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| Welcome to the December issue of our Nursing and Midwifery quarterly update featuring genomics news, resources and events within our region and nationally. | |
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| NHS Genomics Summit registration now open | |
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Registration is now open for the 2025 NHS Genomics Healthcare Summit. The event will be held across two days on Monday 15 December and Tuesday 16 December 2025 in London, at the Queen Elizabeth II Centre.
The agenda is available here. Of particular interest is day 2 which features Professor Dame Janice Sigsworth, Director of Nursing at Imperial College Healthcare, in a session on The NHS Workforce plan: Supporting the workforce to use genomics and various speakers taking part in a session on Prenatal testing and newborn screening. You can register to attend one or both days here. | |
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| Glucokinase Hyperglycaemia diagnosis following a gestational diabetes diagnosis | |
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Glucokinase hyperglycaemia is a rare form of monogenic diabetes caused by a change in the glucokinase gene. In pregnancy, recognising this condition is important, as management differs from other types of diabetes and has important implications for the pregnancy.
To support clinicians, the updated e-learning module on glucokinase hyperglycaemia in pregnancy will be live from Thursday 3 December. The module explores how genomics distinguishes monogenic GCK hyperglycaemia from multifactorial gestational diabetes, how maternal genotype and fetal inhertance shape outcomes for mother and baby, plus testing strategies, tailored treatments and family implications for long-term care.
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| NHS Genomic Medicine Service at Nursing Live | |
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In November, our Lead Nurse, Anita Murphy (pictured left) joined nursing and midwifery colleagues from GMSAs across England at the Nursing Live event. Together they hosted a stand to raise awareness of genomics and its growing impact on nursing practice. Between them they managed to speak to over 230 nurses at the stand!
Anita and Liz Bancroft (right), Chief Nurse at North Thames GMSA, also delivered a presentation on genomics in cancer, rare diseases, and pharmacogenomics, highlighting how these developments are shaping the nursing workforce now and into the future.
The event was well attended, with insightful presentations from Nursing Leaders across the UK. We were pleased to hear from Duncan Barton, Chief Nursing Officer for England, who spoke about key issues affecting nursing staff, including wellbeing, career progression, and workforce retention.
We now await the publication of the Professional Strategy for Nursing and Midwifery, which will play an important role in shaping our long-term planning. This strategy is expected to align closely with the 10-Year Plan and the Genomics Nursing and Midwifery Framework, helping us continue to develop a forward-looking workforce. | |
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| Project on Genomic Services Provision in the Context of Fetal Loss | |
Supported by East Genomics, this project is assessing current practices, developing recommendations for shared pathways, and exploring how genomic insights - particularly postmortem and stored fetal DNA - can better inform future pregnancies.
The project team are conducting interviews with bereavement midwives to explore how counselling around postmortem and genomic testing is currently delivered, as well as highlighting examples of excellent care, identifying barriers and gaps, and assessing the availability and effectiveness of educational resources for clinicians.
You can hear from the project team at our January Prenatal Genomic Community of Practice meeting. We will be adding educational tools and resources to the project web page in the coming months. | |
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| BGSM position statement on direct-to-consumer genomic testing | |
To support healthcare professionals working in primary care and community settings a position statement was released by the Direct-to-consumer genomic testing Working Group. This document provides information for health professionals who may be asked to interpret results of DTC - GT as there is considerable variation in the quality and validity of these tests. Healthcare professionals should exercise caution if asked to interpret such results. | |
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| Can you support the roll-out of CamRARE's patient passport? | |
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A paper published in the European Journal of Human Genetics supports the roll-out of the This Is Me Rare Disease Patient Passport, developed by Cambridge Rare Disease Network. 'Patient passports’ support communication and healthcare coordination by sharing healthcare information with Healthcare Professionals (HCPs), which has been shown to reduce the burden on patients and caregivers. Despite this, currently no widely adopted passport addresses the multifaceted needs of patients with rare diseases.
CamRARE developed the This Is Me Rare Patient Passport in collaboration with Unique Feet families and medical professionals. Designed to address the unique needs of individuals with rare conditions, the passport aims to provide comprehensive but succinct personalised information about a patient in a way that standard health passports do not.
The pilot study reports that 72% of families who used the passport during care interactions found that it eased communication with unfamiliar teams, and 64% felt more confident communicating their needs. Over half felt the passport helped access needed care, 68% found it more useful than existing tools, and 76% were highly likely to recommend it to peers.
All 31 HCP respondents listed perceived benefits, including improved HCP-patient/caregiver communication. By alleviating patient/caregiver-HCP communication challenges, this rare-disease-specific patient passport can enhance healthcare coordination and patient experiences.
The CamRARE Rare Patient Passport is a printable PDF. Supplied with guidance notes, it’s easy to complete and keep updated. It can be used as an A4 page, or folded to fit in a lanyard wallet. Find out more on the CamRARE website. | |
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| Genomic newborn screening in the NHS: Survey for NHS professionals | |
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The Generation Study is a research study that will sequence the genomes of 100,000 newborn babies to look for a defined set of treatable rare genetic conditions.
The aims of this survey are to: Capture what NHS professionals think about genomic newborn screening in the Generation Study Understand if and how NHS professionals have been impacted by the Generation Study Explore what NHS professionals think about offering genomic newborn screening routinely in the NHS
Genomics England would like to hear from NHS professionals from a range of backgrounds, including midwifery, obstetrics, fetal medicine, paediatrics, general practice, genetics and health visiting.
The survey will take around 20 minutes to complete and is anonymous. You can take the survey here. You do not need to have experience or knowledge of genomics or the Generation Study to take part; everyone’s opinions, views and experiences are valuable.
This survey is part of an independent Process and Impact Evaluation of the Generation Study that has been commissioned by Genomics England. The Evaluation is being led by researchers at UCL. For more information about the Evaluation see here.
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Generation Study in the news...A boy born with a rare form of eye cancer, usually diagnosed in very young children, is one of numerous babies born with rare conditions who are receiving earlier diagnoses and faster, lifechanging treatment through the Generation Study.
Four weeks after being born, Freddie was diagnosed with hereditary retinoblastoma through the Generation Study. | | | |
Very shortly after his diagnosis, Freddie was able to start treatment at Birmingham Children's Hospital, which is one of two specialist centres that treat retinoblastoma in the UK. Freddie has undergone a mix of chemotherapy and laser treatment to treat the tumours in his eyes. Due to the nature of retinoblastoma and the genetic change involved, Freddie will need ongoing treatment, monitoring, and specialist care for the foreseeable future. He will be having regular eye screenings up until the age of 16 in Birmingham.
Joey Underhay, Freddie's dad, said: "Our decision to join the Generation Study has changed Freddie’s life phenomenally. We were told that the first 6 months is vital in diagnosing and treating the condition. There’s no telling at what point it would have been discovered if we hadn’t taken part and what might have happened".
Vicky Underhay, Freddie's mum, added: “When you sign up to research like this, you think it will never be you. But if we had thought ‘ignorance is bliss’ then the cancer would have spread down his optic nerve and into his body. We’re hopeful that this kind of testing will be readily available to any parent who wants it for their child in the future.”
The chances of protecting Freddie's eyesight have been greatly improved by finding out about his eye tumours earlier, thanks to the family participating in the Generation Study...Read the full story here. | |
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| Whole Genome Sequencing for cancer in patients aged 17-25 | |
We are working with clinicians, laboratory colleagues and patient groups to review patient information on, and equity of access to whole genome sequencing for teenagers and young adults with cancer.
As part of this work, we are seeking the input of patients in the 17-25 age group to take part in some engagement sessions to better understand people's experiences of their cancer diagnosis, including WGS testing, and the patient information currently available.
For patients If you have links to cancer patients in this age group, or local cancer PPIE groups within Trusts or charities, please share this link, which enables patients to register their interest in taking part.
For healthcare staff As part of their genomics and clinical trials subgroup, national cancer Charity CCLG: The Children and Young People's Cancer Association are exploring what genomic resources are available for young people (aged 16-18) with cancer across the UK. This is to help identify any gaps or barriers to testing for these young people.
If you work in TYa cancer pathways, please complete this short survey. Responses can be anonymous, or you can include your email if you would like updates from the survey and ongoing work.
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| Help East of England Cancer Alliance understand regional service needs | |
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A baseline survey was completed at this time, giving an understanding of education needs and contributing to the workplan that ensued. Thank you if you took part in the survey. Now 18 months on, the EoE Cancer Alliance would like to reassess and establish the region's understanding and service needs.
We would very much appreciate your support in doing that by completing one of the following surveys, relevant to your area of practice: | |
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| Help shape the use of genomic information in adult population healthcare | |
The Government has funded Genomics England to deliver a new, long term research study to explore the use of genomics for adults to improve prevention or early detection of ill health.
Genomics England is taking its first steps to design this research study, which includes engaging with people in society, in communities, and working in healthcare to shape this. | | | |
If you are a healthcare professional working in England who may work with genetic information now or in the future particularly:- Working in primary care, community care, family history clinics, and delivering public health services such as screening, smoking cessation or weight loss support. This includes GPs, practice nurses, health visitors, community pharmacists and other professionals who may encounter genetic information in their healthcare practice now or in the future.
Find out more and access the survey here (closes 5 January 2026). | |
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Have Your Say: UK Health Screening Committee consultations | |
Fragile X Syndrome (FXS) FXS is the most common inherited cause of intellectual disability and a leading genetic link to autism spectrum disorder. It results from a genetic change that affects brain development and can lead to learning difficulties, anxiety, seizures, and gastrointestinal problems. The UK National Screening Committee has opened a consultation on whether antenatal and newborn screening for FXS should be introduced. You can share your views and get involved in the consultation here. You can find out more about fragile X via GeNotes.
Prostate Cancer Please find here a Q and A to help the NHS Genomic Medicine Services and wider stakeholders answer questions from patients and the public on the draft recommendation to offer a targeted national prostate cancer screening programme to men with a confirmed BRCA1/2 gene variation every 2 years, from age 45 to age 61. You can submit your views as part of the consultation here. It is open until 20 February 2026. NHS England will explore how prostate cancer screening could be delivered, should a screening programme be recommended following the consultation, and receive Ministerial approval. | |
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| HCPs in genomics: Opportunity to join a new research network | |
Submitted by Jonathan Roberts, Clinical Lead for Genomics, East Suffolk and North Essex NHS Trust
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"If you are ever in Cambridge, you might walk past a pub called the Eagle. It was here that Watson and Crick announced the discovery of the structure of DNA. The plaque outside bears a quote by Watson, who announced that he and Crick had “discovered the secret of life.
This type of language has followed genetics ever since. At the completion of the Human Genome Project, it was announced that we “are learning the language in which God created life.”
I’m all for embracing excitement and optimism, but sometimes this language can feel like it’s obscuring the complexities of implementing genomic medicine. Addressing these complexities involves answering tough questions, such as: How do we translate genomic testing into better patient care? How do we manage uncertainty and patient expectations? And how do we implement genomic testing within a system already facing health inequalities?
The answers to these questions – and many others - will be complex. Answering them will require research. Our group believes this research would benefit from wide representation and engagement from a diverse group of healthcare professionals. Our paper outlining our views on this topic can be found here.
Because of this, we are developing a research network for nurses, midwives, AHPs, and genetic counsellors. We hope to provide a space to support people from these backgrounds who want to contribute more to research and to champion the value of research, based on the strongly held conviction that research is a frontline service. We are asking for people's views on such a network – what would it need to look like to be of real help - and there is still time to share your views here."
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East Genomics Prenatal Community of Practice | |
Join us for for our next Prenatal Genomics Community of Practice meeting on Friday 16 January 2026 when we will explore key findings and future recommendations from a regional service improvement project focused on genomic testing following fetal loss. You can register your free place here.
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| National Genomics Lunch & Learns | |
Our national Genomics webinars are aimed at anyone in a healthcare role — nurses, doctors, AHPs, pharmacists, midwives, and all healthcare professionals with an interest in knowing more about genomics and its relevancy to their clinical practice. The series has been designed and developed by healthcare professionals, for healthcare professionals. This session will include a brief overview of Huntington's Disease and its progression, patient pathways and care coordination, and latest research and advanced therapies. | |
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The Genomic journey in maternity: a guide for midwives and neonatal teams | |
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On Wednesday 20 January 2026 we will be putting a spotlight on the East of England for a half day webinar session on Genomics & the Newborn: Navigating Uncertainty, Early Conversations, and Testing Pathways in Newborn Care.
Join our Led Midwife, Jo Hargave along with other expert speakers for sessions on communicating uncertainty, identifying early signs of potential rare conditions, and an overview of rapid sequencing in neonatal care. The event will also emphasise the lived experience of families. Find out more details here.
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Gene People Symposium: Generating the Evidence | |
Join the upcoming event on 5 February, 1pm - 4.30pm to explore how evidence for investment decisions, access to services, treatment approvals, drug appraisals, or funding for support groups and charities is generated through research, and why it's essential for driving change and improving lives. You can find out more here. | |
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Regional Nurses in Genetics and Genomics (NuGGS) NetworkRESCHDEULED: Weds 17 December 2025, 12pm - 1pm Join our Regional Midwives in Genetics and Genomics Forum for a (rescheduled from original November date) session exploring inherited cardiac conditions. Our guest speaker is Emma Hughes, Inherited Cardiac Conditions Specialist Nurse and Sudden Unexpected Death Co-Ordinator from the Norfolk and Norwich University Hospital NHS Trust. Register your place here. | |
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- Wednesday 21 January: Regional Nurses in Genetics and Genomics (NuGGS) Network, 12pm - 1pm
- Wednesday 25 February: Regional Nurses in Genetics and Genomics (NuGGS) Network, 12pm - 1pm
- Wednesday 25 March 2026 - Joint NuGGs and MiGGs network, 12pm - 1pm
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Education, Training and Resources | |
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Meet the East GMSA Nursing and Midwifery Team | |
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