How the Genomics Education Programme has supported the delivery of this flagship NHS project

Genomics England was first announced by government in 2013 as a publicly funded company set up to deliver the groundbreaking 100,000 Genomes Project, supported by 13 NHS Genomic Medicine Centres.

The project has led to the sequencing of more than 100,000 whole genomes from around 85,000 people, predominantly NHS patients with a rare disease and their families, and patients with cancer. Participants’ genomes are sequenced and linked to their health records and, with their consent, put forward for research.

As well as leading to potential diagnosis and treatment for patients, the project’s legacy provides the foundations for the England-wide Genomic Medicine Service, being rolled out in 2019.

The Genomics Education Programme has supported the delivery of the 100,000 Genomes Project since its inception, through tailored education and training initiatives mapped to key points in the project, as highlighted below.

#100kThankYous: Recognising the people who contributed to the 100,000 Genomes Project   © Genomics England

100,000 Genomes Project: educating the workforce

  • Identifying the patient


    Eligibility wheels: developed with University Hospitals Leicester, the Eligibility Wheels comprise 64 at-a-glance guides across 18 medical specialties to help clinicians identify eligible participants to join the 100,000 Genomes Project.


    Preparing for the Consent Conversation: a 90-minute online course designed to take the clinician step-by-step through the consent process, how to prepare for the discussion, and address patients’ concerns or questions.

    Train the trainer: a three-hour face-to-face training session for health professionals, designed to supplement the online course and equip the individual to train colleagues.

  • Sample processing

  • Sequencing, validation, interpretation

  • Reporting of findings


    Returning results from the 100,000 Genomes Project: A PDF guide with supporting information to support clinicians who feed back results for patients. The guide offers a step-by-step approach to approaching the possible result outcomes and includes advice from patients on how to best deliver results.