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January 2026

Laboratory updates

New email for rare disease WGS in Cambridge
From January 2026, our rare disease WGS team has a new contact email. Please use this address to request tests (from outside Cambridge University Hospitals) or to contact the team for support: cuh.eastglh-rarediseases-wgs@nhs.net.


This address replaces the previously used emee.glh@nhs.net, which will be retired. The change will improve information security and data management. See our website for a step-by-step guide to ordering WGS test for rare disease.

Expanded criteria for testing to inform adjuvant breast cancer PARP inhibitor therapy
New Cancer Drug Fund (CDF) guidance issued in January 2026 means more patients could be eligible for adjuvant treatment with combined Olaparib and hormone therapy. Aligned with this, eligibility criteria for genetic test R444 (NICE approved PARP inhibitor treatment) has been updated. See the full update on our website.
Leukaemia testing in Leicester helps patients to access tailored treatments

Our Leicester lab has recently started to offer a targeted genetic test in acute myeloid leukaemia (AML). By offering this testing locally, the team hopes more results can be returned sooner, helping patients that can benefit to access targeted treatments.


The test can be used to identify a specific genetic alteration which, if present, means that the patient could respond well to a recently approved targeted therapy for AML. In a situation where time is of the essence, access to these test results can be vital for patient care. Read more on our website.

More Diagnostic Discovery reports now being sent

From January 2026 we will be sending out reports detailing findings from the NHS Diagnostic Discovery pathway relevant to participants in the 100,000 Genomes Project. If you receive a Diagnostic Discovery report, please review the findings and ensure they are passed to the patient as quickly as possible. Full guidance, and a recent presentation about Diagnostic Discovery, are available on our website here.

The Diagnostic Discovery pathway provides new diagnostic findings for patients who have had whole genome sequencing (WGS) either through the 100,000 Genomes Project or the NHS Genomic Medicine Service. These diagnoses are achieved through ongoing re-analysis of WGS data by Genomics England and are based upon discoveries made since the original testing was performed. 
Cambridge Genomics Laboratory virtual open day

On Monday 12 January our Cambridge lab hosted an online open day for prospective Scientist Training Programme (STP) applicants in Genomics, Cancer Genomics and Clinical Bioinformatics (Genomics) and anyone interested in becoming a Clinical Scientist in the NHS. You can watch the full recording below and find out more more about the STP here.

STP_Open_Day_Jan_26
Job opportunities

  • Services Director in our Cambridge Lab to play a key role in operational leadership. NHS Band 8d, deadline for applications is 8 February. Find out more.
  • Registered Clinical Scientist - Genetics, in our Leicester Lab. An NHS Band 7 role working across genetic technologies including NGS, microarrays and FISH. Deadline for applications is 16 February. Find out more.

Nottingham lab service delays
Our Nottingham lab is currently operating with reduced staff, as such some testing may take longer than usual, although teams are working hard to continue meeting target NHS turnaround times for as many tests as possible. See the full update here. We aim to have this issue resolved as soon as possible and will share further updates here as we make progress.

News and updates
Thousands at risk of inherited cancers to receive regular NHS checks through world-first genetics programme

Thousands of people at higher risk of developing cancer due to inherited faulty genes will be regularly checked and tracked by the NHS thanks to a first-of-its-kind national genetics programme.


The world-first genetic register, developed by the NHS, will collect patient information on over 100 genes linked to an increased risk of cancer, with plans for it to help fast-track thousands more people to screening and testing, while speeding up access to personalised therapy and trials.


Ahead of the government’s landmark new National Cancer Plan, England’s top cancer doctor said the genetic register comes as part of “a new era of early cancer detection” to help thousands more people to access tailored information, testing and risk-reducing interventions. Read the full news release here.


You can hear Dr Marc Tischkowitz, Professor of medical genetics at the University of Cambridge and an honorary consultant with the East Anglian Medical Genetics Service, talk about the cancer registry on the Naked Scientists podcast here.

Rare Disease Day is nearly here

Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for people living with a rare disease. Rare Disease Day is observed on the last day of the month, which is 28 February in 2026. 


If you are organising events, webinars or other awareness raising activities this year, you can drop us a line to let us know what you're planning - and if your posting on LinkedIn don't forget to tag us and we'll share your posts. The RDD26 website hosts social media templates, and templates to help you create promotional materials for use locally.


Here are some events, webinars and resources which may be of interest:

Highlighting the role of the East of England Cancer Alliance Genomics service this World Cancer Day
To mark World Cancer Day on 4 February 2026, the East of England Cancer Alliance Genomic Service are highlighting how they work across the East of England to deliver the genomics agenda. Their Genomic Clinical Practitioners work to facilitate, support and engage with primary and secondary care colleagues to develop pathways and embed genomic testing, and provide advice for all service users in cancer care. You can find out more about the education, training, pathway support and other services offered by the team on their website here.

Genomics and the newborn: Navigating uncertainty, early conversations, and testing pathways in newborn care

Genomics and the Newborn brought together medical experts including midwives, nurses, genetic counsellors, support organisations, and parent voices to explore the evolving role of genomics in newborn care. The agenda highlighted the importance of sensitive and empathetic communication when unexpected health concerns arise, alongside practical pathways for testing and early recognition of rare conditions.


Through sessions on communicating uncertainty, identifying early signs, and understanding rapid sequencing in neonatal care, participants learnt about both the clinical and emotional dimensions of genomic practice. The programme also emphasised the lived experience of families, ensuring that compassion and clarity remain central to care. The videos from this recent event - featuring our Lead Midwife Jo Hargrave - are now available to view online.

ctDNA Lung Cancer testing
All trusts who perform ctDNA testing in their Lung Clinics should now have set up their own procurement for supply of the testing kits.  If you have any queries regarding this, please contact Col Spencer:colin.spencer5@nhs.net.
Delivering a world-class Blood Group Genotyping programme

NHS Blood and Transplant are working in partnership with NHS England to deliver a world-class blood group genotyping programme to better match blood groups for people living with inherited anaemias like sickle cell disorder and thalassemia. 


By harnessing genomic data, this programme aims to improve compatibility, reduce adverse reactions and optimise patient outcomes. This initiative is part of a national effort to modernise transfusion medicine and deliver precision healthcare. Collaboration across NHS services, professional bodies and scientific leaders is essential to make this vision a reality. 


Call to action: The programme needs involvement from clinical teams responsible for patients with sickle cell, thalassemia and transfusion-dependent rare inherited anaemias to refer for testing. Learn more about the programme. For more information, email transfusion@nhsbt.nhs.uk.

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).

Congratulations to our Lead Nurse, Anita

Our Lead Nurse Anita Murphy recently graduated from King's College London with an MSc in Diabetes Clinical Care and Management.


Anita leads on genomics in nursing across our region (East Midlands and East of England). If you would like to find out more about the support, networks, education and training and opportunities available to nurses with an interest in genomics, see our website to find out more here.
Podcasts and blogs
News round-up
Research news
Generation Study in the news
To promote the start of recruitment at Nottingham University Hospitals, this month 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.
     
Study finds 7% of cancer patients carry genetic variants that increase chemotherapy risk - but access to testing appears equal
A new real‑world study from Nottingham University Hospitals has found that around 7% of cancer patients carry DPYD gene variants that can make standard chemotherapy drugs significantly more toxic. The study was co-authored by Guru Aithal, East Genomics Medical and Rare Disease Lead, and Srinivasan Madhusudan, East Genomics Cancer Lead (East Midlands).

The team analysed 1,478 patients treated with fluoropyrimidine‑based chemotherapy between 2021 and 2023 and found that 7% of all patients carried a DPYD variant. Variant rates differed slightly by ethnicity, but numbers were small for some groups. Crucially, socioeconomic status did not influence access to DPYD testing. 

Identifying patients with these variants allows clinicians to adjust doses and reduce the risk of serious toxicity. The authors highlight the need for continued awareness of DPYD testing among clinicians and patients, more comprehensive genetic testing methods to capture rare variants, and ongoing monitoring to ensure equitable access across the UK. Read more here.
     

International spotlight on the NHS England National Lynch Syndrome Transformation Project

A report on the national Lynch Syndrome (LS) Transformation Project has been published by the International Journal of Cancer. This national NHS England programme ran from 2021 to 2025 in all seven GMS regions, and was led by Kevin J. Monahan and Adam C. Shaw, from the North Thames and South East GMS regions respectively. Its aim was to make sure that people diagnosed with bowel cancer or endometrial cancer were routinely tested for LS, an inherited condition that increases cancer risk.


The programme helped cancer teams across England to improve testing by appointing LS champions in cancer teams, training doctors, nurses, and pathologists, and by supporting hospitals through the regional Genomic Medicine Service Alliances. It also helped teams offer genetic testing directly, without long waits, and created a national registry to record everyone diagnosed with LS.


As a result of the programme, testing of cancer samples increased from 43% to over 94% in bowel cancer and from 19% to over 94% in womb cancer. The number of people diagnosed with LS each year rose from 545 in 2020 to 1,394 in 2024. This is a 255% increase, far above the original target. Find out more on our website.

     
Study to target early support for NICU babies
A study is aiming to predict which babies in neonatal intensive care units (NICU) are most likely to need additional support before starting school. Cambridge University Hospitals NHS Foundation and the University of Cambridge will carry out the Babies' Longitudinal Outcomes, Omics and Milestones Study (Blooms). 

The research will investigate why children who have spent time in a NICU are more than twice as likely to fail a school readiness assessment, which measures how prepared a child is to begin formal education. Cambridge research shows that one in six children currently fails this assessment, compared with about one in three who has spent time in a NICU. Read the full story here.
     
Research round-up

Events, education and training
Recordings of webinars and training sessions
     
Upcoming Communities of Practice
Here are some upcoming meetings, with registration links, for our Genomics Communities of Practice:
Find out more about all of our 16 CoPs, including upcoming meetings and how to register, on our Genomic Communities of Practice on our website. You can access slides and recordings from previous sessions via the 'Clinical Specialisms' folders on our FutureNHS platform (please request access via the link).
     
5 Feb: 2026 Gene People Symposium

The 2026 Gene People Symposium will explore how evidence is generated through research, and why it's essential for driving change and improving lives. Attendees will delve into the challenges, opportunities, and future of evidence generation in genetic medicine. Find out more and register here.

     
National Genomics Lunch & Learn series
Next up in our series of national Genomics Lunch and Learn webinars:

These webinars are free to attend and are aimed at anyone working in healthcare wanting to learn more about the application of genomics to their clinical practice. You can also see our website here for recordings of previous sessions.
     
25 Feb: Patient Safety Forum 2026

The 2026 Patient Safety Forum brings together the patient safety community to discuss how to embed patient safety as a core purpose of health and care. You can find out more, see the full agenda and register your place on the event website.

     
25 Feb: Regional Nurses in Genetics and Genomics Network
Join us for a session on Wednesday 25 February 2026 at 12pm to hear Sophie Briggs, Haematology CNS Red Cell Services (adult and paediatric), Norfolk and Norwich University Hospitals (NNUH) 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.

The presentation will explore exciting learning and development opportunities as well as key considerations when establishing a new service and supporting patients throughout. Register your free place here.

     
27 Feb: Living Rare - Reflections Across a Lifetime
The DISC, Cambridge Biomedical Campus, 4pm - 6pm

Join Cambridge Rare Disease Network 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.
     
5 March: Renal Genomics Course
This short course provides a practical, clinically‑focused update on the principles and practice of genomic medicine in kidney disease. You’ll learn how to choose the right genetic test for a patient’s phenotype, interpret reports (including VUS), counsel patients and families, and apply genomics across common genetic kidney diseases including ADPKD, ADTKD and Alport syndrome.

     

11 March: HSJ Health SHIFT 2026 – Advancing Genomics, Diagnostics & Cancer Care

Under the banner of Health SHIFT: Early Intervention, HSJ is bringing together senior NHS leaders, clinicians, and partners on 11 March 2026 in London to accelerate progress across genomics, diagnostics, and cancer care - three pillars, three forums critical to achieving the ambitions of the NHS 10-Year Plan.

Whilst there is an opportunity to attend select sessions across the different events, HSJ ask you to select a primary forum to ensure the best possible experience for everyone.

     
18 March: Pharmacogenomics and Medicines Optimisation Network of Excellence event

The Hallam Conference Centre, London

You can register here for the next in-person Pharmacogenomics and Medicines Optimisation Network of Excellence event.

     
25 March: Joint Nurses and Midwives in Genetics and Genomics meeting
Connecting across nursing and midwifery teams, with updates on current priorities, our next meeting takes place on Wednesday 25 March 2026, 12pm - 1.30pm, shines a Spotlight on Genomic Insights in Mental Health and features three talks:
  • Bipolar disorder and postpartum psychosis: Exploring the genetic link – Jessica Yang Research Assistant, Division of Psychological Medicine and Clinical Neurosciences School of Medicine Cardiff University
  • From First concerns to Shared Understanding: Communicating Rare Disease - Jo Balfour, MD Cambridge Rare Disease Network (CamRARE)
  • Mental Health and Genomics:  Implementing evidenced based practice and reducing health inequalities - Nicole Eady Consultant Psychiatrist in Intellectual Disability and Mental Health Lead for North Thames GMSA

Find out more and register your free place here.

     
11 May: Breast Cancer Now’s Healthcare Professionals Conference 2026
Breast Cancer Now’s one-day conference is your opportunity to step back and explore topics and themes impacting breast cancer care with your peers. Attendees will hear exciting clinical updates, as well as plenary sessions on hot topics in breast cancer treatment and care. Interactive breakout sessions will cover best practice examples, information on support for your patients, and educational content you can apply in your role. This is also a chance for Breast Cancer Now to thank and support the healthcare professionals hub members, in a space designed to foster innovation, inspiration and inclusion. Find out more and register here.
     
23 June: Genomics England Research Summit 2026
Business Design Centre, London 
Registration is now open for the Genomics England Research Summit 2026. This in-person event will bring together leading experts, researchers, and clinicians from the genomics community to explore the breakthroughs shaping clinical care today and the innovations that will define the future. You can register your place here and submit a poster abstract here (deadline 20 March).
     
Events calendars of other organisations (A-Z)

Quick links

Contact us

  • 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.


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