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| Improving efficiency and appropriateness of genomic test requests | |
Further to our recent communication on supporting you to make the best and most appropriate use of genomic testing for your patients, this month we wanted to highlight the importance of using the correct test order forms.
Providing comprehensive information using the right forms helps to ensure the right tests are run for the right patients. Please check the latest version of the National Genomic Test Directory to ensure your patient is eligible for the test you are ordering. Please also include all relevant clinical information. Testing will not be activated without all of this in place.
East region Test Order Forms: | |
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| Test Directory Updates July 2025 | |
Below are details of updates to the National Genomic Test Directory for both cancer and rare disease in July 2025:
WGS in breast cancer and ovarian cancer More stringent eligibility for whole genome sequencing in triple negative breast cancer (M234) and high grade ovarian cancer including endometroid (M233). Guidance notes have been added to all parts of the directory to provide additional information about patient eligibility, which includes the following: "Tests should only be requested where there is clear evidence that a result is highly likely to change clinical management of the patient or their family". See our website for full details.
Twist haem-onc panel From Monday 21 July, an updated version of the Twist haem-onc panel used to process next-generation sequencing (NGS) tests in our Cambridge lab will be available. The expanded panel now includes over 100 genes and improves the efficiency of test processing. See our website for full details.
NEW: We have created a new, searchable web page covering updates made to both the Cancer and Rare Disease NGTD. You can view the page here. | |
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| Solid cancer sample processing delays, Cambridge | |
Our Cambridge lab is currently experiencing delays in returning results for next-generation sequencing (NGS) tests on solid cancers. We apologise for any inconvenience this is causing.
The delays are due to an unusually high volume of referrals and unplanned hardware downtime affecting our sample processing procedures. We are addressing these issues and expect to return to expected turnaround times within the next 3-6 weeks.
To request urgent sample processing please indicate on the order form or contact the lab.
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| NHS Genomic Medicine Service Procurement | |
Since 2018 the NHS Genomic Medicine Service (GMS) has worked to enable patients in the NHS in England to equitably access cutting edge genomic testing and clinical services that support diagnosis and treatment pathways for cancer, for rare and inherited disease and, in the application of pharmacogenomics, for medicines optimisation.
With Lead Provider contracts due to expire on 31 March 2026, there is now an opportunity for the Commissioner to explore the potential to establish a ‘Single NHS GMS’ model by bringing together the existing functions of the NHS Genomic Laboratory Hubs and the NHS GMS Alliances into singular functions of the NHS GMS.
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| UK Government release NHS 10 Year Plan | |
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On 3 July 2025, the Government published its 10 Year Health Plan for England, setting out ambitions for the NHS over the next 10 years. The Plan outlines three key shifts over the next decade are:- from hospitals into the community
- from analogue to digital
- from treatment to prevention
Genomics is mentioned throughout the168 page document, and is one of five ‘big bets’ set to accelerate health care reform through innovation (alongside data quality and interoperability for research and innovation, AI, wearables and robotics).
In particular the Plan signals a shift in how genomics is used, from something at the very specialist end of treating cancers and rare diseases, to being widely used ‘in routine preventive care’ and to ‘mainstream genomics population health’.
Here are some examples of how genomics will play a key role: - Genomics population health service
- Polygenic risk scores (PRS)
- Universal newborn genomic testing and whole genome sequencing
- Pharmacogenomics
- Neighbourhood Health Services
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| UHDB reaches 1000th participant recruited to Generation Study | |
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The maternity team at University Hospitals of Derby and Burton NHS Trust (UHDB) recently recruited their 1000th participant to the Generation Study, which is recruiting expectant families nationally, including at several hospital sites here in the East Midlands and East of England.
This is an impressive achievement in the 6 months since the team first began recruitment! As well as UHDB, in our region recruitment is underway at Cambridge University Hospitals, University Hospitals of Leicester and Norfolk and Norwich University Hospitals, with Nottingham University Hospitals currently in the set-up phase.
This Genomics England-led study is aiming to recruit up to 100,000 newborn babies to test for over 200 rare genetic conditions, and has recruited over 13,000 families to date. The sequencing identifies treatable, rare conditions shortly in otherwise asymptomatic babies where symptoms might not present until later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions. Find out more about the Generation Study.
Awareness sessions for health visiting teamsHealth visiting teams who work in areas where hospitals are delivering the Generation Study (GS), will be supporting babies, children and families participating in the Generation Study.
iHV is launching monthly 1 hour online forums for all members of these health visiting teams, to deepen understanding of the GS and issues that may arise in practice: - Mon 11 Aug, 12:30pm: The pathway of care the Generation Study provides for a condition suspected result and how this aims to differ from the current diagnostic odyssey
- Weds 10 Sep, 12:30pm: No conditions suspected – joining the dots with families
- Tues 14 Oct, 12:30pm: Developing optimum support for babies, children and families participating in the Generation Study amongst the NHS workforce
iHV is providing a further awareness session on Mon 28 Jul, 12.30pm for all members of health visiting teams where their hospital is delivering the GS.
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| Breakthrough for teen who lost four family members to inherited condition | |
A teenager who lost four family members to a rare genetic condition has become the first person in Europe to receive a “life-changing” drug after it was approved for use on the NHS.
Mary Catchpole, 19, also has activated PI3-Kinase delta syndrome (APDS), a rare inherited disorder that leaves people with a significantly weakened immune system. Patients with APDS are vulnerable to recurrent infections, often facing a lifetime of antibiotics and invasive medical procedures in an attempt to manage their health.
Mary’s mother’s side of the family has been badly affected by APDS – her mother Sarah died aged 43 in 2018, her aunt Helen died aged 12, her uncle Edward when he was 39 and her grandmother Mary when she was 48. Now, thanks to researchers in Cambridge who identified APDS, Mary has received a new drug to treat it at Addenbrooke’s Hospital in Cambridge. Read more. | |
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| Haemochromatosis UK Week, 7-11 July | |
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Genetic Haemochromatosis (GH) is an autosomal recessive disorder, which means that the risk of absorbing excess iron is higher if both copies of the gene are abnormal.
People with Celtic ancestry are far more likely to be affected. Hereditary hemochromatosis is the most common autosomal recessive disorder in White populations, with a prevalence of 1 in 300 - 500 individuals. Many people with GH can immediately identify Celtic family roots. However it is important to understand that the condition can affect people of all ethnicities, it is just more prevalent in people with Celtic roots.
Genomic testing for Haemochromatosis is available via the National Genomic Test Directory for Rare and Inherited Disease (test R95). You can find out more about eligibility criteria on page 139 of this document. You can also find out more about testing guidance and forms on our website.
Resources | |
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Patient perspective... "Raising awareness of Genetic Hemochromatosis is vital to prevent patients going undetected for decades and suffering with complications later in life, just because the symptoms were not correctly picked up in primary care.
"Furthermore, having the right genomic testing can identify other close family members who may also be affected by this condition. I was diagnosed with GH in my late 50's, and had never heard of the condition, but it transpires that many members of my family have had this condition leading to liver and heart disease in their 70’s" | |
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July/August awareness dates | |
There are a number of health awareness dates in July and August linked to genetics and genomic testing. Below we have listed some of these, 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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| Updates from the Genomics Education Programme | |
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| Yellow Card Biobank acute pancreatitis call | |
The Yellow Card Biobank Team - part of the Medicines and Healthcare products Regulatory Agency - recently launched a new initiative for people who have experienced acute pancreatitis while taking GLP-1 medicines like Ozempic or Mounjaro.
The aim of the Yellow Card Biobank is to improve understanding of how a patient’s genetic makeup may increase their risk of experiencing side effects of medications. Doctors and pharmacists will use the results of this research to help prevent patients from experiencing harmful side effects by ensuring patients are prescribed the safest medication for them, based on their genetic makeup.
You can read press coverage on the inititaive here and find out more on the Yellow Card Biobank website, including details of how patients who have had acute pancreatitis can get involved. | |
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| What Sickle Cell and Thalassaemia can teach us about community choice, and carriers | |
A blog has been published exploring how genetic counselling can empower those who may be carriers of inherited blood disorders. The author, Dr Rossby Awadzi, is a GP trainee and Sickle Cell Clinical Fellow at NHS England with a passion for red cell medicine."Genetic counselling should be a calm in the storm. It should clear up myths, give real options, and remind people that knowledge is power, not punishment". Read the blog and share with your networks | |
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The latest episode of The Road to Genome podcast features Dame Janice Sigsworth, Chief Nursing Officer, about her work helping embed and share genomics with Nurses and Midwives across England. Listen here or wherever you get your podcasts.
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| Cambridge Children's Hospital team win Cancer Research UK award | |
Cambridge Children’s Hospital Innovation Hub have won the Further, Faster, Together (Industry-Academia Collaboration) award, one of several categories of Cancer Research UK's Innovation and Entrepreneurship Awards.
The Awards celebrate the people who embody the leadership, collaboration and determination needed to navigate the many challenges between the lab and the market, drive innovation and inspire a new generation of entrepreneurs to tackle cancer. Cambridge Children’s Hospital Innovation Hub is a collaboration between Cambridge University Hospitals and Illumina to accelerate genomic diagnostics for children. By enabling rapid whole-genome sequencing and translational research, the team aims to better understand how diseases develop in childhood. Congratulations to all involved! | |
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| National Genomics Research Library (NGRL) | |
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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 in the NHS Genomic Medicine Service, who are being the opportunity to contribute to the NGRL because of their rare disease or cancer. It may also be useful for clinicians who are responsible for offering the NGRL to patients, or used for education &d training purposes. 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 the following resources: All documents can be found on the Genomics England website. If you do use, or have used, the video as part of discussions with patients, Genomics England ask that you complete their feedback form. | |
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| New genetic disorders discovered from the National Genomic Research Library | |
New research has uncovered two neurodevelopmental disorders using data from the NGRL. These findings have led to new diagnoses for patients and families, opening doors for potential future treatments.
Neurodevelopmental disorders are conditions that affect the way the brain develops and functions. Symptoms can range from mild to severe, often impacting motor skills, behaviour, communication and cognition. Neurodevelopmental disorders affect approximately 2-5% of people worldwide. They can often arise due to genetic changes in a person’s genome, which can be inherited from parents, or appear in a person with no family history.
Three new pieces of research have analysed genomic data from thousands of participants who volunteered their data to the NGRL. Published in Nature Genetics, the two new neurodevelopmental conditions have been named RNU2-2-related disorder and RNU5B1-related disorder, and both are caused by genes in the non-coding genome. Read more. | |
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| Course: Health and Care Research Explained | |
The East of England Research Delivery Network (RDN) are inviting applications to a Health and Care Research training course open to all research staff. Modules include Lessons from Research, Delivery of Research and Study Feasibility & Set-up. Places are available for course start dates of 24 July and 7 October 2025. Please find the application form here. | |
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Events, education and training | | |
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| Upcoming Communities of Practice | |
Here are some upcoming meetings, with registration links, for our Genomics Communities of Practice: | |
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| 16 July: Regional Network meetings for Nurses and Midwives | |
Regional Midwives in Genetics and Genomics Network 16 July, 1pm: 'When and how to make referrals to Clinical Genetics from Obstetrics & Gynaecology and Fetal Medicine Units'. We welcome guest speaker Dr Soo-Mi Park, Consultant in Clinical Genetics and regional lead for Endocrine Genetics and Prenatal Genetics (based at Cambridge University Hospitals NHS Foundation Trust). Register your place here.
Regional Nurses in Genetics and Genomics Network 16 July, 12pm: 'Inherited Cancers and how nurses have a frontline role in risk recognition and referral'. We welcome guest speaker Siobhan John, Inherited Cancer Nurse Lead for South West Genomic Service Alliance. If you would like to join please email our Lead Nurse, Anita Murphy, who will send you the meeting invite. | |
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| 17 July: True Face of Rare event | |
Chiesi and Metabolic Support UK are co-hosting an event on 17 July, 12-6pm at the QEII Conference Centre, London. The 'True Face of Rare' event is described as "a call to reimagine how people living with rare diseases are seen, heard, and represented" and will bring together voices from across the rare community in the UK: patients, carers, patient advocacy groups, clinicians, creatives, communicators, and decision-makers, to explore: What does true, authentic representation really look like in rare disease? Find out more and register your interest in attending here. | |
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| 23 July: National Genomics Lunch & Learn series | |
Next up in our series of national Genomics Lunch and Learn webinars is a session on Wednesday 23 July on Practical family history taking skills for holistic care.
This 45 minute webinar is free to attend and is aimed at anyone working in healthcare wanting to learn more about the application of genomics to their clinical practice. It will be delivered by our Nursing and Midwifery Leads, Anita Murphy and Jo Hargrave. Register your free place today.
Sessions: | |
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| Master's-level funding for 2025/26 | |
The Genomics Education Programme have announced that the funding application process is now live for Master’s-level CPPD modules and qualifications in genomic medicine. These are delivered by seven university partners across England. Funding is available for individual modules, or for up to four modules initially to achieve a postgraduate certificate, with potential to build to a postgraduate diploma or full Master’s degree. Click here to learn more and how to apply. | |
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| 15 Aug: Our voices, our stories: Lived experience of genomic testing | |
This webinar will explore the lived experiences of people who have gone through genomic testing, research and diagnosis. Each of the webinar participants has a unique and impactful story, and will provide powerful insights into the human side of the genomic testing process. With experiences across cancer and rare disease, from parent carers through to those diagnosed as adults, it will shine a light on the emotions involved in testing, diagnosis and treatment. Find out more and register your place. | |
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| 15 Oct: EI Innovate event | |
EI Innovate is the annual engagement event of the Earlham Institute, Norwich, which aims to achieve impact from research and expertise through collaborations and partnerships. This year's event will focus on the innovation journey, with examples of how the EI nurtures and develops early career scientists. You can view the programme and register here. | |
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| 4-5 Nov: Respiratory Genomics Conference | |
Registration is now open for a two-day Respiratory Genomics Conference taking place in Leicester. 4-5 November 2025. Keynote speakers spanning genetic epidemiology, functional genomics and respiratory medicine include: - Catherine John (University of Leicester) | Darrell Kotton (Boston University) Francesa Polverino (Baylor College Medicine) | Jenny Dickens (University of Cambridge) | Om Kurmi (University of Coventry) | Amadou Gaye (Meharry Medical College) | Erik Melen (Karolinska Institutet) | Stefano Guerra (University of Arizona)
Registrations can be submitted here. The deadline for abstracts is 19 September. More information can be found on the conference website. | |
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| 6 Nov: Cambridge Rare Disease Network RAREsummit25 | |
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| Genomics for Primary Care Practitioners | |
On 20 November 2025, Central and South Genomics is hosting a one day (9am - 5pm) Genomics for Primary Care Practitioners course at the University of Birmingham Medical School. This event will give participants a better understanding of the significance of genomic medicine for primary care patients. It will cover:- a workshop on identifying predisposition cancer in family histories and when and how to support carrier testing.
- pharmacogenomics
- diagnosis and management of Lynch Syndrome
- hereditary hemochromatosis and familial hypercholesteremia diagnosis and management.
To register your interest, please fill out the application form and Central and South GMS will be in touch. If you have any questions, please email vicki.geddes@uhb.nhs.uk. | |
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| 4 December: UKCGG Winter Meeting | |
Please save the date for the United Kingdom Cancer Genetics Group (UKCGG) Winter Meeting on Thursday 4 and Friday 5 December 2025. The meeting will take place over two morning sessions and will be held virtually via Zoom. Further details and registration will be available soon, and shared via this newsletter. You can find out more about the UKCGG on their website. | |
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| Events calendars of other organisations (A-Z) | |
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New on our website:
Genomic Testing: | | 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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