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October 2023

As we move into Autumn we're pleased to bring you another packed newsletter on all things genomics for the East Midlands and East of England.

In this edition we cover the national Genomics Summit in December which is now open for registrations, outputs from some of our transformation projects, new GeNotes collections from the Genomics Education Programme on pharmacogenomics and endocrinology, an opportunity to lead on cancer with East Midlands Cancer Alliance, updates from our Genomic Laboratory Hub (GLH) plus lots more.

We also have the usual events, training and education opportunities and links to useful resources. We welcome feedback and suggestions for what you would like to see more of. Please email us here or complete the poll at the end of this newsletter.

NHS Genomics Summit 2023

You can now register here for this year’s NHS Genomics Healthcare Summit, taking place Tuesday 12 December at The Kia Oval, London. If you see a security warning simply click the link through to the site.

The summit is designed for NHS multi-professional and system leaders, patients and patient groups, policymakers, industry, professional bodies and charity partners, NHS providers and other stakeholders within the genomics field.

The programme will include plenaries covering what has been achieved since last year’s inaugural summit which featured the launch of the Accelerating genomic medicine in the NHS strategy; ongoing work to mainstream genomic medicine in the NHS; how alignment with research is driving improvements in patient care and a look towards the future with genomics embedded in the NHS.

The full agenda will be added to the website soon.

News and updates

East GMSA project resources and outputs 

A number of East GMSA projects are producing outputs which are being added to the East Genomics website. Our Feto Maternal Genomic Pathways project team have added a new resource page containing an R21 testing inclusion criteria poster and a Pathway checklist document. 

Our Lynch syndrome team have added a new page with testing guidance/protocols, management guidelines, patient info and letter templates and other documents for use by clinicians. The team also wish to highlight that the national Implementing Lynch syndrome testing and surveillance pathways handbook has been updated. 


If you would like to discuss these resources further please contact (R21) or (Lynch).

Lynch syndrome patient event & Expert Network

On 13 September we co-hosted a Lynch syndrome (LS) patient event in Leicester with East Midlands Cancer Alliance. The event also launched a new East Midlands Lynch Syndrome Expert Network.

Patients joined us to get information and support, and enjoyed talks on health management of LS, speaking to children and relatives about LS, LS and the menopause, prostate cancer screening and talks from fellow LS patients.

The new East Midlands Lynch Syndrome Expert Network (EMLSEN) is an expert MDT which provides expert, equitable care for those with Lynch syndrome across the East Midlands. Clinicians can refer their LS diagnosed patients into EMLSEN. Find out more, including how to refer your patients.  Check our website over the coming month for more information on the new East of England Lynch Syndrome Expert Network (EoELSEN)

GeNotes Pharmacogenomics and Endocrinology

The GeNotes pharmacogenomics and endocrinology collections have been launched since our last newsletter. 

Underpinning the short, scenario-based In the Clinic examples is the Knowledge Hub, packed with bitesize resources on core genomics conceptsspecific genetic conditionsgenomic testing technologies and more – perfect for busy clinicians who want to continue their learning. 

They join existing specialties oncology, primary care, paediatrics and fetal and women’s healthWorking groups are developing content for a range of other specialties – from cardiology to mental health. If you think your speciality should be included or you’re interested in getting involved, please get in touch.

East Midlands Cancer Alliance Roles

EMCA is looking for clinicians from primary and secondary care with an interest in genomics to clinically lead their genomics work as part of their growing early diagnosis and detection programme

The successful individuals will also be expected to link with our East GMSA Cancer Leads and also the work of the upcoming Cancer Genomic Network of Excellence. Find out more about the role and how to apply on the EMCA website.

September Awareness Dates

September is the Awareness Month for a number of cancers including prostate, blood, childhood and gynaecological. It is also a month with World Days for leukemia and lymphoma, as well as Hereditary Cancer Week and Jeans for Genes Week. Below you can see just some of the ways we marked these dates. 

You can also read an interview with Bría McAllister, Urology Nurse Practitioner at Nottingham University Hospitals, on how she and colleagues are supporting prostate cancer patients in the East Midlands,

Professor Julian Barwell, Clinical Lead for our United Against Prostate Cancer project, spoke to BBC Radio Leicester for Hereditary Cancer Week.

To mark Prostate Cancer Awareness Month we're re-sharing Andy's story, in memory of his life. Andy sadly passed away several months after filming.

East Pharmacy Network podcast

Episode 2 of our Pharmacy Network podcast is now out, and you can listen to the episode here. Our Pharmacy Lead, Paul Selby spoke to Emma Groves about the National Pharmacy Workforce Strategy and what resources are available for pharmacy teams in the East region. 

Before the interview we hear from three pharmacists with differing backgrounds who attended the East Genomics showcase event held in Peterborough in May 2023. The Pharmacy Network can be found on the East Genomics FutureNHS platform (requires NHS email). Contact Paul Selby to request access. 

Medics 4 Rare Diseases newsletter
Medics 4 Rare Diseases recently launched a new Rare Diseases campaign, highlighting the importance of research and drug development and the need for access, funding and support to bring together and benefit the Rare Disease Community. The newsletter also links to the M4RD blog. You can read the newsletter here

Genomics England Generation Study announcement

Genomics England have published an initial list of over 200 rare conditions that will be looked for as part of its world-leading Generation Study, which aims to start in NHS hospitals in late 2023.

The Generation Study is an NHS-embedded research study which aims to understand whether sequencing babies’ genomes can help to discover rare genetic conditions earlier. It aims to look at the DNA of over 100,000 babies and gather evidence to consider whether whole genome sequencing could be rolled out as part of a future newborn screening programme.

Read more and see the full list of 223 conditions here. You can also see our East Generation Study webpage here.

Laboratory updates

Meet Hannah, WGS Sequencing Coordinator

Whole Genome Sequencing (WGS) is the analysis of an individual’s entire DNA and is offered to patients who may have inherited diseases or cancer.  Understanding what changes – or mutations – have occurred in someone’s DNA enables doctors to develop a personalised treatment plan for their condition going forwards.


As WGS Coordinator in the Cambridge Genomics Laboratory, Hannah’s job is unique.  She ensures the different elements in the WGS service run efficiently, from receiving a patient sample, to providing a written lab report: ‘I trouble shoot any issues that we have, from working with colleagues in other laboratories to checking data and dealing with email enquiries,’ she explained.


Find out more about Hannah and her role on our website.

Test order forms for Rare Disease (non WGS) and FH now available on our website

If you are a clinician ordering genomic tests, please be aware that new and updated order forms are now available on our website.  You will need to download these forms to complete electronically (there is a dropdown menu for dates) when ordering tests.

Update to National Genomic Test Directory - Solid Tumor

The Clinical Indications, tests available and eligibility criteria for patients are regularly updated. A major update to the Solid Tumour Test Directory is published each year in Spring. 

Minor updates are published throughout the year, and there has been an update this month for Colorectal carcinoma (clinical indication test code M1.4. Please see our website for more informationPlease also note we have a page for Updates to the Rare and Inherited Disease National Genomic Test Directory

Service turnaround times - data issue

Cambridge Genomics Laboratory is experiencing delays in obtaining turnaround times (TATs) for all tests and is currently unable to provide figures on the East Genomics website.


This is due to an upgrade in our Epic reporting system. We are working hard to provide accurate TATs and will update our website as soon as the information becomes available. Thank you for your patience during this time.

Events, education and training

Genomics BITEs

Last month we delivered a very well received Genomics BITE session on the subject of Prenatal exome sequencing, or R21 testing, to over 90 attendees. You can watch the session below:

Finding the Fragments: ctDNA in lung cancer event

We are hosting an education / engagement seminar on the national lung cancer ctDNA pilot, which will be expanding to 10,000 patients nationally in 2023/24. 

This is a hybrid event allowing for in-person and virtual attendance via MS Teams: 

  • Monday 9 October, 4-5pm
  • Lecture Theatre, CRUK Cambridge Institute, Robinson Way

Cancerous cells and tumours leak DNA into the bloodstream as the tumour grows. It is possible to look for these fragments of DNA as a way to determine if a tumour is present and so confirm a diagnosis. This form of testing could lead to much earlier diagnosis of cancer leading to faster and more effective treatment

You can see the full agenda and register your attendance here. Read more about the ctDNA pilot project here.
R21 (Prenatal Exome Sequencing) project presentation

Tuesday 7 November 2023, 10am - 11.30am via MS Teams

In this final presentation from our R21 project team, we will share our survey findings, give an overview of resources we have developed for healthcare staff (including details of R21 e-learning module) as well as next steps for taking forward the project recommendations.

Download the Outlook calendar invite here, or email  to be added to the event.
Genomic testing for rare disease: Learn with the experts
If you want to understand the practical aspects around requesting tests through the National Genomic Test Directory, starting from Monday 2 October you can join the National Genomics Education programme on their free two-week FutureLearn course, where you will be supported by a team of expert mentors. 

The course covers different types of genomic testing for rare disease – from single gene tests to whole genome sequencing – and walks you through the application of this testing in clinical practice. Visit the course page to find out more.


Virtual Prenatal Genetics Short Course

Guy's and St. Thomas' NHS Trust is running a skills-based course designed to give midwives and other health professionals working in a prenatal testing setting tools to help them to enable patients to access appropriate onwards referral. 

These include obtaining a family history, identifying high-risk family histories, approaches to genetic testing, consent taking and counselling skills associated with providing information and results.

This online course begins on 18 October and is Royal College of Midwives (RCM) accredited. Find out more here including the full course programme and how to apply.

Quick links

Contact us

  • Enquiries regarding any specific genomic tests should be directed to East Genomic Laboratory Hub (East GLH) on
  • Enquiries in relation to transformational projects and wider engagement initiatives should be directed to the East Genomic Medicine Service Alliance (East GMSA) on

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