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

Explore the practicalities of genomic testing in the NHS, when to consider genomics, and the patient pathway for rare disease.

2,621 enrolled on this course

A female clinician in a yellow dress wearing a stethoscope speaks to a blonde female patient whose faced is obscured. A double helix is overlaid over the scene.
  • Duration

    2 weeks
  • Weekly study

    3 hours

Build your knowledge of the genomic testing pathway for rare disease

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 new Genomic Medicine Service

During the first week of this course, you’ll explore the evolving NHS genomic landscape: from the new 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.

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.

What topics will you cover?

  • the changing genomic landscape and the implications for genomic testing in healthcare
  • what is rare disease?
  • the genomic medicine structure within the NHS: GMSAs and GLHs
  • the rare disease pathway and how to navigate the test directory, consent and forms

When would you like to start?

Start straight away and join a global classroom of learners. If the course hasn’t started yet you’ll see the future date listed below.

  • Available now

Learning on this course

On every step of the course you can meet other learners, share your ideas and join in with active discussions in the comments.

What will you achieve?

By the end of the course, you‘ll be able to...

  • 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.

Who is the course for?

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.

Who will you learn with?

I am clinical director/head of HEE's Genomic Education Programme and a consultant in clinical genetics/professor in clinical genetics and genomic education at St George's Hospital/University

I work as an Education Development Lead within the National Genomics Education team, NHS England. By background I am a doctor, specialised in clinical genetics.

Who developed the course?

NHS England

The Workforce, Training and Education (WT&E) directorate of NHS England (NHSE) ensures the NHS in England has a sufficient and inclusive workforce with the knowledge, skills, values and behaviours to deliver compassionate high-quality health and care to the people it serves.

St George's, University of London

St George’s is the UK’s only university dedicated to medical and health sciences education, training and research.

Learning on FutureLearn

Your learning, your rules

  • Courses are split into weeks, activities, and steps to help you keep track of your learning
  • Learn through a mix of bite-sized videos, long- and short-form articles, audio, and practical activities
  • Stay motivated by using the Progress page to keep track of your step completion and assessment scores

Join a global classroom

  • Experience the power of social learning, and get inspired by an international network of learners
  • Share ideas with your peers and course educators on every step of the course
  • Join the conversation by reading, @ing, liking, bookmarking, and replying to comments from others

Map your progress

  • As you work through the course, use notifications and the Progress page to guide your learning
  • Whenever you’re ready, mark each step as complete, you’re in control
  • Complete 90% of course steps and all of the assessments to earn your certificate

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