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This month we're focussing on our Genomics Showcase events in July. Below you can find links to full agendas, with speakers, for our Cancer Showcase (Monday 8 July), Rare and Inherited Conditions Showcase (Wednesday 10 July) and Prenatal and Paediatric Showcase (Thursday 11 July). All three are online half day events and run from around 9.20am to 1.30pm.
We also bring you all the usual genomics news, updates, events and training opportunities. 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 - Register for our July Showcases
- National Genomic Test Directory survey
- Introducing our Pharmacy newsletter
- M4RD launch 'red flags' report
- New report on lack of diversity in genomic research data
- Our 'Little Book of NHS Genomic Testing'
- Latest 'Road to Genome' podcast
Laboratory updates - New East GLH Scientific Research Director
- Update on sample requirements for rare and inherited disease testing
| | Events, education and training
- Genomics BITE: Sudden Cardiac Death
- Next East Prenatal Genomics Forum
- Cervical Cancer Educational webinar
- Genetic testing: how to request this for your patients
- Genomics at NHS Confed Expo
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| Join the 180+ people who have already registered their place at our July Showcases | |
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This year we are running three online half-day Showcase events in July 2024 covering Cancer, Rare and Inherited Conditions and Prenatal Medicine and Paediatrics. - Our Cancer Showcase takes place on Monday 8 July 2024
- Our Rare and Inherited Conditions Showcase takes place on Wednesday 10 July 2024
- Our Prenatal and Paediatric Showcase takes place on Thursday 11 July 2024
Full agendas and speakers are now available on our events website (or click the images below) where you can register your free place. Please indicate which showcase(s) you would like to attend when registering, and do share our registration link with colleagues in your service. | |
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Genomic Test Directory survey closes 21 June | |
NHS England's Genomics Unit is inviting you to participate in a brief survey regarding your experience with the National Genomic Test Directory. To participate simply click here to open the survey or scan the QR code. The survey is due to close on 21 June 2024. | | | |
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We've launched our Pharmacy and Meds Optimisation newsletter | |
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We are pleased to share the first edition of our Pharmacy & Medicines Optimisation newsletter, to help us update medicines optimisation and pharmacy teams in the East Genomics region on the work of the Genomic Medicine Service Alliance. This is of growing importance as we increase the use of genomics in the NHS, including how this impacts on medicines use. You can now view the first issue of the NHS East Genomics Pharmacy and Medicines Optimisation Network newsletter here. Produced by Paul Selby (Consultant Pharmacist in Genomics) and Aris Saoulidis (Clinical Pharmacy Lead), this first edition includes an overview of local and national pharmacy, pharmacogenomics and medicines optimisation projects, resources from a recent session on pharmacogenomic testing prior to aminoglycoside use, a save the date for our inaugural Pharmacy & Medicines Optimisation Working Group Forum, and more besides. To ensure you receive future editions, you can sign up to the East Genomics mailing list here. | |
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Healthcare education charity Medics4RareDiseases have released a new report that identifies seven red flags, or clinical clues, that point to a patient having an underlying rare condition.
Back in 2018, M4RD worked with rare disease patients, carers, clinicians and advocates to co-create a survey to investigate the commonalities of rare disease. | | | |
Patient advocacy groups were then invited to complete the survey and the results have been used to deduce a list of ‘red flags’ that can be used to help identify patients with underlying rare conditions. The red flags are:
🚩 Multi body-system involvement
🚩 Genetic inheritance patterns
🚩 Continued presentation through child and adulthood
🚩 Difficulties at school (e.g. relating to physical education and absences)
🚩 Multiple specialist referrals
🚩 Delayed diagnosis
🚩 Misdiagnosis
You can read the full report here. | |
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| New report reveals solutions to lack of ethnic minority communities in genetic research | |
Black, Asian and ethnic minority communities are poorly represented in genetic medicine research, a new report has found.
Produced by a team at the University of Nottingham, and published by the NHS Race and Health Observatory, the report findings include a lack of trust and targeted engagement by health commissioners, regulators and researchers. | | | |
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Our 'Little Book of NHS Genomic Testing' | |
If you've seen us out and about at events you may already have a copy of our 'Little Book of NHS Genomic Testing'.
A small booklet (a little bigger than a credit card), it's intended to be your handy one-stop shop for all things genomics, including: - links to education and training
- requesting genomic testing
- key contacts for East Clinical Genetics Services and Genomic Laboratories
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patient information and support.
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Launch of the East of England Cancer Alliance Regional Genomic Clinical Practitioner Service | |
This month the East of England Cancer Alliance launched a two-year programme that will place a team of nurses – ‘Genomic Clinical Practitioners’ – who will work across the East of England. Their role will include the embedding of pathways, supporting clinical teams and providing timely information and guidance to enable a seamless service user pathway across cancer specialties including primary care
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| Latest episode of GMSA Genomics Podcast is here | |
Our friends in the North East and Yorkshire have released the latest episode of their Road To Genome podcast, which boasts a fascinating talk with Consultant Clinical Scientist Dr Polly Talley about her path into the world of genomics and her work on blood cancer. You can listen to all episodes here, or wherever you get your podcasts. | | | |
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| Tom Burr appointed as East GLH Scientific Research Director | |
Welcome to Tom Burr who has joined the team as East Genomic Laboratory Hub (GLH) Scientific Research Director. Tom’s background is in Biochemistry and Molecular Genetics. | | | |
After post-doctoral positions in the US and UK he joined Source BioScience where, as Chief Scientific Officer, he was responsible for R&D, Clinical Trial Services and Quality Assurance in the Genomics and Pathology divisions.
Tom says: "I’m excited to join the GLH and grateful to everyone for the warm welcome. Although I will regularly be at the CUH site, my role covers the whole of the East Genomics region. Living in Nottingham means I will have the chance to meet and spend time working alongside the teams at all three laboratories."
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| Update on sample requirements for rare and inherited disease testing | |
Please note, regarding rare and inherited disease testing sample requirements, our laboratory is unable to accept blood samples or saliva samples from patients who have received a heterologous bone marrow transplant (BMT), due to the presence of donor DNA. In these patients, a buccal swab sample or a skin biopsy should be referred. Please contact the laboratory for further advice on sample requirements. Read more guidance on sample requirements on our website. | |
Events, education and training | | |
Genomics BITE: Sudden Cardiac Death
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Tuesday 25 June, 12pm - 1pm, via MS Teams
We are delighted to welcome guest speaker Chloe Ferguson, Clinical Nurse Specialist in the Inherited Cardiac Conditions Service at University Hospitals of Leicester, who will lead our upcoming session on Sudden Cardiac Death.
The session will cover: - Sudden Cardiac Death - spotting the signs, including genetic causes
- Genetic testing for SCD available on the National Genomic Test Directory
- The role of the Inherited Cardiac Condition (ICC) Nurse
- A patient case study
Register your free place here and please bring along any questions you might have about SCD, genetic testing and ICC services, and share this with colleagues who may be interested. | |
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East Prenatal Genomics Forum | |
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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. | |
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Surrey and Sussex Cancer Alliance Collaborative Cervical Cancer Educational webinar | |
Wednesday 26 June 2024, 12pm - 2.30pm
A session that is open to anyone interested, organised in collaboration with NHS Sussex, Frimley Health and Social Care, NHS England South East, West Sussex County Council, and the Eve Appeal. Please find the link to this online meeting here. | |
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Genetic testing: how to request this for your patients | |
The national genomic test directory enables healthcare professionals outside of clinical genetics to request ‘diagnostic’ genetic testing at the point of care rather than referring to clinical genetics. This half-day virtual training programme aims to provide a practical tool-kit for healthcare professionals to request genetic testing. Find out more and register. | |
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| Genomics at this years’ NHS Confed Expo | |
If you are in Manchester this week for NHS ConfedExpo, don't miss a session on making genomics a reality in clinical care at 9.45am on Thursday 13 June in Charter 8. With thousands of patients now benefitting from the faster and more accurate diagnoses and more targeted treatments genomic testing provides, this session will set out our progress so far in bringing the power of genomics into routine NHS care.
Speakers include Professor Elijah Behr, Dr John McDermott and Dr Emma Baple and the session will be chaired by Professor Dame Sue Hill. Find out more and view the full programme on the conference website NHS ConfedExpo 2024 | NHS Confederation. | |
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Useful links and resources | | | |
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- 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
You can follow us on Twitter, connect with us on LinkedIn and subscribe to our YouTube account. To share future newsletter content or suggestions please email ian.kingsbury@nuh.nhs.uk
If you have been forwarded this email by a colleague and would like to be on our mailing list, please register here. | |
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