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Baby Freddie Generation Study

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.

17 Oct 2025, 9:27 a.m.
National lunch and learn series

Join our national Lunch & Learn series

Genomics is transforming healthcare - and it’s no longer a niche subject. From diagnosis to personalised treatment, genomic knowledge is becoming essential across all clinical roles.

17 Oct 2025, 9 a.m.
CamRARE patient passport (1600 x 1600 px)

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.

15 Oct 2025, 12:58 p.m.
Genomics Conversation week 2025 square

Genomics Conversation Week 2025

The eighth annual #GenomicsConversation campaign will take place from 3 to 7 November 2025, helping healthcare professionals discover more about genomics and what it means for them, their practice and their patients.

14 Oct 2025, 3:20 p.m.
RegNuGGs and RegMiGGs ICC

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.

13 Oct 2025, 1:31 p.m.
Breast Cancer Awareness Month - Rachel Spence

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.

6 Oct 2025, 4:02 p.m.
Using pharmacogenomics to personalise medications in for patients. Cambridgeshire GP practice first in our region to recruit patients to PROGRESS project,

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.

26 Sep 2025, 12:07 p.m.
CoPs square (1)

Upcoming Genomics Community of Practice sessions - October 2025

Since we started up 14 new Genomics Communities of Practice earlier this year, we have run over 60 sessions attended by hundreds of healthcare staff across our region.

16 Sep 2025, 10:31 a.m.
EoE Cancer Alliance event 19 Sep 2025

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".

11 Sep 2025, 11:48 a.m.
CoPs square (1)

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.

18 Jul 2025, 4:35 p.m.
CanRisk training Aug25 square

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.

18 Jul 2025, 3:32 p.m.
FH square (1)

Referrals for 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.

17 Jul 2025, 1:45 p.m.
GMS map

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.

14 Jul 2025, 1:43 p.m.
NHS 10 Year Plan 2025

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.

7 Jul 2025, 12:38 p.m.
(From left) Jimmy and Mary Catchpole

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

27 Jun 2025, 9 a.m.
Hannah - Rare Chromosome Day 2025

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.

19 Jun 2025, 9 a.m.
Inherited cancer testing

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.

16 Jun 2025, 3:08 p.m.
Rare Chromosome Disorder Awareness Day 2025

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.

6 Jun 2025, 8 a.m.
Right Test First Time

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.

5 Jun 2025, 1:13 p.m.
RegMiGGs.net July 2025

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.

4 Jun 2025, 10:44 a.m.