A clinician talking to a patient

Genomics in the NHS: A clinician’s guide to genomic testing for rare disease

Join our new two-week online course for a practical guide to the genomic testing process for rare disease

Over the past year, there has been a rapid increase in the availability and applicability of genomic testing in healthcare. With this, many more clinicians need to become familiar with the concepts, systems and processes in the testing process, which can be daunting.

On Monday 21 November, the Genomics Education Programme (GEP), working in collaboration with St George’s University of London, will launch the first of two practical courses for clinicians involved in ordering genomic tests: ‘A clinicians guide to genomic testing for rare disease’.

Online learning

Hosted on the FutureLearn platform and set over two weeks, the course will provide a practical introduction to genomic testing for rare disease and support clinicians in ordering tests and feeding back results to patients. Learners will hear from a wide range of people, from genomics specialists to patients with lived experience of rare disease, to help contextualise the scope and importance of the service.

From bedside to bench (and back again)

The course follows a two-week structure, taking learners on a journey which moves from the reality of living with a rare disease, to the practicalities of identifying and testing for those conditions within the NHS, before returning to the patient voice and the wider implications results may have for families.

In week one, the course will cover the fundamental principles necessary to understanding genomic testing in the NHS today, including what defines rare disease, an overview of the National Genomic Test Directory and how the introduction of massively parallel sequencing is transforming the delivery and integration of genomic medicine.

The second week of the course will dig deeper into the practicalities of genomic testing in the UK, providing resources to help clinicians navigate the clinical pathway for rare disease, including identifying who could benefit from testing, how to use the National Genomic Test Directory, and how to return results to patients.

Engage with fellow learners

Learning is delivered through a variety of media, including video tutorials, interviews, animations, articles and discussion steps. Interactive elements, including quizzes and activities, allow learners to demonstrate their knowledge and further discussion is encouraged in the comments below each step. Those wishing to learn more about a given topic or area can do so by following signposting out to other resources.

A second course covering the cancer pathway is currently in production and will be released in early 2023.

For further details or to sign up, please visit the course page.