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Lots to update you on this month. We're pleased to announce that we will be holding three online Showcase events in July 2024, on Cancer, Rare and Inherited Conditions and Prenatal and Paediatrics. Please save the dates for those you would be interested in attending and follow the link below to register your interest.
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 - Baby born deaf can hear after breakthrough gene therapy
- East Genomics Showcases July 2024
- National Genomic Test Directory Survey
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GeNotes Cardiology: now live 'Red Flags' for maternity genomic testing
ctDNA testing in lung cancer update
Genomics Conversation Week in June New inherited cardiac conditions clinics at Leicester's hospitals
Laboratory updates - Increased cancer testing in our Nottingham Laboratory
- Vacancy: Genomics Laboratory Training Manager
- Ride for Rare bike ride in September
| | Events, education and training
- Genomics BITE: Supporting patients with Lynch Syndrome and Rare Conditions
- East Paediatric Genomics Forum (23 May)
- East Prenatal Genomics Forum (14 June)
- Biliary Tract Cancer in the East Midlands
- Genomics Training Academy (GTAC)
- Association of Genetic Nurses & Counsellors event
- Cambridge Institute of Continuing Education Genomic Medicine programme
- e-learning on genomics in pharmacy
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| Baby born deaf can hear after breakthrough gene therapy | |
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You may have seen national news coverage of a story developed by Cambridge University Hospitals regarding a Gene Therapy Hearing Loss study at the Trust, lead by Professor Manohar Bance. The story appeared on the BBC, Radio 4, BBC 5 Live, Sky News, ITV Anglia, as well as in many other broadcast, print and online outlets. The coverage has focussed on an 18 month old girl called Opal, who can now hear – with almost normal hearing - in her right ear after receiving the gene therapy at 11 months of age. She was given a cochlear implant in her left ear at the same time.
Opal is the first person in the UK to receive the treatment, and the youngest person in the world to have it. Opal's case is a great example of how early and proactive genetic testing - suggested due to her older sister having the condition - enabled clinicians to act fast to pick up her condition, which has had a huge impact on her and her family.
You can read the full story here. | |
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East Genomics Showcases - Save the Dates and register your interest
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This year we are running 3 online 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, 9.30am - 1pm,
- Our Rare and Inherited Conditions Showcase takes place on Wednesday 10 July 2024, 9.30am - 1pm
- Our Prenatal and Paediatric Showcase takes place on Thursday 11 July 2024, 9.30am - 1pm
Full agendas and speakers will be confirmed shortly. All are free to attend.
You can now register your interest here. Please indicate which showcase(s) you would like to attend when registering. | |
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National Genomic Test Directory Survey
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NHS England's Genomics Unit is inviting you to participate in a brief survey regarding your experience with the National Genomic Test Directory.
The survey will take only a few minutes and your responses will be incredibly valuable in helping to enhance the usability and effectiveness of the Test Directory, and in ensuring that the Test Directory meets the needs of all users. | | | |
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| GeNotes – GEP's flagship resource to support clinicians accessing genomic testing – is now available for cardiology.
Developed by clinicians for clinicians, this new collection aims to meet a wide spectrum of genomics education needs for the busy cardiologist.
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New 'Red Flags' resource for genomic testing in maternity services | |
Our counterparts in the North East and Yorkshire have produced a 'Red Flags' flashcard outlining some of the common red flags to lookout for that may indicate genomic testing is appropriate for a patient within maternity services.
The resource is available in both A5 and A4 formats, and has editable areas for the relevant local referring details (i.e. Clinical Genetics Service) depending on where in the country your service is based. | | | |
If you would like to discuss getting hold of some copies for your service, please contact our Lead Midwife Jo Hargrave at joanne.hargrave@nnuh.nhs.uk.
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| ctDNA pilot enters phase 3, to reach 10,000 patients | |
In support of the national roll-out of ctDNA testing to a further 10,000 lung cancer patients, we recently ran two webinars to share with healthcare staff the pathway, supporting resources/documentation and information on the testing process including how to order testing kits.
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Have you been on a professional genomics journey? | |
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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. | |
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| Two new nurse-led inherited cardiac conditions (ICCs) clinics at Leicester's hospitals | |
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Family screening and diagnostic genetic testing services have been established at University Hospitals of Leicester, which will support individuals with diagnosed ICCs and their family members, under the leadership of Consultant Cardiologist, Dr Harshil Dhutia.
‘ICCs’ describes genetic diseases affecting the heart muscle, or electrical system. Up to one-in-300 people are affected by these conditions, which are the leading cause of non-accidental death in young people. - The family screening clinic will support people who have a family member with a diagnosis of an ICC through regular screening, education about the condition, red flag symptom awareness and decision-making around predictive genetic testing, if this is an option for them.
- Diagnostic genetic testing will offer further support to individuals with an ICC. Sometimes, a specific gene can be identified as the underlying cause. If identified, this means predictive genetic testing can be offered to family members, with the opportunity for further condition counselling, how to manage symptoms and the red flags to look out for.
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| Generation Study aims to sequence genome of 100,000 newborns | |
The Generation Study aims to sequence the genome of 100,000 newborns to look for a specific set of rare genetic conditions that affect babies and can be acted on. To learn more about the study and the hospital trusts that are involved, please click here. For patient information and registration, please click here.
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| Increased cancer testing in our Nottingham Laboratory
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Congratulations to our colleagues in the genomics laboratory at Nottingham University Hospitals (NUH), who have recently installed newer and more advanced testing equipment so that they can carry out more detailed genomic testing for certain cancers.
The installation of two new Genexus machines is now enabling the NUH laboratory team to carry out testing where there is limited tumour sample available. It also means they can test for a wider range of mutations than previously and bring a number of tests back in-house while simplifying, shortening and streamlining the process. You can read further information on our website. | |
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| Vacancy: Genomics Laboratory Training Manager | |
The Cambridge Genomics Laboratory (CUH) is pleased to be recruiting a Training Manager to ensure that the Scientific Staff support the Laboratory’s aims by providing a professionally competent workforce, while also enabling the Scientific Staff to develop their careers within the Laboratory.
The Training Manager (Scientific Programme) will be responsible for developing Scientists for them to attain registration with the HCPC and to achieve higher level professional qualifications. The Training Manager will need to prioritise training availability. You will need to develop SOPs and policies in order to ensure a consistent approach to opportunities is provided. Find out more, including how to apply. The closing date is 2 June 2024. | |
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| Ride for Rare bike ride in September | |
Several GLH staff are interested in taking in the Ride for Rare bike ride on Sunday 15 September. More information can be found here. Claire Cocks, Fundraising Manager from Genetic Alliance UK (claire.cocks@geneticalliance.org.uk) is registering participants. The organisers are keen to have a ride representative from every service in the UK and Claire can help riders group together if there are small numbers or different requirements.
This event will be advertised by the charities through social media, so expect your patients, friends and families to hear about it! The fundraising page can be found here. | |
Events, education and training | | |
Genomics BITE: Supporting patients with Lynch Syndrome and Rare Conditions
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Wednesday 22 May, 12pm - 1pm, via MS Teams
This session brings together resources and tools developed to support patients with Lynch Syndrome or a Rare or Inherited Condition.
We are delighted to welcome national charity Lynch Syndrome UK, and regional charity Cambridge Rare Disease Network (CamRARE), to discuss their respective 'patient passports' which have been developed to increase understanding and communication between patients and healthcare professionals.
We also welcome Professor Julian Barwell who will talk about a new Lynch Syndrome app developed at University Hospitals of Leicester NHS Trust which is designed to help Lynch Syndrome patients manage their condition. Please pass this on to any patients who may be interested. Registration is free via this website. | |
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East Paediatric Genomics Forum | |
Our next Paediatric Genomics Forum, An evaluation of East GMSA’s NICU/PICU R14 Rapid testing project, takes place via MS Teams on Thursday 23 May, 12.30 – 13.30 with guest speaker Marie-Anne O'Reilly PhD, Lead Genetic Counsellor, Nottingham Clinical Genetics Services. | | | |
Key learning points include alternate staffing models – pros and cons, impact on patient journey and a benefits analysis. Please register your place here. Once you’ve registered you will receive a meeting link.
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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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The Biliary Tract Cancer Landscape in the East Midlands | |
22 May 2024, Radisson Blu Hotel, East Midlands Airport, Pegasus Business Park. DE74 2TZ
This event forms part of our 'Integrating genomic testing into biliary tract cancer management pathway' project which is being led by Arvind Arora, Consultant Medical Oncologist at Nottingham University Hospitals NHS Trust. The content of this meeting is intended for: - Hospital Doctors
- Specialist Nurses
- Nurses
- Pharmacist Payers/Commissioners
- Other relevant HCPs and decision makers
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Coming soon: Genomics Training Academy (GTAC) | |
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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.
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Association of Genetic Nurses & Counsellors event | |
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| CPPE e-learning on genomics in pharmacy: an introduction to person-centred consultations | |
A new CPPE educational resource has launched this week to support the development of pharmacy consultation skills in genomics. This resource is free to access for NHS staff and can be found here. | |
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| Applications open for Cambridge’s Institute of Continuing Education NHS-commissioned Genomic Medicine programme | |
The University of Cambridge’s Institute of Continuing Education and the University of Cambridge’s School of Clinical Medicine together deliver the NHS-commissioned Genomic Medicine programme, offering:- Postgraduate Certificate in Genomic Medicine
- Postgraduate Diploma in Genomic Medicine
- MSt in Genomic Medicine
Applications are open for the next cohort to start in October 2024. The deadline for award-bearing applications is 31 May 2024 at 23.59. You can book onto a Q&A session here with course Director, Dr Kenny Langlands, on 14 and 15 May between 10am-12pm. | |
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Roundup of other upcoming events, education and training | |
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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
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