Genomics and population health
Genomics is a central thread within the recent NHS 10 Year Health Plan for England and will play an important role in transforming healthcare over the next decade.
The plan signals a significant shift in how genomics will be used: moving beyond its established role in rare diseases and cancer to support routine, preventive care and improve population health. By combining genomic information with other health data, the NHS aims to identify people at increased risk of disease earlier, offer more personalised support and help people access the right treatment at the right time.
The plan also recognises the important ethical considerations associated with the wider use of genomics. Testing will remain a choice, based on informed consent, with safeguards to protect people’s genomic data and support equitable access.
A new genomics population health service
The NHS plans to establish a genomics population health service that is accessible to everyone. The NHS Genomic Medicine Service will expand the population health testing it already provides and continue to reduce testing times.
Genomic testing for inherited causes of major diseases will be expanded to support earlier detection and intervention. This includes testing associated with an increased risk of cancer, such as changes in the BRCA1 and BRCA2 genes, and inherited conditions which increase cardiovascular risk such as familial hypercholesterolaemia.
Polygenic risk scores
A polygenic risk score brings together information from many genetic variants to estimate a person’s likelihood of developing a particular condition. When combined with factors such as age, lifestyle and medical history, these integrated risk scores (IRS) could help identify people at increased risk before symptoms develop.
The NHS plans to introduce population-based polygenic risk scoring alongside other emerging diagnostic tools. This could support earlier, more personalised screening, prevention and treatment.
Via Our Future Health (OFH), genomic and health information will be collected from up to five million consenting participants. With OFH, the NHS will undertake a study to test IRS in neighbourhood health services to support cardiovascular disease prevention and care.
Subject to evaluation, this approach could later be extended to conditions including diabetes, and breast, bowel and prostate cancer.
Genomic testing for newborn babies and adults
The NHS will build on the Generation Study, led by Genomics England in partnership with the NHS. The study is sequencing the genomes of 100,000 newborn babies, with parental consent, to look for more than 200 rare genetic conditions that can usually be treated in the NHS during childhood.
The findings will help the NHS understand the benefits, risks and practical considerations of genomic testing at birth and will inform its longer-term ambition to make newborn genomic sequencing a universal offer.
The plan also includes a new large-scale study led by Genomics England to sequence the genomes of 150,000 adults. This will explore how genomics could be used in preventive care, predict the risk of conditions such as cancer and heart disease, and provide pharmacogenomic information to help guide prescribing.
Pharmacogenomics
Pharmacogenomics looks at how differences in a person’s DNA can affect their response to medicines. This information can help healthcare professionals select medicines and doses that are more likely to be effective and less likely to cause harmful side effects.
The NHS plans to integrate pharmacogenomic testing into routine clinical care and explore its inclusion in the NHS Health Check for people aged over 40. Uptake will be monitored across different communities, and using pharmacogenomic information to support cardiovascular and mental health prescribing will be a priority.
In the longer term, the NHS App’s My Medicines service is expected to use pharmacogenomic information to help people understand drug interactions and reduce adverse drug reactions, which are estimated to cost the NHS up to £2.2 billion each year.
Supporting personalised care in neighbourhoods
Genomics will form part of the new Neighbourhood Health Service, helping local teams move towards more preventive and personalised care.
The ambition is for genomic information, digital technology and data from wearable devices to be brought together through a single patient record. This could give people a clearer understanding of their health risks and help healthcare teams offer tailored screening, treatment and support closer to home.
The NHS Genomic Medicine Service will work with neighbourhood teams to help staff understand and use genomic information safely and effectively. Local genomics champions will also be trained to improve awareness and support equitable access to genomic testing within their communities.
Together, these developments have the potential to make genomics a routine part of healthcare—helping to predict and prevent disease, personalise treatment and improve outcomes for people and families.