Whole Genome Sequencing at Birth: Implementing the Generation Study
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Description
This episode of the Progress Educational Trust (PET) podcast discusses the Generation Study – an NHS-embedded research study which is sequencing the whole genomes of 100,000 newborn babies, in order to understand whether we can improve our ability to diagnose and treat genetic conditions. The discussion is chaired by Sarah Norcross (Director of PET), with contributions from: ⚫ Amanda Pichini (Clinical Director at Genomics England) ⚫ Phern Adams (Project Manager for the Generation Study at Birmingham Women's Hospital) ⚫ Dr Chinthika Piyasena (Principal Investigator for the Newborn Genomes Programme for Evelina London) ⚫ Dr Robin Lachmann (Consultant in Inherited Metabolic Disease at the National Hospital for Neurology and Neurosurgery) The Generation Study involves babies born in various hospitals in England. Results of the study will help inform future decisions about using whole genome sequencing to support newborn screening. In this discussion, experts and practitioners explain how the Generation Study is being implemented, and the benefits and risks that may be involved. PET is grateful to Genomics England and its Newborn Genomes Programme for supporting this discussion. PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast. Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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