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25 March, 2021 - 14:03 By Tony Quested

US influencer partners Congenica in rare disease genomics foray

Sanford Health, a US healthcare delivery system provider, and Cambridge digital health business Congenica have forged a genomics partnership to help patients and families battling hard to diagnose rare diseases.

Congenica, based at the Wellcome Trust Sanger Institute, is recognised as a global leader in the rapid genomic analysis of complex genomic data in rare diseases. 

Globally over 300 million people live with a rare disease and more than 50 per cent of these are children. It can take considerable time and expense between a patient first presenting to their physician and receiving an accurate diagnosis – more than five years on average. 

Congenica’s rapid genomic data analysis software can interpret whole genomes in minutes to help to drive down the turnaround time for getting actionable information for patients to only a matter of weeks. 

As a result of this, parents no longer have to suffer an agonising diagnostic odyssey of repeatedly going to different specialists and patient outcomes can be significantly improved.

Its partner in this venture, Sanford Health, is one of the largest health systems in the United States. Providing an integrated delivery network of healthcare services, Sanford has a particular focus on genomic medicine. 

Sanford will use Congenica’s world leading clinical decision support platform to analyse and interpret patient genomes to provide information used by clinicians in identifying the underlying causes of previously undiagnosed rare diseases. 

Through rapid and accurate diagnosis, the partnership will enable these previously undiagnosed patients to receive the appropriate clinical care and therapy, thereby improving outcomes.

David A. Pearce, President of Innovation, Research and World Clinics for Sanford Health said: “This partnership has the potential to have a transformational impact on clinical outcomes for rare disease patients. 

“We selected Congenica for this project as its platform has the capability of generating rapid and accurate analysis for patients who are currently the hardest to diagnose.

“The scalability of Congenica also offers scope for widespread integration across our network as we make clinical genomics and personalised medicine more accessible.”

Christina Waters, SVP Genomics Insights & Solutions at Congenica added: “Sanford Health is one of the largest and most advanced hospital networks. This partnership further strengthens our position in the US and provides strong validation of our platform. 

“We look forward to working with Sanford as we integrate genomic analysis into clinical practice to provide life-changing answers for rare disease patients and their families.” 

• Congenica and Sanford are jointly hosting a webinar on March 29 in which they will discuss how their collaboration can be expanded into other indications including paediatric epilepsy. Further details and registration instructions can be found at

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