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.

• Introducing rare disease, genomic testing and what it means for you
• Let's get started
• Understanding rare disease
• Genomics and rare disease
• When to think about genomic testing
• Genomic technology: A changing landscape
• The road to a national genomic medicine service
• Wrapping up Week 1
• Your role: Requesting testing and dealing with results
• Introducing the testing pathway
• Is it genomic?
• Requesting genomic testing
• In the laboratory
• Receiving and understanding results
• Beyond the patient: Genomic testing and the wider family
• Wrapping up the course