Healthcare professionals

Introducing genomics in healthcare

With new technologies we can now examine the whole of a person’s DNA — their genome — quicker and cheaper than ever before. In this video, Vivienne Parry OBE introduces the fundamentals of genomics and its growing importance for healthcare.

100,000 Genomes Project Overview

The 100,000 Genomes Project is aiming to create a new genomic medicine service for the NHS. The project will allow patients with rare or unidentified conditions to be offered the opportunity of a diagnosis. Also, in time, there is the potential of new and more effective therapies for rare diseases and cancer including personalised care treatment plans.

If you are currently receiving care at one of the hospitals involved, either for a rare disease or cancer, the most important thing is that you receive the correct medical care. While we hope that whole genome sequencing will make a difference to lots of people in the future, for many with these conditions other tests may be more appropriate. Your clinical team will discuss the project with you if they believe it is the best option.

IMG_1346 male and female staff - healthcare professionals page

Recruiting one of your patients

We need help from healthcare professionals in the North Thames Region to identify suitable patients.

If you are a specialist who wishes to recruit one of your patients to the Rare Diseases 100,000 Genomes Project you will need to:

  • Confirm if the patient is eligible using the eligibility criteria.
  • Refer your patient to your local NTGMC centre.
  • Agree to complete the clinical details of the patient; a phenotyping proforma is available specific to each disease.
  • Feedback results when they become available, to the families and refer families on for specialist care where appropriate in the light of results.

If you are a specialist who wishes to recruit one of your patients to the Cancer 100,000 Genomes Project in the North Thames region please get in touch with your local hospital 100K team. Please be aware that not all sites recruit into the cancer arm of the project.

The Genomics England website contains more information for staff including consent forms, training, nominating new diseases for inclusion in the project, documentation, policies and standard operating procedures (SOPs).  You can read more about the importance of 100,000 Genomes Project in this article from the BMJ.