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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 genomic medicine program with Congenica at the heart of both. Congenica has enabled Genomics England to achieve a 50% increase in diagnostic yield and a 95% reduction in data interpretation times at an unprecedented scale of 2,700 whole genomes per week.

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Congenica's impact, story 1

Clinical impact

Optimizing care for patients

An accurate diagnosis has an immediate impact on a patient’s care. Congenica enables 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

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Congenica's impact, story 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.

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Congenica's impact, story 3

Clinical impact

Delivering quicker, cost-effective care

By helping clinicians to provide rapid and accurate diagnosis, Congenica eliminates the need for further tests and assessments. These tests can be costly, time-consuming and invasive. Removing the need for them helps to reduce the cost of care for the healthcare provider and eases the emotional burden for the patient and their family.3

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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 a diagnosis to enable more meaningful dialogue between healthcare providers and their patients.

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  1. Internal Congenica data. A case study of Whole Exome Trio Analysis with Congenica’s Clinical Decision Support Platform;
  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.
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