At Genomics England, our vision is a world where everyone benefits from genomic healthcare.
From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science.
Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.
Episodes
Monday Oct 02, 2023
Monday Oct 02, 2023
The Newborn Genomes Programme is delivering the Generation Study in partnership with the NHS. The study will explore the possibilities of whole genome sequencing in newborn babies, including to identify a wider range of rare genetic conditions current NHS newborn blood spot test. To do this, we have undertaken significant engagement work to identify the genetic conditions that should be looked for and fed back to families.
In this episode, Vivienne Parry, Head of Public Engagement at Genomics England, speaks to David Bick, Principal Clinician for Newborn Genomes Programme at Genomics England. They discuss the process behind determining the provisional list of over 200 conditions caused by genetic changes in more than 500 different genes and how this list may change during the course of the study as new evidence emerges.
You can read the transcript here: Conditions-list-for-the-Generation-Study.docx
You can also find a short explainer video explaining the conditions list on our YouTube channel.
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