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Curating the Clinical Genome 2019

Location: Washington DC, USA

Congenica exhibited at the Curating the Clinical Genome conference in Washington D.C., U.S. in May, and hosted a talk by Dr Philip Beales, Professor of Medical and Molecular Genetics at the UCL Institute of Child Health (ICH) entitled: “Case studies: Timely and accurate diagnosis – informing clinical actions”.

Dr Beales, spoke on his experience in clinical diagnostics, outlining specific case studies of how his hospital has used innovative clinical interpretation tools to deliver timely and accurate diagnoses, which inform clinical actions.

Achieving a timely and accurate diagnosis is critical to patients and their families, enabling meaningful clinical interventions and informing treatment and management. Dr Beales presented two cases, one prenatal and one pediatric intensive care, where Congenica’s diagnostic decision support platform facilitated a rapid and definitive diagnosis. In both cases, the result informed critical clinical decision making for patient and parent benefit.


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