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East Genomics Newsletter

December 2022

Welcome to this festive edition of the East Genomics newsletter in which we share updates from the East Genomic Laboratory Hub (East GLH) and the East Genomic Medicine Service Alliance (East GMSA).

As genomic testing is becoming more mainstream, we welcome feedback on this newsletter and suggestions on what you would like included or shared via other channels. Please do drop us an email.

Over £175m for cutting-edge genomics research to help boost diagnosis and treatment

Patients with cancer and children born with treatable rare genetic diseases are set to benefit from earlier diagnosis and faster access to treatment, following a £175 million boost to cutting-edge genomics research announced by the Health and Social Care Secretary. Find out more here.

Play Domino Talk Health events tackle prostate cancer health inequalities

Members of the Afro-Caribbean community were invited to a Church in Nottingham on Monday 5 December to take part in a Play Domino Talk Prostate event run by our United Against Prostate Cancer (UAPC) project team. They heard talks from Dr Bola Owolabi, Director of Health Inequalities at NHS England, Julian Barwell, Consultant Clinical Geneticist at University Hospitals of Leicester and Bria Mcallister, Urology Nurse Practitioner at Nottingham University Hospitals, followed by Caribbean food and very lively games of Domino!


The idea behind the events, which were originally developed by the late Pamela Campbell-Morris and Leicester’s Centre for Ethnic Health Research, is to raise awareness of the increased risk of prostate cancer among African and African-Caribbean men, who have a 1 in 4 chance of developing it compared to 1 in 8 for white men, and 1 in 13 for Asian men.


Reflecting on the event Dr Owolabi said: “Who would have thought it? A humble Domino board acting as community convening tool, raising awareness of prostate cancer and engaging communities in Genomics conversation”. Before the event on Twitter Julian Barwell reflected: “So proud of the UAPC project. Apart from training community champions and outreach events, I am delighted to announce that BRCA testing of prostate tumours is now established. We are now finding mutations, potentially important for patients and their families. This is a big step forward”.


Earlier the same day Dr Owolabi visited the labs at University Hospitals of Leicester where tissue samples are prepared before being sent to our Genomic Laboratory Hub in Cambridge where colleagues look for gene changes that could indicate an increased risk of prostate cancer. Dr Owolabi praised the “hard work colleagues do to get high quality results and treatment to people in a timely manner”.


To find out more about the project email Programme Manager Jo Lowry.

New Familial Hypercholesterolaemia Information Zone

We have added information, guidance and resources to our website to support healthcare professionals in the the early detection and management of patients with Familial Hypercholesterolaemia (FH) in the East Genomics region. Some of the areas covered by our new FH Information Zone include:

  • Identifying Patients with FH
  • Genetic Testing Pathway and Case Finding projects
  • Lipid Clinics in the East Midlands and East of England and guidance on lipid management
  • Educational resources for healthcare professionals and resources for patients and families
  • FH Diagnostic Genetic Testing and Cascade Genetic Testing
  • Consent discussions about Genetic Testing
  • Research Opportunities

The new pages can be found on our website here. If you have any feedback or questions about these pages, or would like more resources or support for other genetic conditions, please email our Comms Leads Lorna Hamblin or Ian Kingsbury.

National Genomic Medicine Service (GMS) Panel App

The GMS PanelApp panels that went live in April 2022 are now visible in the GMS PanelApp. This resource allows you to view the signed off panels that relate to genomic tests listed in the NHS National Genomic Test Directory. They can also be downloaded from the main PanelApp page as the latest signed off version.

Cambridge Genomics Laboratory update

Samples over the Christmas period: The Cambridge Genomics Laboratory opening hours and deadline for samples over the Christmas and New Year bank holidays are now listed on our website.

Move to NHS.net emails: Cambridge University Hospitals NHS Foundation Trust has now moved to NHSMail. If you do not have an nhs.net email address for your contact person, please do get in touch with our general email address and we will be in touch to support you. 

Genomics in Nursing and Midwifery Conference success

Over 70 nurses and midwives from many job families and grades came to Leicester on 22 November for our first Nursing and Midwifery conference.


Delegates came from 20 NHS Trusts and five Universities, and represented a broad range of job roles from CNSs, midwives, research nurses and nurse consultants, to Ward Managers, Deputy Chief Nurses and Heads of Midwifery.

You can see the slides for the keynotes and Nursing session here and the Midwifery session here. Recordings of our Keynote speakers and Nursing parallel sessions will be added to our YouTube channel shortly. You can subscribe to our channel here.

Our East GMSA Patient and Public Voice (PPV) Panel is seeking additional members to join the existing membership of 7. We are interested in hearing from anyone who has, or who cares for someone who has undergone a genetic test in the past 3 years. We are keen to increase diversity and representation on the panel, and so are particularly keen to hear from anyone who:

  • Is between 20 and 40 years of age
  • Is from a Black, Asian and Ethnic Minority background
  • Identifies as LGBTQI+
To find out more or to apply, please contact Ian Kingsbury.

Recent research

Call for wider genetic testing for children with brain tumours

A team of doctors at Addenbrooke's have highlighted how a simple test improved the diagnosis and treatment of a young girl with a brain tumour caused by a rare condition. The recently published research calls for Immunohistochemistry to be used more widely as a quick diagnostic test, and comprehensive genomic tests can then be ordered to enable confirmation and further detail. Read more here.

Dates for your diary

Festival of Genomics 2023

Wednesday 25 January - Thursday 26 January 2023

London N1 0QH

 

The 8th annual Festival of Genomics is the largest genomics event in the UK and takes place at the Business Design Centre in Islington, London. It will cover the entire genomics workflow end-to-end, as well as how genomics data is integrated with forms of biodata to help you make meaningful research and clinical decisions. View the event website.

National nursing workshop: From diagnosis of cancer to diagnosis of Lynch syndrome

Monday 19 December, 12 - 1pm


Register here to hear from Laura Monje-Garcia (National Lynch Syndrome Project Lead Nurse, North Thames GMSA), Tracie Miles (Associate Director of Nursing and Midwifery, South West GMSA), and your regional Lynch syndrome nurse/s to find out more about the testing pathway, role of the nurse, and mainstreaming germline genetic testing in routine oncology clinics. 

Quick links

The December bulletin from Genomics Education Programme (GEP) can be viewed here.

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 lorna.hamblin1@nhs.net 


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