Introduction to Genomics
SE Genomics Autumn Festival 2023
The South East Genomics held its fourth virtual festival on Genomics & Children’s Medicine, where we continue to share our learning and celebrate our achievements.
Our leading paediatric genomic experts shared their knowledge and latest developments on genomic precision medicine. The focus topics were screening newborns for genomic disease, Rapid whole genome sequencing (R14 testing) and Precision medicine. We also shared a conversation with Mel Dixon who is Mum to two children who have a rare neurodevelopmental genetic condition.
Introduction to Genomics and Genomic Technologies
Within this presentation you will find an overview of genomic data, how it is used and analysed, and applications for healthcare. Dr Snape discusses the clinical impact of genomics including on rare and common diseases, gene editing/gene therapy, infectious disease, fetal diagnostics and pharmacogenomics.
The new genomic medicine service and implications for patients
This paper from the Clinical Medicine journal describes the implementation of a national Genomic Medicine Service (GMS) in the UK. Building upon the experience and infrastructure from the 100 000 Genomes Project, the GMS will allow equitable access for patients to genomics tests across the country.
GEP rare disease education hub
Visit the Genomics Education Programme (GEP) hub for rare disease to learn more about why rare disease is a healthcare priority in the UK – and where genomics can help.
The hub includes the definition of a rare disease and the different types, videos from patients and families with confirmed or suspected genomic rare conditions, the role of healthcare professionals involved in seeking and delivering diagnoses for patients, and links to further learning.
SE Genomics Spring Festival 2023
The South East Genomic Medicine Service Alliance held its third virtual festival, SE Genomics Spring Festival – Genomics ‘It’s A Family Affair’ where we continued to share our learning and celebrate our achievements.
SE Genomics Autumn Festival 2022
SE Genomics Autumn Festival was the second virtual festival of the year, where we continued to share our learning and celebrate our achievements.
The speakers provided an overview of how the latest developments in genomics are impacting cancer care and share their expertise on different cancer genomics pathways and the tests available. The focus topics were Lynch Syndrome, Haemato-oncology and Targeted therapies including ctDNA which included a patient story.
SE Genomics Spring Festival 2022
South East Genomic Service Medicine Alliance Spring Festival took place to celebrate our first years progress.
This is the first of a series of events we are planning for the Alliance. The Alliance is a collective of providers working in partnership to strategically and systematically embed genomic medicine for the South East. We wanted to share our learning and celebrate our achievements with you, together with signposting you to where you can get more information about our work and opportunities to get involved.
For this first event we provided an overview of what the Alliance is all about, together with key note speakers giving an overview of the progress that has been made in Cardiology, Renal and Neurology transformation projects, and introducing our Equality, Diversity and Inclusion strategy.
The event was open to all our staff, patients and public to attend.
