Welcome to the East Genomics patient hub. The information below is intended for patients who use our services, people who live in the East Midlands and East of England that may need to use our services in the future and anyone wanting to find out more about genomic testing in the NHS.
This video explains what DNA is and how understanding the make-up of our DNA is essential for genetic and genomic testing.
Link: https://vimeo.com/296915437
Many of the differences in our DNA – known as variants – have no impact, but there are some that can affect our health. Variants may cause a genetic condition, such as sickle cell anaemia, or could influence our predisposition to develop a condition, such as breast cancer.
We can now sequence and analyse genomic information to inform healthcare. A person’s genomic information can sometimes be used to diagnose a condition, predict and prevent disease, and offer personalised treatment.
What is genomic medicine? This video provides the answer.
Link: https://vimeo.com/623468767?embedded=true&source=vimeo_logo&owner=43996787
Patient resources and support

- Beacon – rare disease charity for patient groups
- Cambridge Rare Disease Network
- Cardiac Risk in the Young – Young Sudden Cardiac Death
- Contact - for families with disabled children
- Gene People - genetic conditions support network
- Genetic Alliance UK - helping families affected by genetic, rare and undiagnosed conditions
- Healthtalk - shared stories of having a health condition
- HEART UK - the Cholesterol Charity
- Lynch Syndrome UK - information, supprt and education
- Macmillan Cancer Support - the UK's leading cancer care charity
- Medics 4 Rare Diseases- education for medical professionals
- NHS - Genetic and genomic testing
- Prostaid - Leicester-based charity
- Prostate Cancer UK - only UK charity solely focussed on prostate cancer
- RareConnect - connecting rare disease patients globally
- Rare Disease UK - national campaign for people with a rare disease and those who support them
- SWAN UK - Syndrome Without A Name
- Unique - Understanding Rare Chromosome and Gene Disorders