Improving genomic research and services

Genomic medicine is a tool with amazing potential to improve the lives of people living with genetic, rare and undiagnosed conditions. 

We want scientific breakthroughs in genomics to reach people living with genetic conditions faster through research programmes and routine NHS diagnostic and clinical services.

What is genomics?

Genes are the building blocks of a person’s body. They act as instructions for the body on how to grow and do different things. There are genes that control thousands of different things – from hair and eye colour to how different organs work.

In people with genetic conditions, one or more genes don’t instruct the body as we’d expect. The impact of these changes in the gene (known as ‘mutations’) lead to genetic conditions happening in the body.

All our genes together are known as our genome, and these are packaged in 23 pairs of chromosomes. You can find out more about genes and chromosomes.

We know that eight out of 10 rare conditions are caused by a change to someone’s genetic code – a fault in one gene or chromosome.  

In most contexts, ‘genomic’ and ‘genetic’ have the same meaning. The term ‘genomic medicine’ is used by the NHS as it signals a modern approach with a broader focus and more powerful tools. 

UK and NHS genomics strategies

In recent years, the UK government and NHS have launched strategies and commitments to build the UK’s genomic services: 

How can genomics help people living with genetic conditions?

Genomic research has delivered the tools to diagnose many rare conditions quickly and effectively. If people living with genetic conditions and their families are to benefit from this technology, genomic medicine services in the NHS need to deliver diagnostic and clinical services fairly and efficiently. 

Genetic Alliance UK is a voice for everyone affected by genetic conditions in the development of these services across the UK. We want the NHS to deliver the following activities equitably.

1. Providing access to genetic testing

People living with rare conditions and their families need good quality information about how to access genetic testing, what happens at a genetic testing appointment, and how long it takes to get results from genetic testing. 

Depending on what the test is for, there may also be a need for pre-test counselling or help to understand the limitations of genetic testing, including the chance that no significant finding may be found.

If you or a loved one is affected by a genetic condition, you can find out more about the range of genetic services and tests that might be available in your situation

2. Making sure people receive a timely diagnosis

Once testing is complete, people living with rare conditions and their families need to receive a timely diagnosis to help them make informed decisions.  Diagnosis can lead to improved medical management and open doors to accessing care, treatment and support services.

 A timely diagnosis is particularly important for babies and children who deserve the best start in life. Children living with genetic conditions should not miss out on once-in-a-lifetime opportunities to shape their early development through vital support from physiotherapists, speech and language therapists and other health and care professionals.

In some areas of the UK it can take up to 2 years for people to receive their results once a genetic test has taken place. Genetic Alliance UK is raising awareness of this delay by highlighting it when opportunities arise.

3. Providing support when a diagnosis is given

At the point of diagnosis, people living with rare conditions and their families should have access to good quality information to help them understand what the diagnosis means. They may need additional support to come to terms with the diagnosis and understand how it will impact on their day-to-day lives and their future.

When test results indicate a condition has been inherited from a parent, people need access to support and accurate information about how it may impact any future pregnancies and other family members. Depending on their response to this information, they may wish to be referred for reproductive choice options including pre-implantation genetic testing (PGT) or prenatal testing. 

Genetic Alliance UK provides a voice for people living with genetic conditions when the Human Fertilisation and Embryology Authority (HFEA) considers adding new conditions to the list of conditions that are approved for PGT. To date, over 600 conditions have been approved for PGT.

4. Signposting to support after diagnosis

After diagnosis, it is important for NHS genomic medicine services to clearly signpost people living with rare conditions and their families to the part of the NHS that will provide ongoing support for their condition. 

It is also important to signpost them to condition-specific charities and support groups that can provide information and peer-to-peer support for their journey.

You can find condition-specific support groups through our A-Z list of member charities and A-Z list of rare conditions.  You can also find information about a wide range of specific chromosome and gene disorders on the Unique website

5. Providing ongoing support if a diagnosis is not possible

It is important to acknowledge that not everyone will receive a diagnosis after undergoing genetic tests. Some people will receive a finding of a variant of uncertain significance (VUS), or be affected by a condition that is so rare that it does not yet have a name. 

A lack of a definitive diagnosis leaves people and their families with little or no information about how their condition is likely to progress and even whether or not the condition will be life-limiting. It is important for NHS genomic medicine services to set out how the NHS will continue to provide support for individuals without a diagnosis, and to be clear about the opportunities for re-analysis in the future as science makes further progress.

Genetic Alliance UK supports children and families affected by genetic disorders so rare that they do not yet have a name (known as syndromes without a name) through our SWAN UK project.

Our work in genomic research and service provision

Genetic Alliance UK ensures the views of people living with genetic conditions shape the development of the UK’s strategic approach to genomics by sitting on the National Genomics Board.

We support genomic research within the NHS as well as research led by Genomics England, such as the Generation Study. We shape the NHS’s approach to embedding genomics in the NHS by working with NHS England, NHS Scotland, NHS Wales and individual NHS genomic laboratory hubs and genomic medicines service alliances across England. Genetic Alliance UK or one of our members represent our community in the following groups. 

  • UK: UK Government National Genomics Board 
  • England: NHS England Genomics People and Communities Forum, NHS England National Genomics Board, Genetic Risk Expert Reference Group
  • Scotland: Genetics Laboratory Management Review Group, Genomics Leadership Group, Strategic Network’s Patient Involvement Advisory Group
  • Wales: Genomics Partnership Wales Programme Board

Our long-standing Syndromes Without a Name (SWAN) UK project supports families with children with undiagnosed genetic conditions. Many of these children have had all the testing that modern genomics can deliver and yet still don’t have a diagnosis. Their most likely source of a diagnosis in the future is from new discoveries made through genomic research. 

Genetic Alliance UK works with its members and representatives of the SWAN community to ensure that their voice is a crucial part of research projects that might further our knowledge of the genetics of the conditions that affect them. This might be through collaborative relationships with organisations like Genomics England or by participating in research project oversight groups. In recent years we have made sure that individuals and families without a diagnosis have been able to take part in projects that may lead to a diagnosis such as the 100,000 genomes study and Deciphering Developmental Disorders study.

Building an evidence base for genomics

We have led or co-authored a number of scientific papers on genomics which can be found in the section on our research priorities