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December 2023

Welcome to the our last newsletter of 2023. 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:

Please do get in touch with us with any queries or requests for support. Although still November, we want to take this opportunity wish you a very merry Christmas and a restful and relaxing holiday period.

East Genomics out and about

Educating and engaging healthcare staff about the benefits of genomic medicine to patients, and supporting the embedding of genomics in mainstream healthcare are central to our mission. 

To support this, East Genomics staff are presenting at upcoming conferences and events, so if you are attending any of them please do seek us out and say hello. On Friday 8 December our Clinical Director, Dick Sandford and Medical Lead Guru Aithal will be at the Nottingham Biomedical Research Centre (BRC) annual conference.

The following week we will be in London for the national NHS Genomics Summit. The event is now fully booked but you can see the agenda here, and if you are attending you can catch our Public and Patient Voice (PPV) Panel Chair, Chris Hind, on the panel for the PPI session.

Since our last newsletter a number of colleagues have been at events and conferences to spread the G-word. Here's just a snapshot:

  • Paul Selby and Aris Saoulidis, Pharmacy Leads, presented a poster on pharmacogenomics at the UK Clinical Pharmacy Conference.
  • Dr Gemma Chandratillake, Education and Training Lead convened a session on Counselling, Communication & Consent in Human Genetics Contexts Across the Lifetime at the International Congress in Genetics.
  • East Genomics colleagues joined Cambridge rare Disease Networks' RARESummit23 - more on that below.
  • To coincide with Movember, Professor Julian Barwell addressed hundreds of staff at Land Rover Jaguar about our work to tackle health inequalities in prostate cancer and also spoke at the University of Leicester.
If you would like to speak to us about contributing to an event, study day, conference, grand round or simply having an information stand at your Trust to raise awareness of the benefits and impacts of genomic medicine, please get in touch with us and we'd be delighted to discuss your requirements.

News and updates

World-first trial launches in Cambridge to help children with rare type of genetic hearing loss 

Addenbrooke’s Hospital in Cambridge is participating in a world-first trial to see whether gene therapy can provide hearing for children with severe to profound hearing loss due to a rare genetic condition. Read the full story here.

Finding the missing 92%… a genetics service is helping to find people at risk from an underdiagnosed cholesterol condition.

During Heart UK’s National Cholesterol Month in October, we announced how our new pilot service based at Norfolk and Norwich University Hospitals is working with local GP Practices to identify people at highest risk of Familial Hypercholesterolaemia (FH).

FH is a genetic disorder that brings a greatly increased risk of premature coronary heart disease. It is one of the most common inherited disorders, with 1 in 250 people affected nationally. Despite the increased risks, nationally only 8% of people thought to have the condition have been identified, leaving the vast majority of those affected at risk.

Across Norfolk and Waveney, there are estimated to be around 4,300 people with FH, but only a small percentage have been identified and sent for testing. Shelina Rajan, Clinical Nurse Specialist – FH and Lipid Management, at NNUH explains: "We are supporting GP Practices to identify more people at high risk of FH earlier, to enable them to start management and treatment to improve their long-term health and outcomes....". Read more on our website.

GMSA project outputs

Our East GMSA Cystic Renal Disease project team have produced two infographic posters which outline the opportunities for genomic testing across the lifespan, from pre-pregnancy to early adulthood. 

With one aimed at healthcare professionals in NHS Trusts and the other aimed at patients and the public, the posters are available for display in healthcare settings and can be rebranded on request. Please see our website to find out more about using them.

South West GMSA and AstraZeneca UK LTD are collaborating on a project called BReast CAncer Genes and Me - Digital Patient Empowerment project to implement a digital consent pathway for breast cancer genetic testing, supporting patients’ and their families’ information needs. Six short animations and a fact sheet have been co-designed with clinicians and patients to provide an overview of the genetic testing pathway. You can view the videos on the South West GMSA YouTube channel here.

North East and Yorkshire GMSA Nursing and Midwifery team have produced a range of Think Genomics leaflets and videos to support midwives in providing care throughout pregnancy in relation to genomics. You can access the resources on the NEY GMSA website. NEY GMSA have also produced a series of Prenatal Invasive Testing videos and information leaflets available in Arabic, Polish, Punjabi, Romanian, Urdu, which you can find here

New web pages for nurses and midwives

We have put together a new area of our website dedicated to supporting nurses and midwives across the East Midlands and East of England. The new pages contain information, links and resources to support you to develop your knowledge, understanding and use of genomics within your practice, for the benefit of your patients and their families. The pages include:

If you have any questions about genomics, or you would like to find out more about how we can support you and your colleagues, please contact our Lead Nurse Annette Breen or Lead Midwife Jo Hargrave.

ctDNA roll out continues

Last month we held a session on the Circulating Tumour DNA (ctDNA) project. You can view the slides here.

Cancerous cells and tumours leak DNA into the bloodstream as the tumour grows. It is possible to look for these DNA fragments to determine if a tumour is present, and confirm a diagnosis.

This project is providing evidence for the expansion of ctDNA testing in the NHS to support early diagnosis of cancer, and diagnosis of cancer for patients who currently cannot have a tumour biopsy or do not yet have a confirmed diagnosis​.

This form of testing could lead to much earlier diagnosis of cancer leading to faster and more effective treatment. The technology has high detection rates - an average of 88% - across multiple solid cancers with shorter turnaround times than standard of care tissue testing.

Currently samples are being taken from patients with non-small cell lung cancer in Cambridge, Leicester, Kettering and West Suffolk. A sample of blood can be used to look for and measure the amount of ctDNA and identify specific changes in the DNA. If you would like to discuss the process for including your own Trust in our pilot project, please contact our Strategy Director Emmanuel Ncube for an initial discussion.

Go-live for PhenoTips at Leicester

We recently launched PhenoTips - a cloud-based Genomic Health Record system for taking the genetic family history of patients - at University Hospitals of Leicester NHS Trust.

The tool supports clinicians in making diagnoses, deciding the appropriateness of genetic testing, decisions over what care to offer, and whether patients could benefit from genetic counselling family planning support.

Professor Dick Sandford, East GMSA Clinical Director said: “Our collaboration with PhenoTips is an important step towards embedding genomics into patient care pathways, meaning appropriate genomic testing will be available to anyone who could benefit from it".

Cambridge University Hospitals have been using PhenoTips for some years now. Dr. Marc Tischkowitz, Professor of Medical Genetics said: “Before Phenotips, we would draw family trees by hand. This was a problem if it needed to be altered over time, or if illegibility made reviewing it difficult. As a digital solution, PhenoTips doesn’t just improve family history taking, it also provides data capturing, document storage, and improved diagnoses for the oncology and dysmorphology departments. It revolutionized how we work and made us much more efficient”. Read the full story here.

Get aHead in Genomics


The GeNotes Neurology collection has been launched since our last newsletter. Underpinning the short, scenario-based In the Clinic examples is the Knowledge Hub, packed with bitesize resources.

Genomics Education for Psychiatrists

The Royal College of Psychiatrists is holding a Genomics Education webinar on 5 December 2023. The online session will provide an overview of the principles of genomics relevant to psychiatry, introduce the genetic landscape of psychiatric disorders and describe the role of mental health professionals in genomic medicine. For more information or to register please visit the event page.

Lynch syndrome patient experience survey

Karine Latter, a member of our PPV Panel, has worked with our Lynch Syndrome (LS) group and Lynch  Syndrome UK on a survey to find out about peoples’ experiences of LS diagnosis, genetic testing and management. The survey can be found here and closes on 31 January 2024. 

Please share this with patients with a confirmed LS diagnosis.

Paediatric Forum update

Our next Paediatric Forum will be held on Thursday (23 November) with a focus on Breaking bad news; Looking at Genetic Counselling PathwaysWe will be joined by Proscovia Kabnad-Iga, Consultant Community Paediatrician from Northamptonshire Healthcare NHS Foundation Trust.  You can read the latest Paeds Forum newsletter here and view previous recordings on our FutureNHS pages here.

Have you downloaded QGenome?

The Medicines and Healthcare products Regulatory Agency recently licensed Anastrazole as a preventive option for women at moderate or high risk of breast cancer due to their family history. Read more here and here

As a result, GPs in particular will need to manage the increased demand from patients for a formal breast cancer risk assessment.

The QGenome app offers all healthcare professionals quick, readily-accessible guidance (iOS, Android or via the Web) including dedicated Breast Cancer decision workflows for: Referral guidance, Risk assessment, Genomic testing and Determining Eligibility for Anastrazole. See the QGenome quick start guide here.

Addressing Health Inequalities through tech

Health Innovation East Midlands (formerly East Midlands AHSN) recently held a Race Disparity - Inclusive Innovation in Health webinar. Read a blog by Shahnaz Azizm, Head of Health Equalities and Involvement at HIEM that accompanied the webinar.

Among the many examples of how inclusive innovations are working to combat race disparity in healthcare were the JANAM app which provides information to patients from South Asian backgrounds, and CardMedic, another app promoting accessible and appropriate communication with patients.

CAMRare's RARESummit23 highlights

Held on 12 October 2023 at the Wellcome Genome Campus in Cambridge, 

Cambridge Rare Disease Network's RAREsummit23 brought together stakeholders in Rare Diseases for a fascinating day of discussions, education and debate. You can view highlights on CAMRare's YouTube channel.

Introducing Clinical Pathway Initiatives (CPIs)

To support the development of a common approach to the training and education of NHS health professionals, the National Genomics Education programme has developed the Clinical Pathway Initiative (CPI), to provide a co-ordinated and consistent approach to the integration of genomic medicine across NHS workforce education and training.


Each CPI pathway aims to identify the key genomics competencies required of health professionals involved in each step of the patient journey. A list of the other CPI projects that are currently underway can be found on these dedicated webpages. You will also find an information pack containing a range of resources to help you develop a clinical pathway.

Laboratory updates

Meet Saranja Rishikeson, pre-reg clinical scientist, University Hospitals of Leicester 
Clinical scientists play a crucial role within the Genomic Medicine Service by providing the high-level knowledge and specialist expertise needed to run the service effectively. As well as checking referrals and assigning and activating tests, they analyse, interpret and report test results. They also act as a pivotal link between technical teams and clinicians treating patients.

For Saranja Rishikeson, the role of a clinical scientist bears resemblance to that of a detective. Her work revolves around unravelling medical mysteries, specifically identifying genetic changes that contribute to rare conditions in patients. "By pinpointing these genetic variations, we can offer timely and crucial information, potentially making a significant impact on their treatment outcomes".... Read the full piece on our website.

New guidelines for Solid Cancer WGS referrals

Please note that we have published the following new guidelines on our website for Solid Cancer Whole Genome Sequencing referrals:

Events, education and training

Genomics BITE

On 15 November we delivered a very well received Genomics BITE session on the subject of Cancer Genomics and our United Against Prostate Cancer project. You can watch the session below:

If you have accessed training content from the Genomics Education Programme, FutureLearn and other providers, and want to take your genomics knowledge to the next level, the Cambridge Genomic Medicine Programme offer a modular programme.

The next opportunity to study on the programme is via their gateway module Introduction to human genetics and genomics delivered by our very own Dr Gemma Chandratillake (GLH Education and Training Lead). The course runs for 1 week in January and applications must be received by 15 December 2023.

Further 'Gateway' modules which may be of interest include the Gateway to Genetic Counseling for Nurses and Midwives (running 26 Feb - 1 Mar 2024) and Gateway to Pharmacogenomics for Pharmacy Staff (running 18 - 22 Mar 2024).

What is Big Data? Demystifying the use of patient health data in research

How does clinical research use our data? Is it necessary? And how safe is it? This session on Tuesday 6 December is part of a series on a new research study called DEMISTIFI which is developing ways to understand fibrosis - including genetic factors - which causes scarring of the internal organs and can stop them from working properly (the cause of about one third of all deaths world-wide). 


For more information about Research Lounge events run by the R&I team at Nottingham University Hospitals please see here.

Dates for your diary

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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