September 2024

Welcome to the September edition of our regular newsletter, featuring genomics news, updates, events and training opportunities, including the latest updates from the central NHS Genomic Medicine Service team, and Health Education England's Genomics Education Programme.

We hope you find these updates useful, along with the regular updates we make to our website and social media accounts. To suggest items for future editions, or to discuss ideas for developing communications or engagement within your Trust, please get in touch: i.kingsbury@nhs.net.

Here's a rundown of what we have for you this month:

• Read the full story here.
• See also our Pharmacy session on this subject in October

World’s first gene editing therapy for blood disorder to be available to hundreds of patients in England

Patients in England with severe beta-thalassaemia will be amongst the first in Europe to benefit from one-time gene therapy exagamglogene autotemcel.

Exagamglogene autotemcel (“exa-cel”, also called Casgevy) is now recommended in final NICE guidance for people 12 years and over with severe beta-thalassaemia who need regular blood transfusions to manage their condition, when a blood and bone marrow transplant is suitable but no donor is available. 

Exa-cel is the world’s first CRISPR-based gene therapy as well as being the first gene therapy available in Europe for treating severe beta-thalassaemia. Beta-thalassaemia is an inherited blood disorder caused by a genetic mutation that reduces or prevents production of healthy red blood cells and haemoglobin. In the UK, the condition mainly affects people of Pakistani, Indian and Bangladeshi ethnic origin... Read more here.

With 23 clinical genetics departments in the UK, each covering its own distinct geographical area, it can be difficult to know which one to refer your patients to, especially if you are on the border between regions.

• Genomic tests ordered by clinicians who are seeing patients at NHS Trusts in the East Genomics region should be directed to an East GLH laboratory (Cambridge, Nottingham or Leicester).
• For some clinical services close to the boundary of the East Genomics region, referrals for patients to see clinical genetics departments should follow your usual clinical pathway, which might be outside of the East Genomics area.

See our website for further information. NHS England has produced an interactive map to find the location, referral information and contact details for clinical genetics departments across the UK. You can access the interactive map here.

The circulating tumour DNA (ctDNA) pilot study aims to evaluate how liquid biopsy testing can be brought into an established NHS cancer pathway – supporting faster diagnosis and targeted treatment options for patients with lung cancer. You can find out more about the ctDNA project, including all the documents, protocols and resources needed to begin testing within your service, on our website here.

There are a number of health awareness dates in September which have an obvious link with genetics and genomic testing. September is the awareness month for a range of cancers including Blood Cancer, Childhood Cancer, Ovarian Cancer, Gynaecological Cancer, Thyroid Cancer, Hereditary Cancer and Urology Cancer, as well as many rare and inherited conditions including Hirschsprung Disease (R177), Leukodystrophy (R62), Immune Thrombocytopenic Purpura, Sickle Cell (R362, R94, R372), Polycystic Kidney Disease (R193) and Pulmonary Fibrosis (R421).

• Healthcare Science Associate
  Band 3, Cambridge University Hospitals NHS Foundation Trust
  Application deadline: 19 September 2024 23:59

• Healthcare Science Practitioner (Specimen Reception)
  Band 4, Cambridge University Hospitals NHS Foundation Trust
  Application deadline: 19 September 2024 23:59

The British Society for Genetic Medicine has issued Managing incidental findings: guidance for rare and inherited disease diagnostic genomic testing. This guidance has been developed to support clinicians requesting genomic tests and scientists working in genomic laboratories within the NHS. It provides a framework for the reporting of incidental findings with case examples and a cancer susceptibility gene list. Decision-making in accordance with guidelines will achieve greater consistency than case-by-case decisions. Please see also our session on this subject from our East Paediatric Genomics Forum in July of this year.

The National Genomic Test Directory for Rare and Inherited Disease has been updated. New tests have been added and tests amended. Changes have also been made to individual Clinical Indication eligibility criteria. The full change log is provided as a table in the back of the Rare and inherited disease eligibility criteria PDF document.

Please review the updates on our website, alongside the published Test Directory documents, to ensure you are aware of any updates that may affect your practice. The changes to the Rare and Inherited Disease Test Directory will be implemented across the Genomic Medicine Service laboratories over the next 3 months.

Please also note a recent communication on changes to Renal tests in the Rare and Inherited Disease Test Directory which you can read on our clinician updates web page.

To receive relevant updates, including changes to the test directory, please ensure we have your current details via our contact list sign up form.

• Nottingham loop: Contact Hazel Dinning Hazel.Dinning@nuh.nhs.uk
• Cambridge loop: Contact Jade Doughty jade.doughty@nhs.net

Monogenic Diabetes in Maternity - educational and networking event

Launch of NEW Monogenic Diabetes within Maternity Services e-learning

East Prenatal & Paediatric Genomics Forum

The Generation Study Workshop

If you are a Specialist Paediatric clinician at Nottingham University Hospitals, University Hospitals of Derby and Burton or University Hospitals of Leicester then you are invited to our Generation Study Workshop on Friday 20 September. There will be a short presentation from representatives of Genomics England's Generation Study, David Bick (Principal Clinician, Genomics England) and Christine Cavanagh (Regional Operations Lead, Genomics England). Register your interest here.

Our next East Pharmacy and Medicines Optimisation Working Group takes place on Friday 18 October and will provide a regional update following the publication of NICE Guidance DG59 (CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attacks). If you work in Pharmacy or Medicines Optimisation you can find out more and register your place here.

If you are a midwife working in the East Midlands or East of England and your role involves genomic testing - or you would like to join a community of practice to learn more about how genomic medicine can benefit your patients and service - join us for our regular series of Regional Midwives in Genetics and Genomics Network events (RegMiGGs.net).

Register your interest by emailing egmsa@nnuh.nhs.uk with the subject line 'RegMiGGs.net' and we look forward to seeing you at our next session on Wednesday 23 October at 12pm.

Central and South GMSA have a number of education sessions over the coming months:

• 24 September: Cancer & genomics: what healthcare professionals need to know
• 2 October: Rapid prenatal exome sequencing service (R21) educational MDT
• 17 October: Finding the missing 95%: Lynch Syndrome for Primary Care teams
• 22 October: Finding the missing 95%: Lynch Syndrome Project Educational and Networking event

• 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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