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Over the past few months we have been pulling together a submission for a Solid Cancer Genomic Network of Excellence with key NHS, academic, third sector and industry partners. Our expression of interest was submitted to the national Genomics Unit on 5th May. Following a period of feedback and business case development we will be submitting our final bid at the end of this month. We will let you know the outcome and provide further updates via these newsletters over the coming months.
There is lots to focus on for this edition, including our Showcase event which we held early last month, updates to the national Genomic Test Directory, the launch of the QGenome app for clinicians in the East Midlands and East of England, #GenomicsConversation week at the end of the month, and much more.
As ever we welcome feedback and suggestions for what you would like to see more of to help you in your roles and teams. Please email us here.
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Thank you once again to everyone who expressed an interest in our Showcase event held in Peterborough on 4th May.
We welcomed over 100 delegates on the day, who heard from over 20 speakers including three patient stories. The feedback we have received about the event has been very encouraging, and we are already planning future engagement events (so watch this space!). | |
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QGenome app launches in our region | |
You will hopefully have heard about the launch of a new genomic referral, risk assessment and testing guidance app across our region. QGenome will initially support clinicians in the area of cancer, with further specialties to be added once the app has bedded in. If you missed it you can read our launch email here. | | | |
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New Lynch Syndrome Expert Network - call for patient referrals | |
| Clinicians across the East Midlands are being invited to discuss their Lynch Syndrome (LS) patients at a monthly multi-disciplinary expert group in order to optimise their ongoing care.
The EMSLEN (East Midlands Lynch Syndrome Expert Network) will meet on the fourth Monday of every month via Teams. Following referral, timeslots will be allocated to individuals to present their patient to the expert group.
The EMLSEN will ensure: - Routine surveillance of LS patients across the region
- LS-informed surgery, where appropriate
- Access to a LS specialist GP for patients concerned about symptoms
- Access to a clinical psychologist
- Continuity of care for LS patients and their families.
You can find out more about EMLSEN and how to refer patients in on our website here. | | |
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Website project pages updated | |
We have updated the East GMSA Transformation Projects pages of our website, which you can find here.
The pages now provide more information on what our projects are doing, who we are working with, progress to date and next steps, alongside team contact details and links and resources for healthcare staff and patients. If you have feedback on any of these pages email Ian Kingsbury. | | | |
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National Genomic Test Directory: June 2023 update
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NHS England has updated the National Genomic Test Directory in breast and prostate cancer for patients who are eligible for PARP inhibitor treatment.
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. | |
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Our Patient and Public (PPV) Panel is recruiting | |
Our Patient and Public Voice (PPV) Panel is made up of representatives from across the East of England and East Midlands. They bring a range of experiences of genetic testing and their own established networks.
We are looking to recruit 2-3 more members, so if you, or someone you care for, has undergone genetic testing in the NHS within the last 3 years, we want to hear from you. You can find out more about the role, and how to apply, on our website. | |
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Inclusion/exclusion criteria posters for R21 testing | |
Our Feto-Maternal project team have produced some posters for Feto-Maternal units on inclusion and exclusion criteria for rPES (R21) testing. You can find out more about the poster and the project on our website, which includes contact information for the team. | |
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#GenomicsConversation Week (26-30 June) | |
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Each year Health Education England's Genomics Education Programme run #GenomicsConversation week to spark a conversation about genomics and increase healthcare professionals’ familiarity with the topic.
This year the campaign will run from 26-30 June with a focus on ‘hidden genomics’ and will feature stories and activities to reveal how genomics is being used across the healthcare system and uncover the unexpected places it can appear for both healthcare professionals and patients.
Follow GEP on Twitter to keep up to date on plans for the week. More on how to get involved can be found here. If you do get involved on social media don't forget to tag us in at @East_Genomics.
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National Speciality Advisor for Genomics appointed | |
Dr Sarah Bowdin, Consultant Clinical Geneticist and Medical Director of the NHS East Genomic Laboratory Hub, has been appointed as the National Speciality Advisor in Genomics.
She will chair the Genomics Clinical Reference Group (CRG) and will provide clinical input across the national genomics programme. | | | |
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Cambridge transitions to Epic | |
The Cambridge Genomics Laboratory has achieved a key transformation milestone by implementing Epic as its Laboratory Information Management System. The benefits of a more efficient process within Specimen Reception are already being felt, but our training and optimisation process may cause delays elsewhere. We also need to manage the way that Epic handles samples that cut over from the old system into the new system. Thank you for your patience if you experience any delays due to this implementation period; we hope to see the benefits of removing legacy and duplicate IT processes as we become accustomed to our new software. You may also see some changes in the look of our reports. While only one signature will appear on reports, please be assured that we are still dual reporting. The analyst will no longer appear on the report, just the approving scientist. Also, if you are in histopathology, you may notice some blank Genomic reports being appended to histology reports as we work through cases that were entered onto our old system. This is a known issue that does not impact testing. | |
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Genomics study diagnoses thousands of children with rare disorders
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An Addenbrooke’s consultant is playing a key role in a UK study, revealing genetic causes for rare developmental disorders in 5,500 children and helping to improve diagnosis worldwide. Professor Helen Firth is senior co-author of the Deciphering Developmental Disorders study recently published in the New England Journal of Medicine. More than 13,500 families from 24 regional genetics services across the UK and Ireland were recruited; all had children with a severe developmental disorder, which was undiagnosed despite prior testing. The study found around three-quarters of the conditions diagnosed were caused by spontaneous mutations not inherited from either parent. | |
Events, education and training | | |
Genomics BITE: Genomics in practice | |
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On 14 June we’re holding a short Genomics BITE session for nurses and midwives entitled 'Paediatric Genomic Practitioners in NICU, PICU and neurology'. Our guest speakers Shelby Mathlin and Caroline Hoad (Paediatric Genomic Nurse Specialists) will discuss:
- Workforce transformation project - paediatric genomic practitioners
- Consent and confidentiality
Register your free place here.
Previous session recordings: | |
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Do you know someone who is considering a career in genomics or pathology? If so, they can join a virtual Diagnostics Career Cafe event on 15 June at 10am - which we're co-hosting - and hear from East Genomic Laboratory Hub leads Georgina Corfield and Francesca Tonini. You can register your free place here. | |
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Cambridge Genomic Medicine Programme - Modular study | |
The Genomic Medicine Programme at the University of Cambridge allows individual modules to be studied outside of their Masters Programme. For more about information see the Cambridge Institute of Continuing Education (ICE) website here. Please note: the dates have yet to be updated on this page. | |
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National Lynch Syndrome Workshops | |
The following national Lynch Syndrome project workshops for colorectal cancer and endometrial cancer multidisplinary teams (MDTs) are open for booking. Please note the September workshops are identical in content to those in June. Click the image to visit that workshop page. | |
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A further series of national Lynch Syndrome project workshops is aimed at nurses, and is on the subject of mainstreaming germline genetic testing and setting-up new nurse-led clinics. There are two dates but you only need attend one. Find out more here.
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Pharmacy pharmacogenetic training session | |
On 14 June NHS North Thames GMSA is hosting an education and training webinar based on a guideline released in early April which provides dosing recommendations for 6-mercaptopurine in adult acute lymphoblastic leukaemia patients based on their TPMT and NUDT15 genotypes. Visit the event website to register. | |
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GEP LinkAGE webinar on cystic fibrosis | |
The next in the LinkAGE series of expert webinars from GEP is on Monday 12 June at 5pm.
Kaftrio changed the world of cystic fibrosis will be delivered by Dr Ian Balfour-Lynn, consultant in paediatric respiratory medicine. This webinar series is aimed at those who already have a strong understanding of fundamental genomics concepts. Register here. | | | |
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BSGM Lunch & Learn: Update on Genomic England's Newborn Genomes Programme | |
Hear from Genomics England's Dr Richard Scott, (Chief Medical Officer and Deputy CEO) and Amanda Pichini (Clinical Lead for Genetic Counselling) on this NHS-embedded research study to explore the benefits, challenges, and practicalities of sequencing and analysing the genomes of newborns.
Find out more and register your place (non-members need to create an account). | | | |
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Resources to support discussions about the National Genomic Research Library (NGRL) | |
Genomics England have developed additional resources to support healthcare professionals having discussions about the NGRL. This includes a 1-minute video that provides an overview about what it means to take part in the NGRL.
The video is aimed at patients and family members who are offered a genomic test. Clinicians may show this video to their patients as part of a clinic appointment, or send a link before or after an appointment. It should be used alongside other resources about the NGRL including: If you use the video before or during appointments, please consider providing your thoughts on it via this feedback form to help improve this resource and consider any additional resources that could support decision making about the NGRL. | |
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- 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, 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 or email us requesting to be added. | |
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