What is genomics?

Put simply, genomics is the study of the human genome, the encyclopaedia of information that makes us who we are and defines our individuality. All living things have a genome made up of DNA.

Click here to see a video about genomic medicine

Click here for more information about genomics (genes, genetics and DNA)

A glossary of genomics is available here

Why is genomics important for patient care?

In the last 20 years or so, science and technology have advanced so quickly that scientists can now map the whole genome and pinpoint genetic variants that help diagnose and treat rare and inherited conditions, including cancer. Genomics (and different types of genetic testing) can also be used to identify patients and families who may be at higher risk of developing a disease – it can therefore be used to predict and prevent the progression of inherited conditions.

Some examples of how genomics is helping patients are listed below:


How is genomics supporting improvements in healthcare in the NHS?

In recent years, NHS England introduced the NHS Genomic Medicine Service to harness the power of genomic technology and science to improve the health of our population and deliver on the commitments in the NHS Long Term Plan.

In October 2022, a 5-year strategy Accelerating Genomic Medicine in the NHS was published by NHS England with 4 clear priorities:

  • To embed genomics into routine healthcare across the NHS.
  • To deliver equitable access to genomic testing – improving outcomes in cancer, rare, inherited and common diseases.
  • To join the data and digital revolution, connecting data systems to better inform care.
  • To support cutting-edge science, research and innovation to ensure that patients benefit from rapid implementation of new advances in care.

This strategy signalled the next big step in healthcare in the NHS and the journey to realise the potential of genomics for our patients, our communities and the population of England.

The North East and Yorkshire Genomic Medicine Service is one of 7 in England. Read more information about Delivering Our Strategy for the population in our region here.

In 2024 and beyond, we will continue to lead and support a range of developments in the following priority areas:

  • Cancer
  • Rare Disease
  • Pharmacogenomics
  • Research and Innovation
  • Genomic Networks of Excellence
  • The Generation Study (Newborn Genome Programme)
  • Workforce Development