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April 2023

As we move into Spring we wanted to bring you the latest round of news, updates and education and training opportunities from us as well as from NHS England's Genomics Medicine Service, Health Education England's Genomics Education Programme and others.

We welcome feedback on this newsletter and suggestions for what you would like to see more of to help you in your roles and teams. Please email us here.


Register for our Showcase event!

With under a month to go until our Genomics Showcase in Peterborough, we're pleased to say we have over 90 registrations, although places are still available. You can see our agenda and speakers on our event website, plus register your free place.


It promises to be a great event with Professor Dame Sue Hill kicking off the day, a host of expert patients and clinicians delivering sessions on a range of cancers and medical and rare conditions, plus special guests for our afternoon Panel Q&A including Alistair Kent OBE and senior colleagues from the East Midlands Cancer Alliance.


We're also delighted to welcome Cambridge Rare Disease Network, the Genomic Education Programme, Genomics England and others who will host information stands at our showcase marketplace. Register your free place today.

Hear from experts including Professor Dame Sue Hill (Chief scientific Officer for England and Senior Responsible officer for Genomics in the NHS) and Alistair Kent OBE FRSA (Executive Director, Genetic Alliance UK for 25 years, now Chairs UK Rare Disease Stakeholder Forum (DH&SC) & Rare Diseases Advisory Group (NHSE).

News and updates

Rare Disease Day 2023

On 28 February we took part in lots of on- and offline activities in partnership with Cambridge University Hospitals, Medics4RareDiseases and the Cambridge Rare Disease Network. Here are some highlights:

  • Story of the Gapp family and their long 'diagnostic odyssey' before receiving a diagnosis through Whole Genome Sequencing (WGS).

    • We helped facilitate a CUH session for clinicians on rare disease.
    • #ShowYourStripes saw many of our lab staff wearing stripey socks in support of Medics4RareDiseases awareness raising push (below).
    • We featured on pages 16-17 and 27 of Rare Fest 2022 - In Review which took place back in November. 

    • We worked with Cambridge University Hospitals to tell the story of the Cross family whose son, Rory, is only the 2nd person in the UK and the 13th in the world to be diagnosed, following genetic testing, with the extremely rare Chitayat Syndrome. Read the full story here.

    Genomic Testing for Rare Disease

    On Rare Disease Day, the Genomics Education Programme (GEP) launched its new online course: Genomics in the NHS: A Clinician’s Guide to Genomic Testing for Rare Disease. This free two-week course takes clinicians through the process of using the test directory, ordering tests, and feeding back results to patients. The UK Government also used Rare Disease Day to launch their Rare Disease Action Plan for England.

    Genomics England Newborn Genomes Programme

    Every day, 9 babies in the UK are born with a rare genetic condition that could be treated, prevented, or even cured if it had been diagnosed when those babies were newborns. 
    The Newborn Genomes Programme is aiming to find out if this situation can be changed through a 3-part research study which will begin in a selection of NHS Trusts in 2023. See this one sheet summary or find out more on the Genomics England website. 


    If you are a midwife and would like to find out more about the Newborn Genomes Programme please contact our Lead Nurse Vicky Carr to receive information about an upcoming engagement event.

    National Genomic Test Directory: April 2023 updates

    New tests and amendments have been added to the National Genomic Test Directory as part of the April 2023 update. The changes are indicated in column 'H' of the Test Directories. The Test Directory specifies the genomic tests commissioned on the NHS in England, the patients eligible and the technology used. There are currently tests covering 3200 rare diseases and more than 200 cancer indications. If you have a question or want to find out more about the Test Directory, please email england.testevaluation@nhs.net.

    East Genomics on the road

    It's been a busy few months for our project teams, education and training leads and lab staff who have been out and about at various engagement and education events to bring our work to a wider audience. Some of the highlights include:

    • Cambridge University Hospitals Life Sciences Careers Fair
    • British Association of Paediatric Nephrology annual conference
    • Prostate Cancer awareness event at Leicester City FC (pictured)
    • Cambridge Science Festival (pictured)
    • Breast Cancer Now Facebook Live talk
    • Eastern AHSN CVD Primary Prevention Day
    • East of England Healthcare Science Conference

    If you would like us to deliver a webinar, session, or talk around any aspect of genomic medicine - from specific conditions, patient consent, how the testing process works etc. - within your team or service, please contact Ian.Kingsbury@nuh.nhs.uk with a brief outline of the audience and what you would like us to cover.

    We're looking for two new Cancer Leads

    Could you set strategic direction and lead on cancer-related genomic activity for the East Midlands OR East of England? We're recruiting two Cancer Leads, both fixed-term secondments at 2 PAs (0.2fte). You can find the job description here. To apply please send a summary CV and covering letter to Kerry Tucker (Medical Staffing, CUH): Kerry.tucker1@nhs.net with “Application for Cancer Lead of the East Genomic Medicine Service Alliance (GMSA)” as the subject line.

    There's an App for that...

    East Genomics is involved in the development of two new apps. We will update you on their progress and phased roll-out via this newsletter, our website and social channels (so please do follow us!).

    Professor Julian Barwell at UHL 

    is leading a project with Instant Access Medical Ltd to develop a mobile App for Lynch Syndrome. It will empower patients to participate directly in their care to prevent complications, personalise health and well-being plans, and improve their outcomes.  

    The project is supported and co-developed by Lynch Syndrome patient champions and Lynch Syndrome UK, and is informed by patient questionnaires through IPSOS-MORI, the global market research company.  The App will be tested with Lynch Syndrome patients at the UHL Clinical Genetics Service over the next month or two, before a phased roll-out nationally for all carriers of Lynch Syndrome to help them navigate the NHS on a day-to-day basis.

    QGenome is a clinical decision support tool which provides genomic referral, risk assessment and testing guidance for clinicians in an easily accessible user-friendly format.  Upon registering, users are asked to choose their GMSA (Genomic Medicine Service Alliance) depending on the location of their organisation or clinical practice.
    We are in the final stages of testing the East GMSA content and will be rolling out the App across the East Midlands and East of England over the coming months.

    Laboratory updates

    Our Laboratory Hub Survey still open

    Last year within the East Genomic Laboratory Hub (GLH) a large number of new tests were developed and efficiency improvements were made. If you have previously ordered genomic tests from East GLH (this includes our Laboratories at Cambridge, Nottingham and Leicester) we would welcome your feedback on our service over the last 12 months. Responses to this survey will help us understand where we can focus improvements. Take the survey here.

    Events and training

    Genomics BITE: Lynch Syndrome, the hidden cause of many cancers

    Lynch Syndrome is the cause of many cancers, including colorectal, ovarian, gastric and prostate among others. An estimated 175,000 people have Lynch Syndrome in the UK but fewer than 5% of individuals know they have the condition. 


    On 26 April we’re holding a one hour CPD session for nurses and midwives who want to find out more about Lynch Syndrome and genomics. Our guest speakers Vicki Kiesel (East Midlands Lynch Syndrome Lead), Kirstie Williams (Gynae Oncology Clinical Nurse Specialist, NUH) and Leanne Barrett (mum living with Lynch Syndrome) will between them address:

    • What is Lynch Syndrome?
    • What is it like living with it, knowing you have an increased risk of cancer?
    • Effects on reproductive choices
    • How healthcare teams can support patients
    • Finding the 'missing 95%'

    Register your free place here. 


    See also a video featuring our Cancer Lead Lizzy Smyth on how genomic testing can help Lynch Syndrome Patients.

    In case you missed it, you can watch a recording of our Kidney Genomics BITE session held on 14 March 2023 and delivered by Eduardo Lee (Renal Genetics Nurse Specialist, Guy's and St. Thomas' Hospital) and Tess Harris (PKD Charity CEO and ADPKD Patient).
         

    National Genomics Education Team are recruiting

    The National Genomics Education Team are advertising for two roles within their Genomics Training Academy (GTAC):

    The GTAC is an innovative national initiative, led by NHSE's Genomics Education and Genomic Unit teams with support of the wider system, to provide education and training to the specialist genomics workforce.  Applications for the above roles must be received by 18 April 2023. Further information on the GTAC can be found here

         

    March, the month of genomics!

    The Genomics Education Programme (GEP) hosted a ‘month of genomics’ campaign throughout March in partnership with the Royal College of Obstetricians and Gynaecologists (RCOG), Royal College of Midwives (RCM) and Royal College of Paediatricians and Child Health (RCPCH).


    Each college created a range of activities in genomics to share with their membership with the aim of increasing awareness and understanding its relevance to their role.  You can see these on the RCOG and RCPCH websites.


    The GEP also launched a new educational webpage for paediatricians, developed in partnership with the RCPCH. Genomics in Paediatrics provides a broad understanding of genomics and its relevance in practice, and includes educational tools, case studies and resources for paediatricians.

         

    Funded UWE course

    Nurses, midwives, health visitors, GPs and other patient-facing NHS colleagues can learn about genomics in healthcare with this part-time and online University of West of England course. 

    The course has been designed for learners with no previous knowledge of genomics and will provide an introduction to the key areas of genomics, human genetics, and genetic variation in the fields of cancer, rare genetic conditions and infectious diseases. Participants will get a framework of learning to apply knowledge gained from experts into their own work practice.

     

    The application deadline is 22 May and the course begins on 11 September 2023. Funded places are available.  Find out more and how to apply here.

     

         

    Working with People and Communities to Improve Health Outcomes

    This course from the Public Participation Team at NHS England looks at why it’s important to work with people and communities; how we can successfully involve marginalised communities; and how to overcome some of the challenges to working with people and communities that health and care professionals can face. You can sign up here.  See also NHSE's Communications and Engagement Toolkit for Socio-Economically Deprived Areas.

    Quick links

    Contact us

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

    You can follow us on Twitter or LinkedIn. To share future newsletter content or suggestions please email ian.kingsbury@nuh.nhs.uk


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