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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.

372 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.

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

372 enrolled on this course

  • 2 weeks

  • 3 hours per week

  • Digital certificate when eligible

  • Advanced level

Find out more about how to join this course

  • Duration

    2 weeks
  • Weekly study

    3 hours
  • 100% online

    How it works
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    $189.99 for one yearLearn more

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 Health Education 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 Health Education England (HEE)

The Genomics Education Programme is a programme within HEE that 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.


  • Week 1

    Introducing rare disease, genomic testing and what it means for you

    • Let's get started

      Get acquainted with the practicalities of the course, meet the team and download the course glossary.

    • Understanding rare disease

      What is a rare disease and what impact can they have on patients and their families? We spoke to a range of people whose lives have been changed to find out.

    • Genomics and rare disease

      80% of rare conditions are thought to have a genetic origin. We guide you though all kinds of genomic variation and the different effects they can have on health.

    • When to think about genomic testing

      Now you know all about genomic and rare disease, but 'thinking genomics' isn't always easy. Explore when to consider genomic testing using our clinical scenarios.

    • Genomic technology: A changing landscape

      Genomics hasn't always moved this fast. We take you back to the very beginning and learn about how genomic technologies have developed, and the challenges we still face today.

    • The road to a national genomic medicine service

      With genomics advancing at such a rapid pace, the need to accommodate it has grown. In this activity, we zoom in on the NHS Genomic Medicine Service to see how it is helping to support equitable genomic testing.

    • Wrapping up Week 1

      We bring Week 1 of the course to a close and ask you to reflect on what you have learned over the last seven days.

  • Week 2

    Your role: Requesting testing and dealing with results

    • Introducing the testing pathway

      We introduce you to Week 2 of the course, and provide an overview of the genomic testing pathway for rare disease in the UK.

    • Is it genomic?

      We consider the 'flags' for a genomic diagnosis and how they can help identify patients for genomic testing.

    • Requesting genomic testing

      During this activity, we will follow the 'bedside to bench to bedside' rare disease pathway to the laboratory, considering each of the steps along the way.

    • In the laboratory

      What is the role of a genomic laboratory, and what technologies might be used? We open up the floor to you to find out what you know about the lab.

    • Receiving and understanding results

      Sample testing has now been undertaken by the laboratory, clinical scientists have interpreted the result, and a report has been issued to the clinician. This activity will consider that report and what steps might come next.

    • Beyond the patient: Genomic testing and the wider family

      We look beyond the patient to consider the wider family and the implications for them, including transgenerational and reproductive concerns.

    • Wrapping up the course

      We close out the course by thinking to the future of genomics, and giving you the chance to reflect on everything you've learned.

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 am a doctor, specialised in clinical genetics. I work at the Genomics Education Programme at Health Education England, supporting the development of genomics education resources.

I'm an all-round editor/producer with expertise in storytelling and a particular interest in audiovisual content. I spearheaded and co-led the development of HEE's first FutureLearn course in 2016.

I am a project editor in the Genomics Education Programme, specialising in multimedia, layout and graphic design for educational courses.

Who developed the course?

Health Education England

Health Education England (HEE) support the delivery of excellent healthcare and health improvements to the patients and public of England.

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.

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Ways to learn

Choose the best way to learn for you!

Subscribe & save

$189.99 for one year

Automatically renews

Develop skills to further your career

  • Access to this course
  • Access to 1,000+ courses
  • Learn at your own pace
  • Discuss your learning in comments
  • Digital certificate when you're eligible

Cancel for free anytime

Buy this course

$84/one-off payment

Fulfill your current learning need

  • Access to this course
  • Learn at your own pace
  • Discuss your learning in comments
  • Printed and digital certificate when you’re eligible

Limited access


Sample the course materials

  • Access expires 21 Feb 2023

Find out more about certificates, Unlimited or buying a course (Upgrades)

Sale price available until 28 February 2023 at 23:59 (UTC). T&Cs apply.

Find out more about certificates, Unlimited or buying a course (Upgrades)

Sale price available until 28 February 2023 at 23:59 (UTC). T&Cs apply.

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