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Genomics at Alder Hey

Find out more about why genomics are important in healthcare and here at Alder Hey.

Genomics is not appropriate for everyone, but if you are interested in how genomics could be used in your care or the care of you child/children, please ask your clinical team about genomics at Alder Hey. 

If you decide not to have a genetic test, you will still receive care and support from healthcare professionals

What is genomics?

All living things, from bacteria, to plants, animals and humans, have a genome; ours is made up of DNA. Every person’s genome is around 99.9% the same as everyone else’s, but that 0.1% difference equals around 3 million variations in the DNA.

cartoon illustration of a women and man highlighting the 0.1% difference in human DNA.

Humans share around 96% of their DNA with chimpanzees, 90% with mice and 60% with bananas.

image illustrating how much DNA humans share with chimpanzees, mice and bananas.

DNA is made of nucleic acids. There are 2 single strands of DNA that are twisted into a double helix shape.

An image illustrating a strong of DNA.

The double helix is folded in to chromosomes. 

Humans have 23 pairs of chromosomes, the chromosome that makes us male or female is the only chromosome that is not an identical pair. 

Some sections of the DNA are called genes which are the ‘coding’ regions, some sections of the DNA are ‘non coding’. Humans have around 20,000 ‘coding’ genes, which create mRNA that creates proteins that are essential for building and repairing all the cells in our bodies. 

An image illustrating the differing strands of DNA, mRNA and Protein.

Each chromosome has a copy of each gene; so each person has two copies of each gene, one copy is inherited from the mother and the other from the father.

Some genes determine physical characteristics, such as eye colour, others can influence the chance of developing a health condition, such as cystic fibrosis.

Genetics is the study of genes and their roles in inheritance; the way that certain traits or conditions are passed down in the genes from one generation to the next, like how you can pass blue eyes onto your children.

Genomics is the study of a whole genome; the coding and non coding areas. It looks at how genes are activated to produce proteins, how genes interact with each other and how this information is applied to make organisms growth, develop and function in the right way.

What difference does Genomics make to patient care?

Variation in a persons DNA  can be beneficial, harmful, or neutral. Genomic testing allows us to identify any variation.

Genomic tests may be carried out at different times in a person’s life for the following reasons;

  • your doctor thinks you might have a health condition caused by a change to 1 or more of your genes
  • someone in your family has a health condition that’s caused by changes to genes
  • some of your close relatives have had a particular type of cancer that could be inherited
  • you or your partner have a health condition that could be passed on to your children

A genomic test can;

  • help to diagnose a rare health condition in a child, by comparing DNA in people with and without a condition to find variation that is causing the condition
  • help you understand which infectious disease is causing someone to be poorly
  • help you understand whether an inherited health condition may affect you, your child or another family member, and help you decide whether to have children. 
    For example when both parents carry a variant, 1 in 4 children will be affected by the condition
  • show if you are at higher risk of getting certain health conditions in the future, including some types of cancer
  • guide doctors in deciding what specific medicine or treatment to give you. For example a lot of cancers now have targeted therapy that is chosen based on the results of a genomic test
  • And where we previously gave all people with a condition the same drugs which didn’t always work and made some people more poorly. We now know that people respond differently and we can personalise the drug amount to different people using the results of a genomic test
  • guide doctors on whether you’re able to join a clinical trial

Image descriptions (left to right)
Image 1 – Comparing the DNA of 2 groups of people, one with and one without a health condition to identify the DNA causing the health condition
Image 2 – Previously all people received the same dose of a medicine, now people can receive a normal/lower/higher dose of medicine, or an alternative medicine depending on their DNA 
Image 3 – A number of cancers can now be treated with targeted therapy

Patient information

Genomic Research – and why it is important
Patient Information for Rare Disease
Patient Information for Rare Disease (Easy Read)
Patient Information for Cancer
Patient Information for Cancer (Easy Read)
Translations of WGS Patient Information Leaflets for Cancer
Translations of WGS Patient Information Leaflets for Rare Disease

My Genome Sequence part 2 (YouTube)

Further information

At Alder Hey we are already using genomics to support with diagnosing rare and inherited conditions, diagnosing cancer and infectious diseases. We use genomics to guide clinical management and treatment, indicate prognosis and determine the chances of someone developing a condition in the future. We are also using genomics to help manage children who are acutely unwell in the PICU. 

Alder Hey Children’s Hospital has a strong role to play in developing and delivering genomic healthcare to the children and young people of Cheshire and Merseyside and beyond. We have been an early adopter of genomic medicine with clinical teams increasingly using genomic testing to drive the management and treatment of children and young people. Alder Hey was major North West Coast contributor to the 100,000 Genomes Project, recruiting 460 families; more than a third of the total number. These families had whole genome sequencing with the aim of diagnosing their rare disease. In 25 to 30% of the patients who opted for the study, a diagnosis was reached as a result of the test.

Using the unique expertise of the clinical staff in Alder Hey Children’s Hospital and Liverpool Women’s Hospital Clinical Genomics Service, we want to create a Cheshire & Merseyside Neonatal and Paediatric Genomics Medicine Unit. This will mean the hospitals can use genomic medicine to allow all children to reach their full and unique potential.

We will do this by;

  • Making sure the right children and families have access to genomics, at the right time in their clinical journey, and are provided the right information so they can make an informed and personal choice about using genomics.
  • Using genomics to get to the correct diagnosis sooner, and enhance our excellent care, treatment and/or management of children.
  • Having genomics as one integrated part of many tools and services that the hospitals can offer, so every child receives the care that is individually best for them.
  • Providing genomic medicine that improves the experience of families and children in our care.
  • Improving fair access to genomics to everyone it will benefit, helping to reduce healthcare inequalities. Explaining clearly to families and children who will not benefit from genomics, why, and offering them alternative, but still excellent support, care and treatments.
  • The NHS is under pressure at the moment, but the huge benefits of genomic medicine mean locally we are supported by a national genomics strategy from NHS England, and the national genomic testing capacity is constantly being reviewed to make sure results are returned to children as fast as possible.  

The NHS England 100,000 genomes project has shown that the more genomics we do in the NHS, the more genetic causes of conditions we will be able to identify, the more treatments and novel management methods will be developed. The more genomics we do now, linked to large research and innovation programmes, the greater the opportunities will be for the children of the future to reach their potential as well.   

With this programme, Alder Hey and Liverpool Women’s Hospital’s aim to become world-leaders in Neonatal and Paediatric Genomic Medicine.

If you’re offered a genetic test, you may be referred to a genetic counsellor to help you think through what the test means for you and your family. A genetic counsellor can help you understand:

  • the risks and benefits of you having a genetic test
  • the potential results of your test and what they mean
  • how your family members may be affected if the test shows a serious health condition runs in your family
  • the risk of you and your partner passing on a health condition to your children
  • your options if you have a child with an inherited health condition and you do not want your next child to inherit it
  • A genetic counsellor can also direct you to relevant patient support groups.

Visit the Liverpool Centre for Genomic Medicine (LCGM) website

A genomic test is usually done using a sample of blood or saliva. If the referral for a genetic test is because of a cancer, the test will be done on a sample of the tumour that has already been removed as part of standard treatment. The sample of blood, saliva or body tissue is sent to a genetic testing laboratory to be analysed.

Genomic data includes the sample (blood, tissue or saliva), clinical information about a persons health condition and the results of the test.

This data may be used in:

  • Individual care
  • Planning to improve the health services you and others receive
  • Research (where patients have consented)
  • The data from any genetic test is stored locally. Data from whole genome sequencing is stored in a secure national database. Where necessary, information that can identify a person, such as your name and address, is removed. A persons data can only be accessed by approved staff.

If a genomic test is completed (including whole genome sequencing) on the NHS, it’s not possible to stop data being stored and shared. If a person has already opted out of data from their health records being shared, this does not apply to genomic data.

Why is genomics important to healthcare?

Genomics is revolutionising the way we think about healthcare. It is providing a far more detailed understanding of what causes illness and infectious disease and is helping us develop new treatments that would have been unthinkable even a decade ago. 

Over the next ten years the UK Government has the ambition to create the most advanced genomic healthcare system in the world, underpinned by the latest scientific advances, to deliver better health outcomes at lower cost. This vision is set out in the 2020 Government Strategy: Genome UK – the Future of Healthcare. The vision is to support earlier detection and faster diagnoses, use genomics to target interventions to specific groups of patients (personalised medicine), support patients in understanding what genomics means for their health, and bring the full strength of NHS capabilities in this field together against new global pandemics and threats to public health. It will also support fundamental and translational research and ensuring a seamless interface between research and healthcare delivery, making the UK the leading global hub for life sciences. In the 2022 Strategy; Accelerating Genomic Medicine in the NHS the UK government aims to have genomics embedded within the NHS over the next 5 years.

Patients benefit enormously from research and innovation, with breakthroughs enabling prevention of ill-health, earlier diagnosis, more effective treatments, better outcomes and faster recovery. The aims for linking and correlating genomics, clinical data and data from patients to provide routes to new treatments, diagnostic patterns and information to help patients make informed decisions about their care. Genomic testing will support ‘research-active’ hospitals as they have lower mortality rates, with benefits not limited to those patients who participate in research.

Genomics is linked to a number of national strategic documents such as;

What is the NHS Genomic Medicine Service?

To enable the NHS to harness the power of genomic medicine and science to improve the health of our population as part of our commitments in the NHS Long Term Plan; NHS England has commissioned a genomic medicine service to provide equitable access to genomic testing across the country. 

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