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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.

2,726 enrolled on this course

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

2,726 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

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.

What topics will you cover?

  • the changing genomic landscape and the implications for genomic testing in healthcare;
  • what a rare disease is, and the challenges faced by affected families;
  • the genomic medicine structure within the NHS, including GMSAs and GLHs; and
  • the rare disease pathway and how to navigate the National Genomic Test Directory, the consent process and filling out 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.

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Ways to learn

Choose the best way to learn for you!

Buy this course

$109/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

Subscribe & save

$349.99 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

Limited access


Sample the course materials

  • Access expires 28 Jul 2024

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

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