGH team for second check, reporting, and clinical sign-out.
The approach was deliberately focused. By concentrating on first-pass review, Congenica's team helped surface straightforward cases, those with no diagnosis identified, allowing SGH's clinical scientists to direct their expertise where it mattered most: the complex referrals that required deep clinical judgement.
The goal was to give a highly skilled team the breathing space to do their best work.
Why it worked: trust, integration, and clinical rigour
Scaling clinical genomics interpretation is more than a resourcing problem. The quality bar is absolute. Every member of Congenica's Clinical Interpretation team is professionally regulated by the HCPC and experienced in working with both the ACMG interpretation framework and the UK ACGS guidance followed by the SGH lab.
Just as critically, Congenica's analysis platform is deeply integrated with GMS infrastructure. That meant the team could access cases already processed and ready for review, working entirely within existing UK-based systems. No data needed to move. No additional information governance risk was introduced. All analysis was performed in situ, within the UK.
From day one, the team operated within SGH's own workflows, accessing GMS-specific annotations including Tiering data to replicate the lab's internal processes with precision. With years of experience in WES and WGS at scale, the service required minimal setup or intervention from the SGH side.
For clinical leaders weighing whether to bring in external support, this is the difference that matters: Congenica's Clinical Interpretation Services didn't need to be taught how to work within the system. They had helped build it.
The result: patients first, even under pressure
The collaboration gave St George's the capacity it needed at a critical moment by extending the reach of a team that refused to compromise on quality.
Nearly 900 families received more timely genomic analysis through the support provided by the Congenica team and clinical turnaround times were prevented from lengthening further. The SGH team retained full oversight and sign-out authority throughout, exactly as it should be.
Deep Heritage, Deep Tech. A New Force in Clinical Genomics.
In 2025, Congenica was acquired by SeqOne, bringing together two organisations with deep roots in clinical genomics and a shared commitment to making diagnostic genomics more accessible, more scalable, and more impactful.
Congenica's Clinical Interpretation Services, the same team that supported St George's, now operates within a larger, well-funded organisation with the infrastructure, technology, and ambition to serve clinical genomics programmes at scale for years to come.
The approach remains the same: partnerships built on trust, regulated solutions co-designed with clinical teams, and an unwavering focus on patient outcomes. The firepower behind it has grown.
For NHS laboratories, genomics centres, and health systems navigating the tension between growing demand and finite capacity, the message is simple: you don't have to do this alone, and you don't have to compromise to get help.
To explore how Congenica's Clinical Interpretation Services, now part of SeqOne, can support your laboratory's genomic medicine programme, get in touch at www.congenica.com
