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January 2024

If it's not too far into January already, happy new year! Welcome to our first genomics update of 2024. We hope you continue to find these updates useful, along with the regular updates we make to our website and social media accounts. Here's a rundown of what we have for you this month:

News and updates

  • Our project outputs
  • NHSE announce new Genomic Networks of Excellence
  • National Genomic Summit slides now available
  • GEP patient experience survey
  • Genomics on Trust staff apps and intranets
  • WGS in standard cancer care
  • Refreshed Genomic Competence Framework for nurses
  • Podcasts
  • Lynch Syndrome patient survey
  • Rare Disease Day 2024

Laboratory updates

  • Rare and Inherited Disease updates
  • Update on HRD testing/sample pathway
  • Job opportunities
  • Clinician's guide to cancer testing
  • Festival of Genomics and Biodata
  • Monogenic Diabetes in Maternity
  • Lynch Syndrome patient event April
  • Midlands Dysmorphology Meeting
  • East Paediatric Genomics Forum
  • Lynch Syndrome Mainstreaming event
  • Genomics of Rare Disease Conference
  • Genomic Medicine Course

Please do get in touch with us with any queries or requests for support. 

News and updates

Our project outputs

We are adding resources and outputs from our Genomic Medicine Service Alliance (GMSA) transformation projects - both here in the East Midlands and East of England and those from the other six GMSAs around the country. 

So far we have added resources covering Polycystic Kidney Disease (PKD), Prenatal exome sequencing (R21 testing), Lynch Syndrome and Familial Hypercholesteroleamia. Please see our Project Resources and Outputs webpage which we will continue to develop and add to..

Genomic Networks of Excellence announced

NHSE has announced funding for eight new NHS Genomic Networks of Excellence, as follows:

  • Prenatal Genomic Medicine 
  • Circulating Tumour Biomarker Testing 
  • Haemato-Oncology 
  • NHS Rare and Inherited Disease 
  • Severe presentation of Infectious Disease 
  • Improving the identification and outcomes for individuals with inherited and acquired cardiovascular disease
  • Pharmacogenomic and Medicines Optimisation
  • Genomics Artificial Intelligence (AI) 

You can read more on our website.

Slides from GMS Summit in December

Slides are now available from the national Genomics Summit held at the Kia Oval, London back in December.  The slides can be found hereTo access a speaker’s slides, click on their hyperlinked name. Please note, some speakers declined to share slides, whilst others did not use slides.  

Genomics Education Programme Patient Survey

GEP is running a short national survey to find out more about patient thoughts and experiences of the care and treatment they have received in the lead-up to genetic/genomic testing, during testing, and after receiving their results.

The survey can be found here. It should take less than 10 minutes to complete and closes on 31 January 2024. Please share the survey link with any patients/patient groups and networks that you have contact with.

Genomics info and resources on NUH staff app

We are pleased to report that we now have a section of the Nottingham University Hospitals staff app dedicated to information and resources on genomics and genetic testing. If you are a member of NUH staff you can find information on how to download the app.

If you would like to discuss adding or developing information on genomics and genetic testing on your own Trust app or intranet, please contact our Communications Lead Ian Kingsbury.

Landmark national study supports use of whole genome sequencing in standard cancer care
A new study published in Nature last week has shown how combining health data with whole genome sequencing (WGS) data in patients with cancer can help to provide more tailored care for patients.  The research shows that linking WGS data to real-world clinical data can identify changes in cancer DNA that may be relevant for an individual patient’s care, for example by helping identify what treatment might work best for them based on their cancer. Read the full story here.
Revised genomic competence framework for UK nurses published
The national Genomics Education Programme has published the revised Genomic competency framework for nurses. The framework is applicable to all registered nurses irrespective of role or area of clinical practice. You can 

download and read the full framework here.


Isobel Turbin, Principal Genetic Counsellor at Cambridge University Hospitals and the East Anglia Regional Genetics Service, recently took part in a Cancer Research UK podcast called 'Ask me anything about…genetic testing in pancreatic cancer'. You can hear Isobel here.
A recent Genomics England (GEL) podcast reflected on their journey over the last 10 years, the impact of embedding genomic testing in the NHS, the 100k Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today. Hosted by Rebecca Middleton, outgoing Vice Chair of GEL's Participant Panel and member of our Patient and Public Voice (PPV) Panel, you can listen here.

Lynch Syndrome Patient Experience Survey

Our Lynch Syndrome patient experience survey has had almost 300 responses to date. We would like to thank national charity Lynch Syndrome UK for their help in reaching people with LS. The survey closes on 31 January 2024 so please do share this link with any patients with a confirmed diagnosis of Lynch Syndrome.

Frontline Genomics Cancer Genomics Report

Last month Front Line Genomics launched their 2023 Cancer Genomics Intelligence Report, a free-to-download resource bringing you the latest research, techniques and insights from leading experts in the cancer genomics field. 

Rare Disease Day 2024

Each year at the end of February Rare Disease Day seeks to raise awareness of rare diseases and conditions, and the fact that they are individually rare but collectively much more common than people think (there are 3.5m people with a rare disease in the UK). The day also highlights many people's experience of what can often be a very long - sometimes decades long - journey to get a diagnosis/answers (often called the 'diagnostic odyssey').

This leap year Rare Disease Day is itself very rare, landing as it does on 29th FebruaryWe'll be sharing events, resources and patient stories in the run up to the day. Be sure to follow us on Twitter and connect with us on LinkedIn, and check out the news pages of our website throughout next month. In the meantime you can read some of our patient stories here, here and here. Information on genetic testing for rare and inherited disease can be found on our website here. Are you planning to mark Rare Disease Day within your Trust or Service? Let us know your plans and we'll help get the word out!

Laboratory updates

Rare and Inherited Disease Updates

For the latest updates to the National Genomic Test Directory for Rare and Inherited Disease (dated 8 January 2024) see our update page on our website.

Update on HRD testing/sample pathway

From the 2 January 2024 all East Midlands/East of England samples for Homologous Recombination Deficiency (HRD) testing for advanced ovarian cancer will need to be routed to the East GLH (Cambridge Genomics Laboratory) for send out to Myriad. The sample requirements for HRD remain unchanged. Blocks cannot be accepted. 

From 1 April 2024, testing will be provided directly by East GLH and any changes in the referral process or sample requirements will be communicated ahead of this date. 

Further details and referral forms can be found on our website.

We are recruiting!

Our Lead Genomic Laboratory Hub site at Cambridge University Hospitals is recruiting to two new posts, both based at their Addenbrooke's Hospital site:
If you would like to hear about opportunities as and when they arise within our three Genomic Laboratory sites (Cambridge, Nottingham and Leicester) you can sign up to our job alert service here.

We are also recruiting two new GP Leads to help us drive mainstreaming, service improvement and education and training within primary care across the East Midlands and East of England. The closing date for applications is 11 February 2024 and you can find out more about the role, including how to apply, on our website here.

Events, education and training

Genomics in the NHS: A Clinician's guide to genomic testing for cancer (solid tumour)

This new online, 2-week course launched by the National Genomics Education programme provides a comprehensive overview of genomic testing in cancer and aims to support clinicians in navigating the testing pathway, including how to use the National Genomic Test Directory, reading genomic reports and feeding back results to patients.


Learners will hear from genomics specialists and patients with lived experience of cancer, to help contextualise the scope and importance of genomic testing. Expert mentors will be on hand to provide support and answer questions.


For further details or to sign up, please visit the course page. NHS staff signing up from Monday 22 Jan should use this link, which provides a free, lifetime course upgrade.


Festival of Genomics and Biodata, 24-25 Jan

Register here for this year’s Festival of Genomics and Biodata taking place at the ExCeL in London on 24 and 25 January.


Free for NHS staff, the Festival is an annual get-together for the entire genomics and biodata community to discover, meet, learn and celebrate. It promises inspirational speakers, the latest research and clinical breakthroughs, cutting-edge technology and incredible networking opportunities.


The Festival will feature over 270 inspirational speakers including NHS England’s Chief Scientific Officer and Senior Responsible Officer for Genomics, Professor Dame Sue Hill, and our very own East Genomics Midwifery Lead, Jo Hargrave, and Patient and Public Voice Panel Chair, Chris Hind. Find out more here.


Monogenic Diabetes in Maternity Study Day

We are delighted to offer one secured slot per Trust maternity diabetes team to attend the ‘monogenic diabetes in maternity’ study day in London on Thursday 22 February. These places are limited to one per Trust/site within the East Midlands and East of EnglandPlease see our website for further information, including how to request a place.


East Paediatric Genomics Forum

Genomics for childhood and TYA cancer, Thursday 25 January, 12.30 – 1.30pm

Register for this event here. If you are new to the East Paediatric Genomics Forum, this is a free monthly forum for paediatricians in our region (East Midlands and East of England) held on the fourth Thursday of each month,12.30 – 1.30pm.  We’ve covered lots of topics and all sessions have been recorded.  These recordings, supporting documents and other relevant information can be found on our FuturesNHS workspace.  If you require access to this workspace please contact Marie Baker.


Lynch Syndrome Mainstreaming Network

Join our colleagues in the South East on Monday 29 January 2024 for an (online) afternoon of learning about the current and future plans for Lynch Syndrome testing pathways. Find out more and register.


Midlands Dysmorphology Meeting

The Next Midlands Dysmorphology Meeting will be held on Friday 26 January at Odames Library Seminar Room (Victoria Building Level 1, Leicester Royal Infirmary, LE1 5WW). Registration is 9.30am and the day finishes at 3.45pm. To find out more please contact Pradeep Vasudevan (Head of Service, Clinical Genetics, University Hospitals of Leicester NHS Trust).


Lynch Syndrome Patient Event

We are working with a number of partners to host a public event aimed at people with a diagnosis of Lynch Syndrome (LS). A hybrid event to be held on Monday 22 April 2024, people will have the choice to attend in-person at the Motorpoint Arena in Nottingham, or virtually online.

The day will include shared experiences from others with LS, updates from healthcare professionals on the management and treatment of LS, what information and support is available to patients, including a new app, the different types of screening available, networking and an interactive Q&A session, plus refreshments. The event website is here.

Please share this with patients and/or groups of patients with a confirmed diagnosis of Lynch Syndrome.

Genomics of Rare Disease conference
Wellcome Connecting Science are running their 18th Genomics of Rare Disease Conference on 25 - 27 March 2024 at the Wellcome campus, Cambridgeshire. The event will combine recent research on genetic mechanisms involved in disease, with advances in approaches for clinical care, and includes a discussion on the use of a ‘pangenome’ to improve diagnostic yield, the role of common variants in rare disease, and new developments in prenatal and neonatal genomic screening.
WATCH: Trailor for Course in Genomic Medicine, Institute of Continuing Education

Quick links

Contact us

  • Enquiries regarding any specific genomic tests should be directed to East Genomic Laboratory Hub (East GLH) at
  • Enquiries in relation to transformation/pilot projects and wider education and engagement should be directed to the East Genomic Medicine Service Alliance (East GMSA) at

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