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Accelerating the Identification of Genetic Diseases

August 20, 2020 @ 4:00 pm - 5:00 pm

Cambridge Rare Disease Network - Accelerating the Identification of Genetic Diseases 1
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Accelerating the Identification of Genetic Diseases

Date: 20 August, 2020
Time: 4pm BST (5pm CET | 8am PT | 11am ET)

Speaker: Helen Savage DipRCPath, Deputy Head of Clinical Services, Congenica


Realizing the potential of precision medicine relies on accurate and efficient diagnoses. However, even less complex NGS cases can take experts 12 hours to analyze – adding over $500 of costs to every analysis.[1]

Alongside this, 71% of clinical laboratories report that they are nearly or completely at capacity.[2] Increasing case throughput and reducing interpretation time are therefore essential.

In this webinar, Helen Savage DipRCPath, Deputy Head of Clinical Services at Congenica will present how Congenica Automation can now enable complex evidenced genomic data interpretation – including classification, evidence and reporting in as little as 5-minutes.

Learning outcomes

Join us for this webinar to discover:

  • How to maximize case throughput using your own curated variant lists
  • Methods to reliably automate genomic analysis with confidence and transparency
  • How to interpretate and report a case in as little as 5 minutes.

About our speaker

Helen Savage Square

Helen is a Clinical Scientist with 12 years’ experience working in the NHS and biotech industry. She is skilled in variant interpretation across rare disease and cancer, feeding her clinical experience into Product Management in Congenica, to develop a best-in-class software solution for the analysis and interpretation of genetic data for patients with rare disease.


  1. Schwarze, K. et al. Genet Med 22, 85–94 (2020)
  2. Maiese, D. et al. Genet Med 21, 1874–1877 (2019)