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Genomic medicine refers to the study of an individual's genetic makeup to identify the cause of their condition or susceptibility. By interpreting the genetic information of individual patients, healthcare professionals are beginning to diagnose certain conditions more accurately and ‘personalise’ the treatment to match.

Our team collaborates with genomic laboratories, clinicians and researchers to deliver the benefits of genomic medicine to patients, families and healthcare professionals across North West London.

Genomic medicine at Imperial College Healthcare NHS Trust

Following our participation in the 100,000 Genomes Project, and our contribution towards this national project, we are working to deliver the national strategic plan on genomic transformation. To do this, we work closely with the North Thames Regional Genetics Service, develop multidisciplinary genomic meetings, joint genomic clinics and educational activities.

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.

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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, which can help read individual DNA sequences. 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


Specialist genomic clinics

Imperial College Healthcare NHS Trust offers a number of genetic clinics some of which are highly specialised:

  • Inherited cardiac conditions
  • Malignant renal genetics
  • Non-malignant renal
  • Adult neurogenetics clinic
  • Non-classical & genetic diabetes
  • Genetic ophthalmology
  • HHT and pulmonary AVM
  • Fetal medicine genetics
  • Lipid genetics clinic
  • Inherited red cell disorders
  • Endocrine cancer genetics /MEN
  • Adult cancer genetics
  • Paediatric general genetics
  • Paediatric endocrinology
  • Paediatric infectious disease (research clinic)
  • Paediatric neurology
  • Breast Cancer Family History clinic

Education opportunities

We support our colleagues with a number of educational sessions. We realize that each service has different needs and are able to provide tailored sessions.