Case Studies

Partner case study

Delivering results on a national scale

Genomics England has been successful in delivering the groundbreaking 100,000 Genomes Project and establishing the world’s first national health service to offer whole genome sequencing, the UK NHS Genomic Medicine Service.

Congenica software has enabled Genomics England to achieve a 50% increase in diagnostic yield for patients and a 95% reduction in NGS data interpretation times at an unprecedented scale of over 2,700 whole genomes per week.

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Clinical impact

Optimizing care for patients

An accurate diagnosis has an immediate impact on a patient’s care. Congenica will in future enable clinicians to decide the most appropriate treatment path much earlier than the traditional diagnostic route.1 Earlier treatment can lead to better patient outcomes, such as improved quality of life or reduced morbidity.2

Clinical impact

Helping clinicians make informed decisions

Receiving an early diagnosis is a big help for patients and their families. Not having answers to their questions can be a source of great anxiety. A swift diagnosis means the patient and their family can access the support they need to make informed choices about their future, sooner.

Congenica can help researchers gain a greater understanding of, and information on, genetic diseases that may have a clinical impact.

Clinical impact

Working towards delivering quicker, cost-effective care

Reducing a diagnostic odyssey will allow patients to receive timely and appropriate interventions which benefit patients and providers alike. Solving cases faster will improve the likelihood of achieving better health outcomes, reduce the cost of care for healthcare providers and ease emotional burdens for patients and their families.3

Enabling meaningful interactions

With Congenica, multidisciplinary teams and specialists from around the world can work together, benefiting from the latest information and understanding. The software helps you improve the accuracy of your analysis that may enable more meaningful dialogue in clinical practice.

Analyze and interpret genomic data rapidly, reliably and with complete confidence

  1. Internal Congenica data. A case study of Whole Exome Trio Analysis with Congenica’s Clinical Decision Support Platform for research use;
  2. Ellingford JM, et al. Lancet. 2015; 385:1916;
  3. NHS Innovation Accelerator Economic Impact Evaluation Case Study: Sapientia. Available at: Accessed: 28 Feb 2019.