About us

The GEP collaborates with Genomics England in developing resources to support the delivery of the 100,000 Genomes Project. Funded Master’s students and GEP fellows can join a GeCIP and access 100,000 Genomes Project data for their research project.

Beyond the 100,000 Genomes Project, the GEP continues to work closely with Genomics England as part of its work overseeing the National Genomics Research Library.

The GEP has supported the NHS Sickle Cell and Thalassemia Programme (SCTP) in a project to produce a wide range of new and updated resources for stakeholders, in collaboration with the Sickle Cell Society and the UK Thalassaemia Society.

In January 2021, a live webinar was held to introduce the new publications, and some updates to existing ones, via Microsoft Teams. These included the new Sickle Cell and Thalassaemia Counselling Knowledge and Skills Manual, and newly produced haemoglobinopathy carrier leaflets from the screening programme. The Sickle Cell Society showcased a radically revised Parent’s Handbook and Paediatric Standards document.

Post-webinar resources are available here:

• Presentation slides from the webinar.
• Event Q&As.
• A complete video recording of the webinar.

Objectives and aims

In line with the objectives of the SCTP, the webinar aimed to contribute to the continued improvement of screening services, and of the experience of patients and their families by:

• informing SCTP’s stakeholders about the latest resources for use in their practice;
• updating stakeholders on recent developments within the programme, within screening and within PHE;
• reflecting on the patient experience of screening;
• offering a platform for any questions and comment from stakeholders and promoting discussion about screening, using regular Q&A sessions, together with Menti polling throughout the event;
• engaging with stakeholders along the screening pathway; and
• promoting and celebrating the work of the programme and its partners.

Professor Dame Elizabeth Nneka Anionwu DBE CBE FRCN FQNI PhD chaired the event. The speakers included patient representatives sharing their experiences of life with sickle cell and with thalassaemia, leading voluntary society representatives, clinical and laboratory advisers to the screening programme, and screening programme team members.

The webinar was aimed at anyone involved in screening for sickle cell disease or thalassaemia, or in supporting families during screening and beyond. More than 400 health professionals, educators and voluntary sector workers registered to attend.

A joint venture with NHS England, the Academy of Medical Royal Colleges Genomic Clinical Leads Group brings together expertise across the medical, surgical and associated specialties to inform education and training priorities.

The GEP is a key member of this group and provides expertise and direction to ensure the education and training needs of the NHS Genomic Medicine Service are reflected.

The GEP works with the Royal College of General Practitioners to progress the genomics agenda for primary care.

This includes reviewing and providing expert input into the GP training curriculum, the development of educational and training resources for GPs and advising on the content of relevant policy documents.

Led by Macmillan Cancer Support, this group brings together representatives from a range of cancer charities to ensure consistency in the information provided to patients and their families about genomics in cancer care.

The GEP provides education and information for the cancer charities to disseminate to their members. In addition, the GEP will oversee the development of cancer nurse genomic champions, a network that provides a point of contact for patients and their families.

The GEP has provided support to the Genomics in Mainstream Medicine Working Group, which was set up to raise awareness about genomic medicine across a range of specialties. The group was established by the Joint Committee for Genomics in Medicine of the Royal College of Physicians, the Royal College of Pathologists and the British Society for Genetic Medicine.

Part of the group’s work includes the production of factsheets outlining the context and impact of genomics on key clinical specialisms.

• Audiovestibular and genomics
• Cardiovascular and genomics
• Dermatology and genomics
• Endocrinology and genomics
• Gastroenterology and genomics
• General practice and genomics
• Medical oncology and genomics
• Nephrology and genomics
• Neurology and genomics
• Ophthalmology and genomics
• Paediatrics and genomics
• Pathology and genomics
• Public health and genomics
• Respiratory and genomics
• Rheumatology and genomics

For more information about the group’s activities, visit PHG Foundation.

The Australian Genomics Health Alliance comprises a national research collaboration of clinicians, researchers and diagnostic geneticists working together to provide evidence for the equitable, effective and sustainable delivery of genomic medicine in healthcare.

The GEP is a key collaborator in this work, providing expert input and piloting resources to ensure they are fit-for-purpose for NHS professionals.

The GEP works with seven Russell Group HEIs (higher education institutions) across England, which are commissioned to deliver the Master’s in Genomic Medicine framework to a national curriculum.

The GEP provides support for the HEIs in driving forward innovative and creative ways in which to deliver genomic education to NHS staff. The HEIs work together as a network and share good practice and resources. There is also scope for innovation among HEIs to develop additional modules to enhance the Master’s coverage of genomics.