Bringing genomics into Community Paediatrics

On 14 July 2022 the North Thames Genomic Medicine Service (GMS) held an event showcasing how genomic medicine is transforming healthcare in our region.

Global developmental delay (DD) and Intellectual Disability affect 2%–3% of the worldwide population, however historical investigation techniques for developmental delay in children have had low diagnostic yields.

Genetic testing provides a significantly higher diagnostic yield than previous techniques and is helping to provide diagnoses for these children, supporting their management and clinical decisions related to their care.

In this talk, Dr Elaine Clark, a Consultant Paediatrician at Great Ormond Street Hospital for Children, discusses the work of North Thames GMSA in bringing genomics into community paediatrics to help in clinical management of conditions and support accurate genetic counselling.