East Genomics

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Resources for patients

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.

NEW: May 2024

Webinar on patient passports and apps to support people with Lynch Syndrome and Rare/Inherited Conditions

Link: https://www.youtube.com/watch?v=W3qVPY2SmxE

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.

Genetics v genomics

Most people have heard of genetics in relation to healthcare. Genetics is the study of genes and their roles in inheritance – the way certain traits or conditions are passed down in genes from one generation to the next. In healthcare, genetics has typically focused on variations in a single gene when determining the cause of a health condition.

Genomics is an all-encompassing term that takes into account all the DNA in a person’s or organism’s genome – both the areas that code for proteins, genes, and those that do not, the non-coding regions. Genes account for just 1-5% of our complete set of genomic information, our genome. Genomics looks at how genes are expressed and the interplay between different genes.

Genomics vs Genetics diagram

Genetic testing involves the investigation of a single piece of genetic information for specific bits of DNA that have a known function. Through this, scientists can isolate the underlying causes of the specific genetic variant in question. Genomic testing involves the investigation of larger sections of genetic material and information. It's scope is broader and without a specific target.

What is genomic medicine? This video provides the answer.

Link: https://vimeo.com/623468767?embedded=true&source=vimeo_logo&owner=43996787

Why have genomic testing?

Your healthcare professional may order a genomic test for several different reasons:

Diagnostic testing – to confirm a diagnosis of a particular cancer or rare disease

  • when you display relative symptoms – ‘clinical presentation’
  • a yes/no test
  • can be used to confirm an initial diagnosis or alternatively to rule out a possible cause of the symptoms.

Clinical predictive testing – to assess your risks of developing a genetic condition and to guide preventative care

  • before you display any symptoms
  • usually when a family member has been diagnosed with a genetic condition
  • for a gene that is associated with a condition that is ‘actionable’ – it can be treated or the risk can be reduced with lifestyle changes and/or regular screening
  • for a condition that is not actionable but is sufficiently severe that you may want to know about it before making major life decision (such as starting a family).

Pharmacogenetic testing – to test how your genome affects your response to medication. This can include whether a particular medicine will be effective or ineffective, and how likely the medicine is to cause particular side-effects.

Tumour testing – to identify gene mutations present in the tumour cells that are either actionable (meaning targeted treatment can be offered), or warrant further study. This involves comparing the genomes of a patient’s tumour cells with those of the patient’s healthy cells. This can also help in identifying genes that are actionable in other ways, e.g. identify new research targets such as genes that are seen to be ‘driving’ cancers to develop and spread.

What's involved?

Genomic testing usually requires samples of your blood, saliva or tissue. The DNA is extracted from these samples and sequenced at your local Genomic Laboratory Hub, where specific areas or all of your genome is then analysed.

Depending on what the test is for, results may take days, weeks or sometimes months to be reviewed, finalised and fed back to you. You may also be referred for genetic counselling depending on the results.

A full A-Z Genomics glossary can be found on the Genomics Education website, part of the Genomics Education Programme delivered by Health Education England.

Genomic testing process stage 1
Genomic testing process stage 2
Genomic testing process stage 3
Genomic testing process stage 4
Inheriting genomic conditions

We inherit half of our DNA from our biological mother and half from our biological father. There are different ways that genetic conditions can be inherited (passed down) in a family.

Sometimes a child only needs to inherit one copy of a gene variant to have a condition or increased risk for a condition. This is known as dominant inheritance. Other conditions such as cystic fibrosis (CF) are recessive. If both parents carry a variant, there is a 25 out of 100 (25%) chance for a child to have CF. There are also other forms of inheritance such as X-linked. Sometimes the genetic variant is new in a child and is not present in either parent.

Genomic tests can help to understand what variants are present, and then the clinical and scientific teams work together to understand what the variant means for a person and their family.

Whole Genome Sequencing

Through the NHS Genomic Medicine Service, whole genome sequencing (WGS) is now available for certain conditions where the scientific evidence shows it can help improve patient care. Your healthcare professional will provide further information and you will be able to ask questions before you decide whether to have this test.

Further resources

Patient and data confidentiality

We have entered into a Joint Controller Agreement with NHS England which provides a framework for ensuring we comply with data protection requirements when processing patients' personal information.

Data that identifies patients directly is only available to the team providing care, outside of this it is de-indentified. 

Please visit the NHS England website (opens in a new tab) for more information. 

Taking part in research

The National Institute for Health Research (NIHR) Be Part of Research website allows you to search for a study that you may want to take part in. There are a number of ways you can do this:

  • Search for a health condition, to view all of the research taking place in that area.
  • Search for a location using a place name or a postcode to see all of the research taking place there.
  • Use both the conditions search and location search together to narrow your search down to your chosen condition in your area.

Patient resources and support

Logos of cancer and rare disease support services for patients
See the list of NHS and independent charities offering information, resources, support and advice on cancers and rare diseases to patients and their families.