Learn more about how genomic medicine can help us personalise medical treatment.

Genomic medicine

Genomic medicine, sometimes also known as personalised medicine, is a way to customise medical care to your body's unique genetic makeup. By interpreting the genetic information of individual patients, healthcare professionals are beginning to diagnose certain conditions more accurately and ‘personalise’ the treatment to match.

West London Genomic Medicine Centre

We host the West London Genomic Medicine Centre with our partners Chelsea and Westminster Hospital NHS Foundation Trust, Royal Brompton & Harefield NHS Foundation Trust, and the Royal Marsden NHS Foundation Trust.

As one of the 13 Genomic Medicine Centres across England, we were designated by NHS England to contribute to the 100,000 Genomes Project with the goal of harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer. The task was to make the UK a world leader within five years.

The 100,000 Genomes Project commenced in 2015 and ended recruitment in 2018. We recruited over 1,000 rare disease and 400 cancer participants and most of the results are expected to be returned to participants in 2019 and 2020.

If you are a participant in the 100,000 Genomes Project and wish to inquire about the status of your results, then please contact your clinical team or the Genomics England Helpdesk.

Find out more about the 100,000 Genomes Project

NHS England national Genomic Medicine Service

Following the success of the 100,000 Genomes Project NHS England has introduced a new national Genomic Medicine Service. The aim of this service is to:

  • Provide equity of access across England to the full range of clinically appropriate genomic tests
  • Standardise testing for all patients
  • Keep the NHS up to date with an annual review of the available genetic and genomic tests and the technologies that are available, increasing the number of eligible diagnoses for whole genome sequencing.

For the first time, whole genome sequencing will be available as a diagnostic test for a number of specific conditions, including 21 rare diseases, all paediatric tumours and a small number of adult cancers, including sarcoma and acute leukaemias.

Whole Genome Sequencing has the potential to transform patients' lives through:

  • Faster diagnosis for rare disease patients
  • Increasing the number of people surviving cancer each year through more accurate diagnosis and more effective use of therapies
  • Matching patients to the most effective medications and interventions, reducing the likelihood of adverse reactions

What is a genome?

You have a complete set of genes in almost every cell in your body. A genome is one whole set of all your genes plus the DNA between your genes. We know the position of most of the genes in the body and this has been mapped into what’s known as a ‘reference sequence’. By comparing an individual’s genetic sequence to the reference sequence, we can see where there are differences or ‘mutations’. Some of these mutations are harmless, while others can change the way a cell functions and cause disease.

How do you sequence a human genome?

To sequence a human’s genome, all we need is a blood sample. Your DNA is then extracted from the blood sample and loaded onto a sequencing machine. The machine determines the sequence of short pieces of DNA, 150 letters long known as ‘reads’. The ‘reads’ from the sequence are matched to the reference sequence. This is called ‘mapping’. From this ‘mapping’ exercise we can see where an individual’s genetic sequence differs from the reference sequence.

At least 80 per cent of rare diseases are caused by changes in the DNA sequence. By understanding the whole genome sequences in thousands of patients, we can begin to identify the cause of some rare diseases and help pinpoint new life-saving treatments.

Find out more from Genomics England