Genomics in the NHS

This #GenomicsConversation week, we look at the genomics landscape in the UK today and the 10-year plan for the future

The message is clear: genomics is set to become part of routine care and revolutionise the way healthcare is delivered. But how far away are we from this becoming a reality, and where are we now?

As part of this year’s #GenomicsConversation week of action, we explore three key areas identified by the UK government’s 2020 Genome UK paper that are set to benefit from the application of genomics over the next 10 years.

Diagnosis and personalised medicine

We will incorporate the latest genomics advances into routine healthcare to improve the diagnosis, stratification and treatment of illness.” – Genome UK.

Early diagnosis

A large number of rare diseases have a genetic cause, and this is one clinical area where the use of genomics has been commonplace for some time. With advances in sequencing technology, DNA can be looked at more closely, precisely and efficiently to try and understand the cause of an individual’s condition and diagnose it more quickly. For example, rapid whole exome sequencing can provide answers for seriously ill children in neonatal or paediatric intensive care units in days, when previously it could take years. An early diagnosis also means that management strategies can be put in place that may prevent complications later in life.

Furthermore, as part of the NHS Genomic Medicine Service (GMS), whole genome sequencing (WGS) will be offered as part of routine care, with the aim of reducing the time to diagnosis for many patients – particularly those with rare diseases. In the first instance, WGS will only be applied in specific clinical situations, with other technologies like whole exome sequencing being used more widely.

Read more about the history of genome sequencing in our article: ‘Are we there yet? Genome sequencing turns 20

Personalised treatment in cancer

Using the DNA profile of a cancer to tailor an individual’s treatment is nothing new. Recently, though, a new genomic test has been approved that uses a person’s own genomic information (rather than that of the cancer) to help decide chemotherapy options.

Fluoropyrimidine drugs are used to treat a variety of different cancers and often form the foundation of therapeutic regimes, but the efficiency of these drugs is dependent on an enzyme produced by the DPYD gene. Some individuals have variants in this gene that mean they cannot metabolise the drug, putting them at risk of rapid-onset and potentially life-threatening toxicity.

The new test can determine whether an individual has a variant in the DPYD gene and therefore whether they are eligible for treatment with fluoropyrimidine drugs. If a variant is discovered, then alternative treatment options can be provided to avoid complications.

Watch our video to learn about how genomics is being used to care for patients and families affected by cancer

Prevention and management

Enabling predictive and preventative care to improve public health and wellness” – Genome UK.

One powerful application of genomics is to help predict disease risk in individuals and even whole populations. Genome-wide association studies (GWAS) look at genetic information across a population to try and identify markers that might be associated with a particular disease. However, these studies are complex as multiple environmental and social factors can be at play making conclusions difficult.

While this area is still in its infancy, as more genomes are sequenced and datasets become larger and more representative, we can increasingly work toward predicting and preventing diseases based on better understanding potential indicators.

Disease prediction can be a powerful tool, as seen in familial hypercholesterolemia (FH) – a relatively common inherited condition that affects 1-in-250 people. It causes high levels of cholesterol and can lead to heart disease if left untreated, but, if diagnosed early enough, it can be managed effectively with medication and lifestyle changes.

Diagnosis of FH is confirmed by genomic tests – either by a panel (multiple genes screened at the same time) or a test that identifies variants in genes known to cause the condition. Although some specialist FH services do exist in some areas, the inclusion of FH in the National Genomic Test Directory means that these tests will soon be available routinely across the whole country, enabling faster implementation of effective management strategies.

For more information about equity in genomic datasets, and the benefits of working towards a more representative data culture, read our article with bioinformatician Nana E. Mensah.


Supporting fundamental and translational research and ensuring a seamless interface between research and healthcare delivery.” – Genome UK.

All new healthcare innovations began as a result of research, and genomic medicine is no different. In order to keep moving forward, effective research is crucial. To reflect this, the GMS will have a research arm where patients having tests will be given the opportunity to participate in research, either for their own benefit or that of future patients. This data will help achieve the UK government’s ambition of sequencing 500,000 genomes by 2024.

To support the research effort, many papers are being published that describe how new technologies can be used to better diagnose, treat and manage disease: entering ‘genomics NHS’ into PubMed’s search engine returns hundreds of results from this year alone. Some of these will be research projects, others from clinical trials.

During the last 12 months, genomic research has been a vital tool to combat the pandemic, helping us to learn more about the virus itself and the illness that it causes. One study, GenOMICC, is sequencing the genomes of individuals severely affected by Covid-19 and comparing them with those that were only mildly affected or not affected at all. By doing so, the researchers aim to better understand genetic changes that might indicate disparities in disease severity.

Read more about genomics and its role in the pandemic in our dedicated Covid-19 blog article series

Through research, clinical trials and initiatives like the GMS, more applications than ever for genomics in healthcare are being discovered and implemented – an impact that can be felt across all clinical areas. Realistically, we are not yet at the stage where we know enough about the genome to apply it with confidence to routine practice in all areas of healthcare, but the speed in which advances are being made suggests that the 10-year plan for the future of healthcare will be realised.

Want to learn more about the UK government’s genomics plan? Check out the highlights in our article ‘Genome UK: the first steps in a grand plan’.

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice.