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Our big news this month is the launch of 14 new Genomics Communities of Practice, open to healthcare staff working in the East Midlands and East of England. We are funding and supporting these new CoPs which span cancer and rare/inherited conditions. You can find out more about them, including how to join and upcoming meetings, via the links below.
We also bring you news of an update to the national genomic test directory for cancer, outline ways to get involved in Rare Disease Day at the end of this month, and report back on our attendance at the Festival of Genomics and Biodata in London last week. Here's a full run-down of what we have this month: | |
Laboratory updates - Updates to Cancer Test Directory
- Solid cancer large panel NGS turnaround delays
News and updates - 14 new genomic communities of practice launched for our region
- East Genomics at the Festival of Genomics and Biodata
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Secondment opportunity: Data Analyst -
New Genomics in Pharmacy resource -
Genetic testing to reduce risk of kidney failure among Black African and Black Caribbean donors World Cancer Day - 4 Feb Rare Disease Day - 28 Feb News round-up
| | Events, education and training- SAVE THE DATE: Public event, Leicester
- Sickle Cell - national trainig programme
- North Thames Genomics Showcase
- Equality, Diversity and Inclusion (EDI) for Genomic Professionals
- Practical Genomics and Genetic Testing for the Non-geneticist
- East Paediatric Community of Practice - Imprinting Disorders
- Events calendars of other organisations
Quick links | Contact us | | | |
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| Updates to national Cancer Genomic Test Directory | |
Genomic testing for ESR1 variants in oestrogen receptor positive HER2-negative advanced breast cancer.
Following the publication of NICE Technology Appraisal Final Draft Guidance: Elacestrant for treating oestrogen receptor positive HER2-negative advanced breast cancer with an ESR1 mutation after endocrine treatment, the National Genomic Test Directory has been updated to include ctDNA testing for ESR1 (Test code: M3.13). Initially testing is only available through specific GLHs. Please do not send requests for this test to East Genomics.
Important information for ordering ESR1 plasma testing The blood kits available from each GLH are specific to the testing method employed by the designated GLHs, therefore it is paramount that the correct blood kit is used for test routing. Clinicians in the East Genomics region are required to refer samples to the North Thames GLH. This is an interim arrangement until 31 March 2025.
You can find out more, including an education and training webinar, how to access blood kits and where to return them with samples, on our website here.
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| Turnaround time delays for solid cancer large panel NGS | |
We are currently experiencing delays in turnaround times for solid cancer large panel NGS tests as a result of increased referral volume and unprecedented staff shortages. We are actively working to minimise further delays and we expect turnaround times to improve in the next few weeks. The team will continue to prioritise clinically urgent samples. Please indicate on referral forms if you require urgent analysis. We apologise for any inconvenience caused and thank you for your patience and understanding. | |
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Introducing our 14 new Genomic Communities of Practice | |
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We are pleased to announce that we are funding and supporting 14 new Genomics Communities of Practice (CoPs) which will bring together healthcare professionals from across the region on a regular basis to share best practice and upskill around genomics and how it relates to their particular area of medicine.
The online CoPs will run monthly and are open to any healthcare professional working in the East Midlands or East of England. Typically, they will last 1 hour per month and feature expert speakers and practical advice.
We have shown the effectiveness of the CoP model over the past three years with our East Paediatric Genomics Forum. Via monthly online meetings and a digital support platform, we have engaged over 600 Paediatricians, and supported over 100 from around 30 NHS organisations to implement trio whole genome sequencing into their practice.
Dr Gemma Chandratillake, our Education and Training Lead, explains: “We have found that a Community of Practice model is a scalable, systematic way to approach genomics education and training provision for healthcare professionals. This format enables those with genomics expertise to support large numbers of mainstream clinicians across a large geographical region, thereby increasing the reach of their practice”.
"Having assessed this model to be effective in engaging and upskilling clinicians across our region, we are now supporting clinical leaders to expand the provision of pan-regional CoPs to many other areas of medicine".
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Cancer CoPs - Lung cancer
- Gynaecological oncology
- Adult Haemato-oncology
- CTYA Haemato-oncology
- Pancreatic cancer
- Urological tumours
- Cancer of Unknown Primary
| | Rare and Inherited CoPs - Cardiology
- Endocrine neoplasia
- Familial hypercholesterolaemia
- Immunology
- Monogenic diabetes
- Ophthalmology
- Paediatric endocrinology
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It was great to be part of this year's Festival of Genomics and Biodata (FOG) at the Excel centre in London last week (29 and 30 January). We took our place among hundreds of exhibitors - and joined forces with our colleagues from the other regional Genomic Medicine Services - to spread awareness among the 7000+ delegates about genomics in the NHS.
We had well over 300 conversations over the two days and made some great new connections. It was fantastic to see so many great speakers including our very own Nurse, Midwife and Primary Care Leads Anita Murphy, Jo Hargrave and Nadeem Qureshi. Professor Dame Sue Hill and Dr Kate Tatton-Brown represented the NHSE Genomics Medicine Service and Genomics Education Programme respectively. We will share any resources or updates with you next month. You can already register your interest for next year's event via the link above. | |
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Secondment opportunity: Data Analyst | |
We are seeking a Band 6 Data Analyst for a period of 6 months to support the Cancer Genomics Improvement Programme (CGIP) in the East region. The post holder will work as part of the East Genomics CGIP team by providing key informatic insights to support with decision making. The role is open to internal applicants only, and you can see the relevant job adverts below: The deadline for applications is Wednesday 12 February. | |
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Genomics in Pharmacy resource now available | |
The national Genomics Education Programme has produced a new resource to help pharmacists learn more about genomics and its impact on their practice. It covers the impact of genomics to patients, cases highlighting genomics in the NHS and links to further educational and practical resources.
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NHS roll out genetic testing to reduce risk of kidney failure among Black African and Black Caribbean heritage donors | |
Kidney failure disproportionately impacts people from Black African and Black Caribbean heritage. The test is part of national genetic testing available on the NHS and will help identify if potential donors carry genes that mean they have a high risk of kidney disease after donation.
The NHS plans to carry out around 160 tests a year to identify people with ‘high-risk’ variants of a gene known as ‘APOL1’, common in people of Black African and Black Caribbean, and the test will help clinicians assess donor suitability and future risk of kidney failure. Following APOL1 testing, those shown to be at high risk of developing kidney failure later in life, and who are under 60 years old, will be advised against kidney donation.
Dr Dela Idowu had the genetic test after she found out her brother Tayo needed a kidney transplant. She said: ‘When Tayo told me he had chronic kidney disease and would need a kidney transplant, being his donor was a no brainer for me. Despite being a tissue match and the same blood group, the results of the test showed it was too risky because I would be at a higher risk of kidney disease in later life. Although this was heartbreaking, he was able to get a transplant from another donor"...Find out more in the full news release. | |
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| World Cancer Day - Tuesday 4th February | |
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Alongside a presence at Trusts in our region (image of our Cambridge Laboratory staff at a drop-in day organised at CUH) we also put together a short video for World Cancer Day. Here are links to the resources mentioned at the end of the video: | | | |
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| Will you show your stripes this Rare Disease Day? | |
Rare Disease Day 2025 falls on Friday 28 February this year. The main partner in the UK is Genetic Alliance UK, but there are other groups and organisations who also mark the day. Below you can find out more about what's happening, and how to show your support. | | | |
Genetic Alliance UK For Rare Disease Day 2025, Genetic Alliance UK have a theme of ‘more than you can imagine'. They will publish ‘More than you can imagine: an anthology of rare experiences’ online for Rare Disease Day 2025, which is a digital anthology of experiences from the genetic, rare and undiagnosed communities through creative works such as poetry, stories, photos and drawings. You can download Genetic Alliance UK assets for use on social media, and share Genetic Alliance UK social media posts on Twitter/X, Facebook and Instagram using the hastags #RareDiseaseDay and #MoreThanYouCanImagine | |
Medics4RareDiseases (M4RD) M4RD will be running their annual #ShowYourStripes campaign for RDD 2025. Just wear stripey socks and, if you’re comfortable to do so, post a selfie on Instagram or LinkedIn with the hashtag #ShowYourStripes and tag @MedicsForRare.
All tagged photos will be uploaded to an online gallery that will remain a visual show of support to those people living with rare conditions. Not on social media? Just email your pictures to hello@m4rd.org.You can even order socks here! | | | |
They are also running an updated Rare Disease 101 webinar online on 25 February at 7pm. You can book your place here. | |
RDD 2025 events and webinars | | |
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| Hypothalamus map gives new insight into genetics of obesity | |
A study published today in Nature reports the creation of the first detailed map of the human hypothalamus, a key part of the brain that contributes to obesity and weight management as part of its critical and diverse role in regulating metabolism, body weight, appetite, sleep and stress.
Dr John Tadross, Molecular Pathology Lead for East Genomics and a researcher at the Institute of Metabolic Science-Metabolic Research Laboratories (IMS-MRL), University of Cambridge, played a key role in the research, as the study’s first author. | | | |
The study presents a research tool called HYPOMAP that is the first comprehensive cellular map of the human hypothalamus – a kind of “Google Maps” for the brain. By advancing our understanding of metabolic health and its genetic underpinnings, HYPOMAP could inform future clinical strategies, leading to improved therapies and outcomes for patients with obesity and related disorders....Read the full story on our website. | |
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| Database to help patients 'Be Part of Research' | |
The National Institute of Health Research (NIHTR) Be Part of Research is a free service which makes it easy to find and take part in vital health and care research across the UK. Patients can register which health conditions they are interested in via the platform, which will match them to suitable studies and send them information on how to take part.
Current Cancer and Genetics studies can be found via the 'Find a Study' A-Z search on the site. Please do bear this in mind when discussing relevant clinical trials and research with your patients. | | | |
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Events, education and training | | |
SAVE THE DATE: Genomics and minority ethnic communities event, Leicester, 5 April 2025 | |
| We will be holding a large public engagement event at the Peepul Centre in Leicester on Saturday 5 April 2025. Primarily aimed at people from minority ethnic communities (but all are welcome, including healthcare professionals) the event aims to continue conversations around screening and when genomic testing might be appropriate, early diagnosis, and equal access to testing across cancers and rare and inherited conditions. | | | |
We will have a range of sessions featuring clinicians and patient experts by experience, a health marketplace with information stands featuring many local and national organisations, groups and charities, plus lunch and activities for families, including arts-based activities, Henna art and much more. We will start to promote the event later this month. Please contact Ian Kingsbury in the meantime to find out more. | |
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Sickle cell disorder national education programme | |
A new NHS England education programme focuses on improving clinical knowledge of sickle cell disorder (SCD) to enable healthcare colleagues to provide excellent care to a patient group with complex needs.
The programme offers two course options. In addition to clinical knowledge, the courses within this programme address the role of racism and health-related stigma in patient care, teaching learners how to recognise and prevent such behaviours. The programme also stresses the importance of close patient monitoring, awareness of sudden deterioration risks and pre-operative planning for SCD patients undergoing surgery. Read more about the programme. | |
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North Thames Genomics Showcase | |
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Wednesday 19 March, 9am-5pm, online or in person at The Royal Horseguards Hotel, London Join the North Thames Genomic Medicine Service for this special event, that will highlight projects, demonstrate the impact of genomic medicine on healthcare and offer an exciting look into the future of genomics in the North Thames area. Find out more and register here. | |
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17/18 Mar: Equality, Diversity and Inclusion (EDI) for Genomic Professionals 2025 | |
This online course is designed to highlight the fundamental approaches and limitations for professionals keen to ensure equality, diversity and inclusion in their genomic practice. The rate is £220, with discounts available for groups of 3 or more.
It is aimed at any healthcare professional undertaking a clinical role in clinical genomics seeking a structured and taught course that they can apply to practice. It is relevant for medical, nursing and midwifery, allied health and scientific colleagues, including; consultant geneticists, specialist registrars in genetics, genetic counsellors, clinical scientists in genetics, genetic nurse specialists and genomic researchers. Find out more and register here. | |
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| 21 Mar: Practical Genomics and Genetic Testing for the Non-geneticist | |
This one day, face-to-face course aimed at doctors in training (especially medical and paediatric specialties), qualified general clinicians without a background in genomics education, clinical nurse specialists or midwives and pharmacists wanting to upskill in genomics, provides essential genomics knowledge and skills for everyday clinical healthcare. Participants will learn how genomic variation can contribute to disease, how to request appropriate genomic investigations, interpret genomic test results, talk to patients about genomic testing and incorporate genomic data into patient management plans. Book here. | |
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Upcoming Communities of Practice | |
Further to the article above, we will add details of our Genomic Communities of Practice as soon as they get up and running. For now, our Paediatric CoP (previously known as our Paediatric Genomics Forum) series continues with: | |
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Events calendars of other organisations (A-Z) | |
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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 projects, mainstreaming, pathway development and wider education, training and and engagement should be directed to the East Genomic Medicine Service Alliance (East GMSA) at egmsa@nnuh.nhs.uk
To share future newsletter content or suggestions please email Ian at i.kingsbury@nhs.net.
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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