East Genomics

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For patients and carers

Welcome to the East Genomics patient hub.

The information provided here is intended for patients who use our services, people who live in the East Midlands or 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.

You can find information on genomics and genomic testing as well as the role of East Genomics.

Firstly, East Genomics is made up of:

  • East Genomic Laboratory Hub - which provides and coordinates the genomic testing for the region
  • East Genomic Medicine Service Alliance - which is helping to embed genomics into routine care locally and ensure equal access for all.

The importance of genomic information

A person’s genomic information can sometimes be used to diagnose a condition, predict and prevent disease, and offer personalised treatment.

Many of the differences in our DNA – known as variants – have no impact on our health or wellbeing. However, 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.

Genomic information can therefore inform healthcare.

Genomic information can aid treatment options

Genomic information can also be used to study individual responses to drugs (known as pharmacogenomics). When a gene variant - known as a permanent change in your DNA sequence - is associated with a particular drug response, there is the potential for drug choice or dosage to be reviewed. This helps to minimise adverse reactions.

Genomics and personalised care

Personalised care means people have choice and control over the way their care is planned and delivered.

Genomics is playing a big role in the advancement of personalised care and personalised medicine.

By highlighting small though often very significant differences between us it can provide the detail of the disease as well as predictions about disease risk that can help somebody choose a prevention and or treatment plan that is right for them.

Patient stories

Read about one family's experience of taking up a specific genomic test (known as Whole Genome Sequencing) in the hope of receiving a confirmed diagnosis for their daughter's extremely rare disease.

You can also read another case study, who also took up whole genome sequencing to determine his tumour type.

Whilst it's not possible for all tests to provide a positive result or diagnosis, when a diagnosis is given it's usually a great relief for parents who can then move on and start to consider, alongside the clinicians, the best next steps for their child.

We are building a number of patient stories across our GLH which highlight the role genomics has had for them. We would love to hear from others who have had a genomic test and who would like to share their story for the benefit of others. Please email our Communications Manager on lorna.hamblin@addenbrookes.nhs.uk if you would discuss sharing your experience.

Whole genome sequencing

If you have been offered whole genome sequencing (WGS) as the best test for you, or a family member, your clinician will give you all the information you need.

Further reading

We have developed a number of answers to some commonly asked questions about genomics and genomic testing. You can find these here.

The Genomic Education Programme by Health Education England (HEE) also has some useful information for those new to genomics and some bitesize courses which you may find interesting. What is genomics? - Genomics Education Programme (hee.nhs.uk) (opens in a new tab)