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.

 The speakers explained the importance of consenting for genomics test, and the implications of genomics test result for family members. We also had a patient share her lived experience with a genetic condition.


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.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.