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March 2024

With Spring very much in the air, we bring you lots more news, updates, events and training opportunities this month. 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

  • High cholesterol identification service screens 100th patient
  • Macmillan Genomics toolkit launched
  • Rare Disease Day 2024
  • Gene editing hope for hereditary disorder
  • Genomics Conversation Week
  • Article: Are Midwives ready for the Genomics Era?
  • New podcast: The Road to Genome

Laboratory updates

  • Easter Bank Holiday arrangements
  • Test Directory Update - R445
  • Healthcare Science Week
  • Updating National Test Directory

Events, education and training

  • Genomics BITEs - R445 testing pathway and pharmacogenomic testing prior to aminoglycoside use
  • Pharmacogenomics event
  • East Prenatal Genomics Forum
  • East Paediatric Genomics Forum
  • Genomics Training Academy
  • Lynch Syndrome event, April
  • Lynch Syndrome and Genomics webinar
  • Colorectal cancer genomics webinar

Quick links

Contact us


Please do get in touch with us with any queries, suggestions for future editions or requests for support. 

News and updates

FH Identification service screens 100th patient

We're pleased to report that the team behind our Familial Hypercholesterolaemia (FH) identification service have screened their 100th patient this month. We are working with primary care across Norfolk & Waveney to communicate about the service to GPs and patients.


If you work at Norfolk and Norwich University Hospitals you may have spotted the team (Shelina and Javier) on page 9 of the latest PULSE magazine. You can read more about the project on our website and a news article from October on our progress here.

Macmillan Genomics toolkit now live

Macmillan Cancer Support have released a new Genomics Toolkit which has been developed in collaboration with patients, NHS professionals and the NHS England Genomics Medicine Service. 

Healthcare professionals can find education resources, pathway guidelines, clinical documents, patient support information and case studies all in one place, to support them in embedding genomics in cancer pathways and their practice by tumour site.


Breast cancer is the first tumour site available, to be followed by colorectal and gynaecological cancers. Later in the year, lung, prostate and haematological cancers will also go live.

Rare Disease Day 2024

Many thanks to everyone involved in raising awareness on Thursday 29 February for Rare Disease Day. We've included some highlights in the image below, including the hundreds of conversations we were able to have with patients and staff on our information stands at our Cambridge, Nottingham, Norfolk and Leicester NHS Trust partners. We've also included some links to videos we produced for Rare Disease Day. 


If you want to find out more about requesting genomic testing for rare diseases, 

the NHS England Genomics Education Programme is beginning a new run of its popular, practical online course Genomics in the NHS: A clinician’s guide to genomic testing for rare disease. For East region testing information and resources see our Rare and Inherited Disease web pages.

Gene-editing hope for hereditary disorder

A group of patients with a hereditary disorder affecting one in 50,000 people have had their lives transformed by a single treatment of a breakthrough gene-editing therapy, a study reports. 

The patients from the UK, New Zealand and the Netherlands have hereditary angioedema, a genetic disorder characterised by severe, painful and unpredictable swelling attacks. These interfere with daily life and can affect airways and prove fatal. The research study involves the Allergy and Immunology Team at Addenbrooke's Hospital, Cambridge. Read the full story.

Have you been on a professional genomics journey?

The annual #GenomicsConversation campaign returns 24-28 June 2024, and will feature stories and activities that reflect the genomics journeys of NHS professionals and patients, as well as looking at the impact this has had on clinical care – and the direction of travel in the future. 

Day two of the week will focus on health professionals who have embraced genomics in their role over the last 10 years. Were you inspired by a course in genomics, then changed your career path? Did you stumble upon genomics by accident? If so, we’d like to hear from you. We are looking for healthcare professionals who would be happy to share their journey into genomics with us, which we can then share as case studies during the campaign week. If you would like to tell your story, or would like to find out more, please contact Ian Kingsbury.

Are Midwives ready for the Genomics Era?

Our Midwifery Lead, Jo Hargrave, recently wrote an article for the Maternity and Midwifery Forum website, in which she highlights developments around genomics and how midwives and students need to keep up-to-date in order to provide appropriate information and care.

You can read Jo's article on our website here.

Podcast: The Road to Genome

The Road to Genome is a new podcast series from North East & Yorkshire Genomic Medicine Service, that delves into the rapidly evolving world of genomics in healthcare. 

 

The first series focusses on a range of patients and clinical experts who  share their personal stories to provide an understanding of the science behind genomics.

The series will also uncover the different, sometimes unusual, routes healthcare professionals have taken during their careers - with a view to inspiring others into the world of genomics. Most importantly, the podcast provides insights into the emotional roller coaster experienced by patients undergoing genetic testing, diagnosis and treatment. The series is available on all podcast platforms, and the NEY GMSA website.

Laboratory updates

Easter Bank Holiday arrangements
The CUH Genomics laboratory will be delivering a reduced bank holiday service during the Easter bank holiday weekend. Please see our website here for full details, including information on the Haemato-Oncology Service and DPYD reporting Turn Around Times (TATs).
R445 Common Aneuploidy Testing

The National Genomic Test Directory has been updated to include R445: common aneuploidy testing – NIPT. See our website for further details. For more information on when this service and resources will be available in Trusts you cover, please contact the antenatal screening or fetal medicine teams directly.


We are running a Genomics BITE session on 20 March on R445 (see below).

Happy Healthcare Science Week!

Healthcare Science Week (11-15 March 2024) brought together over 50 scientific specialisms and professional groups to celebrate and raise awareness of this diverse NHS workforce. 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 has a lot in common with that of a detective. This profession 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 more about Saranja and her work on our website here.

Updating the National Genomic Test Directory for 2024/25 – application submission deadline

The application window for the receipt of applications for the 2024/25 update to the National Genomic Test Directory closes 1 April 2024.  Applications, which do not meet the Fast-Track criteria, will be subject to the below evaluation process:

  • Applications reviewed by NHS England and Test Evaluation Working Groups
  • Impact assessment with Genomic Laboratory Hubs 
  • Assurance and governance approvals
  • 1 January 2025 Genomic Laboratory Hub implementation starts
  • Test Directory published and Genomic Laboratory Hubs implement changes 1 April 2025

Applications that meet the Fast-Track criteria will be considered at any point throughout the annual process. The process for submitting a Fast Track application is detailed in the ‘Fast Track process’ on the NHS England website.

Events, education and training

Genomics BITE: R445 Testing Pathway

The R445 pathway is a new addition to the National Testing Directory and is expected to be implemented into maternity services by 1 April 2024. The speakers will provide an overview of this pathway and practicalities for colleagues in the East of England and East Midlands.


It will cover:

  • R445 testing pathway and eligibility
  • An overview of non-invasive prenatal testing (NIPT)
  • Practicalities and Resources
  • Experiences in practice

SAVE THE DATE!
On World Hearing Day we announced an upcoming 16 April session on pharmacogenomic testing prior to aminoglycoside use. Full details will to be confirmed, but for now please register your interest here.

     

East Paediatric Genomics Forum

Our next Paediatric Genomics Forum takes place on Thursday 28 March at 12.30pm. Join Community Paediatrician Dr Tracey Davis to find out 'How surprise results from genomic testing have influenced my practice'. The session will also cover:

  • Microarray as a genomic test; the consent conversation I have
  • The importance of a microarray; reasons why I request this test
  • Using information from Unique (rarechromo.org) as a clinician and to support parents
  • Types of microarray used in the East Genomic Laboratory Hub; array CGH and SNP arrays

     

East Prenatal Genomics Forum

This month over 60 healthcare professionals - including midwives, consultants, clinical scientists, genetic counsellors, antenatal and newborn screening leads and many more - attended our first ever Prenatal Genomics Forum on the subject of Genomic Testing in Fetal Medicine: Clinical and legal implications of missed diagnosis.


Resources for the Prenatal Genomic Forum - including meeting recordings and slides - have been added to our FuturesNHS workspace. Anyone with an NHS email address can request access to this workspace.


The next Prenatal Forum on 14 June 2024 will look at Prenatal genomic testing opportunities: Lessons learnt through case studies. You can register your place here.

     

Pharmacogenomics event

Our counterparts in the South East are hosting a session on Pharmacogenomics on 19 March which covers Implementing pharmacogenomics in the NHS; the new Pharmacogenomics & Medicines Optimisation Network of Excellence; Implementing a Point of Care Pharmacogenomic Test to Reduce the Risk of Ototoxicity with Aminoglycosides and Optimising Psychosis Therapy with Genomics.


Find out more and register your free place here.

     

Coming soon: Genomics Training Academy (GTC)

The national Genomics education Programme (GEP) are developing an online learning hub for the specialist genomics workforce. The Genomics Training Academy (GTAC) has been set up to provide training and education to the specialist genomics laboratory and clinical workforce, including bioinformaticians,  counsellors and genetic technologists. Find out more on the GEP website.
     

Lynch Syndrome event

We still have online places for our Lynch Syndrome event on 22 April 2024 which is aimed at people with a diagnosis of Lynch Syndrome (LS) and healthcare staff with an interest in LS. People can attend in-person at the Motorpoint Arena in Nottingham, or virtually online. You can register your free place here.

On Saturday 23 March national charity Lynch Syndrome UK are holding their annual conference at the University of Warwick. Find out more and register your place here.

     

Lynch Syndrome and Genomics webinar

Ahead of Lynch Syndrome awareness day this Friday 22 March, North East and Yorkshire GMSA are running a lunch-and-learn webinar tomorrow (Tuesday 19 March) with Professor Sir John Burn. The session will cover:
  • What is Lynch Syndrome and just how common is it?
  • What do mainstream colleagues need to know about Lynch, and why is it so important that they are involved?
  • What is the best way to screen and treat this group of patients?
     
Colorectal cancer genomics webinar: from biopsy to personalised cancer care
17 April 2024, 4pm - 5.15pm, Online

Join our colleagues at North West GMSA for this short webinar, to hear from key speakers including Professor James Hill, Dr Michael Braun, Grace Berry, and Glenda Beaman, who will be discussing topics including: From biopsy to genomic result Clinical benefits of genomic testing Optimising testing Q&A session. Register your free place here.

Quick links

Contact us

  • Enquiries regarding any specific genomic tests should be directed to East Genomic Laboratory Hub (East GLH) at cuh.geneticslaboratories@nhs.net
  • 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 egmsa@nnuh.nhs.uk

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