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| Bank holiday lab closures | |
Our laboratories will be closed during the upcoming bank holidays, please be aware of these arrangements when sending samples for testing. Outside of routine courier collections, please do not arrange deliveries to arrive between:- 12 noon on Thursday 17 April and the end of Monday 21 April
- 12 noon on Friday 2 May and the end of Monday 5 May
- 12 noon on Friday 23 May and the end of Monday 26 May
At CUH, staff will be on-call to process urgent samples during this period.
Haemato-Oncology Service Routine courier services will not be in place over the bank holidays. Please see our website for further details. | |
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National Cancer Clinical Nurse Specialist (CNS) Day | |
| To mark National Cancer Clinical Nurse Specialist (CNS) Day on 14 March 2025, we spoke to Gloria, clinical nurse specialist in children, teenager and young adult genomic medicine at Cambridge University Hospitals. Gloria's career at CUH started in 2008 as a staff nurse on the oncology ward. Gloria reflected: | | | |
"Supporting cancer patients and their families for over a decade has been a journey filled with challenges and triumphs...I might collaborate with a multidisciplinary team...so that any young patient under the age of 25 suspected of having cancer has access to whole genome sequencing as part of their diagnostic process. I may also network to raise awareness and help integrate the service, working on pathways and supporting new colleagues in developing this innovative genomic service. Additionally, I have opportunities for direct patient interaction, providing support and obtaining consent from patients and their families for the procedure."
Whole genome sequencing (WGS) refers to DNA sequencing of the entire genome to tailor treatment and care to the individual patient. Gloria works with teenage and young adult patients, and whole genome sequencing has led to changes in diagnosis, resulting in alterations to their treatment plans and eligibility for research studies or access to existing clinical trials....Read the full interview with Gloria here. | |
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New Cancer and Genetics resource for patients | |
Are you in a senior leadership role within cancer / oncology services at an East Midlands or East of England Trust?
We have produced a new Cancer and Genetics information leaflet to make patients and their families dealing with a cancer diagnosis aware that they can instigate conversations about genomics.
Our ask If you can support pull up banners and / or posters to be displayed in patient areas in your Trust where they will be seen by this patient group, please contact Ian Kingsbury to make arrangements to have resources sent out for display, | | | |
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Patient video for ESR1 breast cancer testing | |
The ESR1 breast cancer test is now available through the NHS Genomic National Test Directory. To support patient understanding of this test, the North West Genomic Medicine Service has developed an animation explaining the ESR1 test and its role in breast cancer care – please click here to view this.
This resource is designed to enhance patient engagement and informed decision-making, ensuring individuals receive clear and accessible information about their genomic testing options. Find out more. | |
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| April is Awareness Month for Bowel Cancer and Fabry Disease | |
People with some conditions have a higher risk of getting bowel cancer |(also known as colorectal cancer) at a younger age. They might see a specialist genetics team and have screening earlier than the normal UK bowel cancer screening programmes. Up to 5% of bowel cancer cases are due to certain conditions passed on through families - called inherited cancer syndromes. Screening aims to detect cancer at an early stage, when treatment is more likely to work. It can also help to prevent bowel cancer from developing in the first place.
In the video below, taken from a series called ‘My genomics journey: three perspectives’, Tom explains how he was sent for genomic testing based on a family history of bowel cancer, and was subsequently diagnosed with Lynch syndrome. He explains his experience with the NHS while undergoing testing and the impact the diagnosis has had on his life. | |
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Fabry disease is a lysosomal storage disorder. Cells in our bodies contains a small part called the lysosome which breaks down and recycles worn out cell components. In Fabry disease the enzyme needed to perform this function is not working effectively allowing these products to build up and become stored in specific areas of the body, which can lead to kidney failure, stroke, pain in feet/hands, gut disturbance, abnormal heart rhythms/heart failure, hearing loss/tinnitus, low mood, abnormal sweating and fatigue.
Fabry is an inherited genetic condition. Genomic testing can allow patients to receive disease-specific therapies when available, as well as open up the possibility of cascade testing to diagnose family members, often at at younger age than they would have been diagnosed otherwise. However, diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms.
In the video below, Loretta MacInnes talks about her long journey to diagnosis, and the impact that this has had on her, and her family. Loretta now runs her own website and blog advocating for families with Fabry and other rare diseases.
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April/May awareness dates | |
April is the awareness month for Bowel Cancer, Teenage and Young Adult Cancer, Fabry Disease, Addison’s Disease, Primary Immunodeficiency, Sarcoidosis, Testicular cancer and Sjögren’s among others.
There are a number of health awareness dates in April and May linked to genetics and genomic testing. Below we have listed some awareness dates this month and next, along with links to further information, as well as any associated test codes in the National Genomic Test Directory (R=rare, M=cancer, or with a reference to a group of tests e.g. Part IX).
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May - Alström Syndrome Day (Endocrinology, R106)
- 5th-11th: Heart Failure Awareness Days (Cardiology, R138)
- 5th - 11th: Deaf Awareness Week (see Part IX, Audiology)
- 6th: Wishbone Day (Osteogenesis Imperfecta) (Musculoskeletal, R102)
- 7th: Cystinosis Day (Metabolic, R334)
- 8th: Ovarian Cancer Day (M2, M233.1, M245)
- 8th: Amyloidosis Day (Renal, R204)
- 15th: Tuberous Sclerosis Complex (TSC) Day (Neurology, R228)
- 17th: World Hypertension Day (Respiratory, R188)
- 17th: Neurofibromatosis Day (Neurology, R222 and R376)
- 18th: Porphyria Day (Gastrohep. R168, R169, R170)
- 19th-25th: Breast Cancer Prevention week (M3, M234)
- 22nd-28th: National Epilepsy Week (Neurology, R59)
- 26th: Melanoma BRAF Day
- 29th: Adrenal Insufficiency (Addision's Disease) Day (see Part IV Endocrinolgy)
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Updates from the Genomics Education Programme | |
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Pilot projects to widen access to GeNotes are underway, including the addition of GeNotes in primary care clinical templates covering cancer and rare disease, which are available in 87% of GP practices. More healthcare specialties are also coming soon to GeNotes, including immunology and mental health, as well as additions to popular rare disease resources and visual communication aids. Do you have thoughts on the future of GeNotes? You can complete this feedback form
New Genomics Learning Passport for Midwives The Central and South Genomic Medicine Service Alliance has developed a new tool for midwives looking to start – or continue – their genomics learning journey. The passport is designed around three phases of learning, from the essentials to Master’s-level qualifications, and is formatted to meet the requirements for revalidation. Visit the GEP website to find out more and download your copy. Results of genomics in pharmacy survey Are pharmacists ready to embrace genomics in their practice? GEP recently surveyed more than 1,500 NHS pharmacy practitioners to find out their awareness, understanding and confidence around genomics, and to identify education and training needs. Learn about our findings in the Genomics in your practice: pharmacy report. | |
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| QGenome now on the Clinibee app | |
QGenome is a practical digital tool which helps busy clinicians apply genomic referral, risk assessment and testing guidance within a clinical setting.
It is intended for any HCP involved in patient care, working in primary, secondary and tertiary settings, including doctors, nurses, genetic counsellors, midwives, pharmacists and anyone else managing patients who could benefit from genomic testing. | | | |
Using QGenome, clinicians can: - Quickly assess familial risk factors in patients
- Search the National Genomic Test Directory for relevant tests
- Use clinical workflows to aid decision making and standardise genetic referrals
Specialties and areas covered by QGenome currently include Cancer, Cardiac, Prenatal, Primary Care and Renal.
Find out more about the support and guidance offered by the QGenome app, including how to download it, on our website here. | |
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| Record of Discussion form - user research | |
NHS England and Genomics England are reviewing the consent process in genomic testing. Their main aims are to: - update the Record of Discussion (RoD) to reduce the time and energy required by clinicians when consenting patients for whole genome sequencing and research (to the National Genomic Research Library - NGRL)
- make the consent form more patient centric, so that they are supported to make the right decision at the right time about participating in research and the implications of whole genome sequencing.
The review team are looking for: - Clinicians who request WGS for rare disease or cancer and consent for the NGRL
- Genomic Laboratory staff who review the RoD and pull together all of the forms
- Cancer or rare condition patients (or their representatives) who:
- have experience of WGS and have OR have not consented to the NGRL
- have experience of other genomic tests (e.g. panel test) but not WGS
to take part in 60-90 minute interviews between 31 March and 11 April, some 1-to-1 in-depth interviews, or a feedback survey.
Please find here a screener survey for anyone interested in giving feedback. Please note that if you are not recruited to this first round, further rounds of user research are planned in the near future. | |
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| Regional Genomic Clinical Practitioner Service Educational Event | |
The East of England Cancer Alliance hosted a regional event on 14 March exploring how genomics is changing the way we understand and treat cancer. Nearly 100 clinicians heard how genetic insights are shaping the future of cancer care. | | | |
Genomics is transforming how we understand cancer—shedding light on the unique drivers behind each individual’s disease. This knowledge is paving the way for more personalised and effective treatments. It’s also helping to predict who is most likely to benefit from specific therapies, such as immunotherapy, and is enabling breakthroughs like personalised cancer vaccines.
A highlight of the day was showcasing the incredible progress the EoE Genomic Clinical Practitioners have made. Their passion and dedication were clear in the brilliant suite of educational posters they’ve developed – a fantastic resource for both patients and professionals.
East Genomics was represented through our Lead Nurse, Anita Murphy, who had an information stand (pictured), and Dr Brent O'Carrigan, Clinical Lead for the East Genomic Laboratory Hub and the Regional Genomic Practitioner Service who chaired the event. Anita also gave a talk on the vital role of collaboration in embedding genomics into mainstream healthcare, in which she emphasised the East GMSA's commitment to ensuring equity of access, particularly in genomic testing, which delivers transformative diagnostic and treatment benefits - from providing answers for critically ill infants to informing cancer care for adults.
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| Genomics to revolutionise treatment of childhood rare diseases | |
A simple genomics blood test could improve treatment and care for childhood epilepsy, but more investment is needed to make access fair and securely join up the data, finds a new study involving researchers at UCL and Great Ormond Street Hospital for Children (GOSH).
The International Precision Child Health Partnership (IPCHiP) has shown that rapid genomic sequencing (rGS) can improve diagnoses, enhance treatment plans and allows patients, families and doctors to make more informed decisions. rGS quickly reads and analyses a person’s genetic material by breaking it into small fragments and sequencing them all at once.
The team found that rGS provided a genetic diagnosis for 43% of children in under three weeks. Importantly, for 98% of children with a genetic diagnosis there was a significant impact on their treatment, such as a choice of antiseizure medication. Read the full story here. | |
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| Largest ever DNA resource to unlock insights into child health and development | |
A new resource - led by the Wellcome Sanger Institute - containing DNA sequencing data for over 37,000 children and parents collected over multiple decades from across the UK is now available to researchers worldwide. The resource will allow scientists to explore the relationship between genetic and environmental factors in child health.
The data has already been used to study the contribution of common genetic variants on phenotypes ranging from childhood obesity to parental nurturing behaviours and anxiety and depression. Dr Hilary Martin, Group Leader at the Wellcome Sanger Institute, said: “By combining the pre-existing health and lifestyle data from the initial studies with genomic information, we have started to get a more complete view of how small DNA changes can subtly influence certain complex traits across childhood and adolescence". Read the full story here. | |
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| Sheffield researchers help discover previously unidentified genes linked to rare diseases | |
A new study has found 69 previously unidentified genetic determinants of rare disease, including uncommon forms of kidney disease and diabetes.
Rare diseases affect between 4 - 6 per cent of people worldwide. Despite advances in genetic testing, most genetic variants that lead to disease remain unknown resulting in around 80 per cent of people with a rare disease being undiagnosed even after genomic sequencing.
The international team developed an analytical framework for identifying genetic causes of mutations in one gene and applied it to the genetic records of 34,851 people and their family members (72,690 genomes in total) from Genomics England’s 100,000 Genomes Project.
The study, published in Nature, identified genetic variants in 69 genes not previously known to be associated with any disease. In 30 of these cases, the new genetic findings were supported by existing experimental evidence, thereby confirming the accuracy of the novel approach. The strongest overall genetic and experimental evidence supported newly discovered genetic variants for rare forms of kidney disease, diabetes, schizophrenia, epilepsy, Charcot-Marie-Tooth (CMT) disease, and anterior segment ocular abnormalities. Read the full story here. | |
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Events, education and training | | |
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Upcoming Communities of Practice | |
Here are upcoming dates, with registration links, for our Genomics Communities of Practice:
You can also access slides and recordings from previous sessions via the 'Clinical Specialisms' folders on our FutureNHS platform (you will need to request access if you have not already done so). | |
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Postponement of public even in Leicester, 5 April | |
| Unfortunately we have had to postpone our planned public engagement event in Leicester, which would have taken place this Saturday (5 April) at the Peepul Centre. Thanks to everyone who had agreed to be part of the day, and we look forward to picking up this important public engagement and awareness raising work around genomic testing, equity of access and minority ethnic communities, over the course of this year. | |
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11 April: our Pharmacy and Medicines Optimisation Working Group Forum | |
The next East Genomics Pharmacy and Medicines Optimisation Working Group Forum on Friday 11 April at 10.30am will look at 'Genomics in Medicines Optimisation '. You can register your place here. | |
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23 April: Regional Midwives in Genetics and Genomics Network | |
Our Regional Midwives in Genetics and Genomics Network (RegMiGGs.net) brings together regional midwifery professionals, educators and those in specialist roles that support the embedding of genomics in maternity services. The network is open to all midwives working in the East Midlands and East of England.
Next session: Wednesday 3 April 2025, 12pm - 1pm - Topic: Haemophilia - Identification and management in pregnancy and birth (condition of Haemophilia, inheritance patterns & identifying red flags within the family history, management of care for mother and baby during pregnancy & birth)
- Guest speaker: Dr Hamish Lyall, Consultant Haematologist, Norfolk and Norwich University Hospitals
To sign up for the meeting, and/or to join the Network, please email egmsa@nnuh.nhs.uk with the email subject 'RegMiggs'. | |
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| 23 April: Inherited Cardiac Conditons webinars | |
Our colleagues in the South East Genomic Medicine Service are running a series of webinars over the next three months on the subject of inherited cardiac conditions. Follow the links below to find out more, and register, for each session: | |
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| 5 May: Rare Disease Event - Cambridge Rare Disease Society | |
Virtual event, 5 May, 5-7pm
Cambridge Rare Disease Society are welcoming a series of patients and carers with lived experience of rare disease to speak to them about what they most want medics to know about their life with rare disease. Speakers are to be confirmed, but we can confirm that Loretta MacInnes (see above) from our Patient and Public Voice Panel will be sharing her story. | | | |
This is an excellent opportunity to learn about the meaning of rare diseases as a concept, and why patient advocacy is so important. Hearing patient insights is an excellent way to look beyond the textbook at the real lives affected by the diseases we study and treat. Anyone interested in finding out more about rare diseases from the perspectives of patients are welcome to attend. You can register your place here. Follow @cambridgerds on Instagram for updates. | |
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| 20 May: Personalising Medicines with Genomics: What Pharmacy Professionals Need to Know about Clopidogrel testing | |
Join our North West GMSA colleagues for an essential workshop to: - Develop an understanding of precision medicine and the role of genetics in stroke treatment and patient outcomes.
- Discover how ongoing CYP2C19 testing pilots in England will impact practice across all areas of pharmacy.
- Learn how you can support patient queries about genomics
Find out more and register here. | |
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| 1 May: Central & South Genomics Annual Summit | |
Central and South Genomics are holding their Annual Summit in Southampton on 1 May 2025. Attendees will hear about Central and South Genomics’ upcoming strategy for the next year, network with colleagues from across the region, get updates on ongoing work, and identify areas for collaboration. See the agenda, and book your place, here. | |
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| 8 May: NIHR Nursing and Midwifery conference | |
Open to nurses and midwives working across all health and care sectors, the full day event will celebrate the achievements of research minded and research active nurses and midwives and for those that are research curious to find out more about how they can become more involved in supporting, delivering and leading research. All details and the registration form are available on the registration site. | |
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| 9 May: Advancing Pharmacogenomics: Implementation, Innovation, and Engagement event | |
The next national meeting of the NHS Pharmacogenomics and Medicines Optimisation Genomic Network is being held on Friday 9 May 2025. This full-day event brings together leading experts, researchers, and patient advocates to explore the challenges and opportunities in implementing pharmacogenomics in clinical practice. Find out more about the agenda and speakers, and register your free place here. | |
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| 21 May: Regional Nurses in Genetics and Genomics Network | |
Our Regional Nurses in Genetics and Genomics Network (RegNuGGs.net) brings together regional nursing professionals, educators and those in specialist roles that support the embedding of genomics in nursing. The network is open to all nurses working in the East Midlands and East of England.
Next session: Wednesday 21 May 2025, 12pm - 1pm - Topic: The evolving role of genomics in cancer - impacts and essential knowledge for nurses
- Guest speakers: Melissa Campbell-Kelly and Liz Lawrence (Programme Leads, Regional Genomic Clinical Practitioner Service)
To sign up for the meeting, and/or to join the Network, please email egmsa@nnuh.nhs.uk with the email subject 'RegNuGGs'. | |
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| 11-12 June: NHS ConfedExpo 2025 | |
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11-13 June: Curating the Clinical Genome Conference | |
This conference at the Wellcome Genome Campus brings together leading initiatives to establish common standards, share best practices, integrate recent research and drive improvements in patient care. Find out more here. | |
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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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