| | | | | | | | | | Welcome to our quarterly newsletter where we share information on what has been happening in the world of genomics with Nurses and Midwives within the East of England and East Midlands | | | | | | | | | | Rare Disease Day on 28 February is an opportunity to highlight the experiences of people living with rare conditions and the work happening across our region to improve diagnosis, care, and support. You can find out how you can get involved on the Rare Disease Day 2026 website.
Here are some events, webinars and resources which may be of interest: - Rare Disease Day 2026 - Medics For Rare Disease - watch a new #LearnYourStripes video and share the M4RD annual #ShowYourStripes campaign.
- 23 February (12pm - 1pm): Genomics and Cholestasis - Professor Richard Thompson explores genotypes and phenotypes in cholestasis.
- 27 February 2026 (4pm - 6pm): Join CamRARE at the DISC, Cambridge Biomedical Campus, for Living Rare: Reflections Across a Lifetime. Through lived-experience stories and a multidisciplinary panel, the event will explore what it means to live with a rare condition, from first symptoms and diagnosis through childhood, independence and adulthood, and how systems across healthcare, research and industry can better respond across the life course.
- 24, 25 and 27 February: Our counterparts in the South East are hosting three patient talks to mark Rare Disease Day. You can register to hear conversations with Charlotte Doody, Mum to Maisie, Diana, GP and Mum to Sebbie, and Dharmisha, Mum to Sebastian.
| | | | | Generation Study: Sharing stories | | | | On a note of rare conditions, the Generation Study is in full swing and research sites have opened across the East of England and East Midlands.
To promote the start of recruitment at Nottingham University Hospitals, in January we released the story of Priya and Abhishek Pancholi and their experiences of losing their first child, Aarav, to Spinal Muscular Atrophy, and the support they received at University Hospitals of Leicester to conceive their second son, Rohan, through PGT.
When Rohan was born in January 2025 his parents consented him to the Generation Study, which confirmed that he did not have SMA, or any of the 200+ rare genetic conditions screened for on the Generation Study. | | | | | | | Genomics and the Newborn: A Spotlight Event | | | | East and North Thames Lead Midwives brought together nurses, genetic counsellors and midwives and the support organisation Unique for an engaging overview of how genomics is shaping newborn care.
If you missed it, the catch‑up offers a clear look at how rapid genomic testing supports earlier diagnoses, guides treatment and improves outcomes for babies and families.
Speakers shared real clinical examples, explored ethical considerations and highlighted what the workforce needs to know as genomics becomes part of everyday practice. A valuable watch for anyone wanting practical, future‑focused insight into this evolving area. You can watch the session recording here.
| | | | | Genomic and Postmortem Pathways After Pregnancy Loss: Insights From a Multi‑Region Review | |
Genomic testing and postmortem examination are vital in understanding the causes of pregnancy loss and supporting families in planning future pregnancies. A recent service evaluation across the East of England and East Midlands explored how these pathways currently function and where improvements are needed. Fourteen maternity bereavement teams contributed detailed insights into consent processes, turnaround times, training, and barriers to investigation.
Findings showed that: - Pathways are often slow and fragmented, with postmortem results taking anywhere from two to twelve months due to national shortages in perinatal pathology.
- Variation affects both uptake and the quality of consent conversations.
- Access to trained consent staff was inconsistent, and no standardised national training pathway existed.
- Teams also reported challenges such as invasive procedures, clinician knowledge gaps, complex documentation, and conflicting national and local testing criteria.
The evaluation highlights the need for streamlined pathways, stronger regional collaboration between maternity services, perinatal pathology, and clinical genetics, and a national approach to consent training. When families decline invasive investigations, consistent use of external medical photography can help preserve future diagnostic opportunities. Improving coordination across the system is essential to ensure equitable, timely, and safe care for bereaved families.
The team shared their findings within the East Genomics Prenatal Forum. If you would like to listen to the full presentation you can access it via our NHS Futures page here (if you haven't already done so, you will need to request access using an NHS email).
Project Team: - Dr Rachel Wooldridge – Consultant Obstetrician, East and North Hertfordshire NHS Trust
- Dr Jacqueline Eason – Consultant in Clinical Genetics, Nottingham University Hospitals
- Dr Pradeep Vasudevan – Consultant Clinical Geneticist, University Hospitals of Leicester
- Demi Blair – Genomics Fellow, East GMSA, Subspecialty Registrar in Maternal and Fetal Medicine, Norfolk and Norwich University Hospitals
- Danielle Whittaker – Specialist Bereavement Midwife, East and North Hertfordshire NHS Trust
| | | | | East Genomics Cancer Patient Information Collaborative | |
Colleagues specialising in cancer genomics from our three regional Clinical Genetics Services (CGSs), together with the West Midlands CGS, have come together to standardise and update patient information leaflets (PILs) for cancer patients considering, or receiving results from genomic testing across our region. The group are working on over 70 PILs across prostate, breast and ovarian, pancreatic, endometrial, Haem-Onc and general cancer, as well as other genes and conditions. We have stared uploading approved leaflets to the A-Z Patient Information pages of our website. Available cancer PILs include: The leaflets have been designed to support local printing within Trust services, and the web links can be added to websites and patient communications (letters and SMS messages). If you would like to discuss requirements for use and/or printing of the leaflets within your service, please contact Ian Kingsbury. The group are inviting both patient and clinician feedback on the leaflets. You can use this link to provide feedback on any of the leaflets (please include the leaflet title and version number).
| | | | | Regional Nurses in Genetics and Genomics Network | | Join us for for our next RegNuGGs.net meeting on Wednesday 25 February 2026 when guest speaker Sophie Briggs, Haematology CNS Red Cell Service at Norfolk and Norwich University Hospitals, will give an overview of red cell conditions and introduce a new red cell service with a focus on the impact of genomics in nursing practice. You can register your free place here. | | | | | | | A spotlight on Mental Health and Genomics | | Genomics is becoming an essential part of understanding and improving mental health care from perinatal services to learning disability support and rare disease pathways. Nurses and midwives are at the heart of this shift, helping translate complex science into compassionate, person-centred practice.
Join us for for our next Joint Nursing and Midwifery in Genetics and Genomics Network meeting on Wednesday 25 March for three sessions on mental health in nursing and midwifery:- Bipolar disorder and postpartum psychosis - exploring the genetic link
- Form first concerns to shared understanding - Communicating rare disease
- Mental health and genomics - Implementing evidenced-based practice and reducing health inequalities
| | | | | | Forum for Genomics Research for Nurses and Midwives (ForGen-NM) | | Tootie Bueser, Director for Nursing & Midwifery at the South East Genomic Medicine Service (pictured left), and Suriya Kirkpatrick, NIHR Senior Research Leader (pictured right), co-chairs of ForGen-NM, have developed a new forum for nurses and midwives. We were keen to know more about what the forum was about and why nurses and midwives should join. | | | | Why did you create ForGen-NM? Genomics is increasingly central to the future of the NHS, shaping prevention, diagnosis, and personalised care. In our respective roles and as clinical academics, we are passionate about strengthening the contribution of nurses and midwives to research and ensuring they play a leading role in genomics. ForGen-NM was established to create a dedicated, inclusive space for nurses and midwives to connect, collaborate, and develop research capability in line with NHS England and NIHR priorities, and the NHS 10-Year Plan.
What gap does the network fill? While genomics is advancing rapidly, nurses and midwives remain under-represented in genomics research. The forum addresses gaps in mentorship, peer support, and visibility, responding directly to the O’Sullivan (Oschar) report’s call to strengthen and sustain the research workforce. Genomics as a cross-cutting topic should also facilitate collaborations which is needs in improvement in nurse and midwife-led research.
Who is it for? The network is open to nurses and midwives at all career stages, including students, clinical academics, research delivery staff, and those new to genomics research. We actively seek diverse voices across specialties and settings.
Immediate benefits Members gain access to a national peer network, shared learning, mentorship, and opportunities to contribute to genomics research discussions and collaborations.
What's next? Over the next year, ForGen-NM will focus on building research capacity, fostering collaboration, and amplifying the impact of nurse- and midwife-led genomics research.
Be part of shaping the future of genomics nursing and midwifery research. Register here for the next session which takes place online on Thursday 26 February at 4pm.
| | | | Showcasing excellence at the 2026 Festival of Genomics & Biodata | | | | Our Lead Nurse, Anita Murphy, co-presented at the recent Festival of Genomics about the role of lead GMSA Lead Nurse and Midwife in embedding genomics across the NHS with Denise Barnes, Lead Midwife at North East and Yorkshire Genomics.
The aim of the session was to showcase the importance of including Nurses and Midwives when considering embedding genomics into routine care, as highlighted by Fit for the Future: 10 year health plan for England NHS England which suggests up to half of all health encounters could have a genomics component to them by 2035. It is therefore vital that our nursing and midwifery workforce are genomically literate so they are able to support patients and carers.
The session also covered the importance of ensuring equitable access to genetic testing which was emphasised alongside the use of regional insights to identify and prioritise local groups. The consideration of the three key shifts within the 10-year plan included the transition from hospital to community-based care, alongside the need to focus on upskilling and increasing awareness among the nursing and midwifery workforce in primary and community care were also discussed.
Finally, incorporated within the session was our continued focus to highlight and share resources to support the upskilling of our NM workforce as the Nursing and Midwifery genomics learning passports (Genomics Learning Passport for Nurses and Genomics Learning Passport for Midwives), the national lunch and learn sessions and the Genomics Education Programme to ensure that clinicians know where to access relevant resources about genomics that can be used to support incorporating this into their clinical areas.
| | | | | National Genomics Lunch & Learns | | We continue to support the National Lunch and Learn programme an initiative aimed at increasing awareness of genomics in health for all health care professionals.
On 25 February you can join a session on 'Mental Health and Genomics - Implementing evidenced based practice and reducing health inequalities'. This session will cover the role of genomic investigations within mental health care, insights on how to implement evidence into practice and pharmacogenomics in mental health. Register your free place here.
On 2 March at we have a session on 'Respiratory Genomics Familial Pneumothorax - Genomic Insights for Clinical Practice' with guest presenters Kate Parrott and Professor Stefan Marciniak. They will be presenting a case study and discussing how to recognise, manage and follow up people with this condition and how the rare disease collaborative network can be utilised to help identify and follow up family members with this rare condition. Register your free place here.
| | | | | | | Upcoming Genomic Community of Practice meetings | | | | | | | | | The Digital Genomics Test Directory Service: What you need to know | | With genomics heavily featured in the NHS 10 Year Plan, it's crucial that we ensure the National Genomic Test Directory - through which clinicians can order genetic tests for their patients - offers an accessible and efficient service to a busy healthcare workforce.
With this in mind, teams across the NHS have been working on the digitalisation of the test directory, and the arrival of the Digital Genomics Test Service is well on its way.
To ensure users are up-to-date with the coming changes and equipped to effectively utilise the new service, on 11 March 2026, our colleagues at NHS Central and South Genomics are hosting a webinar to provide an overview of the programme, a demo of the digital service, and an understanding of the impacts and benefits of the service.
This event is for anyone whose role interacts with the National Genomics Test Directory, whether you're a scientist, ordering clinician or a digital leader. There'll be ample time for questions, and you can submit these ahead of time as part of the registration process. Register your place here.
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