Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease

Build your knowledge of the genomic testing pathway for rare disease

Free upgrade for UK NHS staff

A free upgrade for this course is available for participants employed by the NHS or affiliated organisations. You can register for this upgrade here, or see the eligibility criteria here.

The widescale availability of genomic sequencing in the NHS brings new possibilities for patients but means new concepts, systems and processes for clinicians.

During this two-week course from NHS England, you’ll develop an understanding of the different types of genomic testing for rare disease, from single gene tests to whole genome sequencing, and walk through the application of this testing in clinical practice.

Understand the NHS Genomic Medicine Service

During the first week of this course, you’ll explore the evolving NHS genomic landscape: from the regional genomic medicine structure to the National Genomic Test Directory.

You’ll also explore what defines rare disease and how the introduction of whole genome sequencing is transforming the diagnosis and management of patients.

Explore the rare disease genomic testing pathway

In the second week, you’ll look in more detail at the rare disease pathway, including choosing the right test for the right patient at the right time, and the processes of ordering tests and acting on results.

Learn from the experts at NHS England

NHS England’s National Genomics Education programme specifically focuses on education and training in genomics. This course has been developed by a group of expert clinicians and scientists who are involved in genomic testing and the rollout of the national Genomic Medicine Service in England.

This course is designed for NHS healthcare workers. It may also be of interest to healthcare workers outside of the NHS, working in different countries and healthcare systems.

This course is designed for NHS healthcare workers. It may also be of interest to healthcare workers outside of the NHS, working in different countries and healthcare systems.

• Summarise the prevalence and variability of rare disease in the UK – and where genomics may be relevant.
• Evaluate the changing healthcare landscape in terms of the infrastructure surrounding, and democratisation of, genomic testing.
• Identify when genomic investigations may benefit your patients.
• Explain the scope of genomic tests on offer in the NHS Genomic Medicine Service, including when key tests may be used.
• Navigate the National Genomic Test Directory and NHS GMS Signed Off Panels Resource to apply the most relevant genomic test(s) to your clinical case.
• Identify and order the relevant genomic test(s) for your patient(s), using the correct forms and providing the correct samples.
• Confidently interpret and act on genomic test reports you may receive from the laboratory, considering action for the whole family as well as the individual patient.