Featured news
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Genomic study helps detect baby’s rare growth condition
Baby Safi started treatment for a rare growth condition after participating in the Generation Study, a national genomic screening study
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Rare Disease Day (28 Feb) 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.
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Genomics Primer4Pharmacy course
We have an exciting opportunity for those working in pharmacy in the East Genomics region (East Midlands and East of England) to attend a one day Genomics Primer4Pharmacy course.
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Public and patient involvement opportunities
Here are details of a couple of great opportunities for patients and the public in the East Midlands and East of England to get involved and help shape decisions about genomics in our region.
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National Cancer Plan launched
The National Cancer Plan, launched on 4 February 2026, sets out England’s next major phase of change to improve cancer outcomes over the coming decade.
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Leukaemia testing in Leicester helps patients to access tailored treatments
By offering IDH1 testing in AML, the lab are helping people to access targeted treatments sooner
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Genomics Conversation Week 2025 - Day 2 - Creating connections with colleagues
Day 2 of Genomics Conversation Week 2025 is all about 'Creating connections with colleagues'. Below you can read more about our Genomic Communities of Practice, including reflections from Clinical Leads on how they are bringing clinicians together to identify, and solve, issues and challenges.
Genomics Conversation Week 2025
The eighth annual #GenomicsConversation campaign takes place this week from 3 to 7 November 2025, helping healthcare professionals discover more about genomics and what it means for them, their practice and their patients.
NHS Genomics Summit 2025 - registration open
We are pleased to announce that registration is now open for the 2025 NHS Genomics Healthcare Summit.
Baby with rare eye cancer diagnosed and receiving lifechanging treatment earlier after genomic sequencing at birth
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.
Pilot study supports use of new rare disease patient passport
A paper published in the European Journal of Human Genetics supports the roll-out of the Rare Disease Patient Passport, developed by Cambridge Rare Disease Network.
Upcoming network meetings for nurses and midwives
Our Regional Midwives in Genetics and Genomics Network (RegMiGGs) and Regional Nurses in Genetics and Genomics Network (RegNuGGs) provide support to the embedding of genomics in maternity services and nursing across the East Midlands and East of England.
October is Breast Cancer Awareness Month: Meet Rachel Spence, Genomic Practitioner for Breast Cancer
October is Breast Cancer awareness month and Nottingham University Hospitals NHS Trust’s (NUH) first and only genomics practitioner for breast cancer wants to help raise awareness by sharing her story of how she was inspired to care and start her career at NUH after losing her mum to breast cancer at a young age.
Cambridgeshire GP Practice first in our region to recruit patients to study looking to minimize side-effects, and improve effectiveness of medications
A GP Practice in Cambridgeshire is the first in our region to take part in a national project which is looking to establish the feasibility of providing an NHS-wide diagnostic service to identify genetic changes associated with commonly prescribed drugs.
East of England Cancer Alliance 'Transforming Care Through Genomics Event
The East of England Cancer Alliance Regional Genomic Clinical Practitioner Service are hosting an educational event on Friday 19 September in Cambridge: "Transforming Care Through Genomics – A Day of Insight, Inspiration, and Innovation".
Upcoming Genomics Communities of Practice meetings
Below we give a roundup upcoming meetings for our 16 Genomic Communities of Practice, which span cancers and rare and inherited conditions. Meetings will be added to this page on a rolling basis, as and when topics are confirmed and registration links go live.
CanRisk training for breast cancer
CanRisk is an online tool that enables healthcare professionals to calculate an individual's future risks of developing breast and ovarian cancer using cancer family history, genetic and other risk factors. CanRisk also calculates mutation carrier probabilities in breast and ovarian cancer susceptibility genes.
Making the best use of familial hypercholesterolaemia (FH) genomic testing
It is vital for us all to work together to ensure that the NHS genomic medicine service provides the most efficient and effective support for patients.
NHS Genomic Medicine Service Procurement Update
The NHS Genomic Medicine Service (GMS) was launched by the Commissioner in 2018 and enables 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.
UK Government announce new 10 Year Plan for the NHS
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.
Addenbrooke's patient first in Europe to receive treatment for rare genetic disease
Mary Catchpole will be able to take one tablet twice a day to control the effects of her illness
Taking the fear out of Down Syndrome
When Sarah-Jane gave birth to Hannah with Down Syndrome, almost eight years ago, it was a shock for her and her husband, Sean, but now looking back it turned out to be less frightening than she first felt it would be.
Important change to requesting diagnostic cancer genetic testing (inherited cancers)
The eligibility criteria for diagnostic cancer genetic testing have significantly broadened in recent years, which has many benefits for patients and clinicians. But it also means that the East Anglia Clinical Genetics Service (CGS) no longer has the capacity to facilitate this type of test, and is instead supporting cancer teams to do this testing themselves.
Rare Chromosome Disorder Awareness Day 2025
Rare Chromosome Disorder Awareness Day 2025 is being observed on Thursday, 19 June 2025, bringing together families, advocates, and healthcare professionals to highlight the unique challenges and remarkable resilience of those living with rare chromosome and gene disorders.
Improving efficiency and appropriateness of genomic test requests
To ensure that patients continue to benefit from genomic testing in the current context of increased NHS financial pressures, it is important for us all to work together to maximise benefits for patients.
EVENT: Regional Midwives in Genetics and Genomics Network (RegMiGGs.net)
The next meeting of our Regional Midwives in Genetics and Genomics Network (RegMiGGs.net) takes place on Wednesday 16 July at 1pm.