Rare Disease Day 2024

Educating the NHS workforce about the role of genomics in rare disease is a priority for the NHS England Genomics Education Programme

Today is the rarest day of the year – and, more importantly, it’s Rare Disease Day.

Rare Disease Day is a global awareness-raising campaign that shines a spotlight on those who are living with rare conditions.

As part of its vision to improve the lives of people living with rare disease in the UK, and following the launch of the UK Rare Disease Framework in 2021, the UK government has today published its 2024 UK Action Plan for Rare Disease. The plan outlines the significant progress that has been made on previous actions and launches seven new actions for the coming year.

As part of the UK Rare Disease Framework, the NHS England Genomics Education Programme committed to educating the NHS workforce about the role of genomics in rare disease. With the publication of this year’s action plan, the programme pledges to continue its work with the government and its partners. Among its actions for 2024 is a commitment to launch new resources that will educate healthcare professionals about rare conditions.

An encyclopaedia of further learning resources

This Rare Disease Day, we have added five new articles all about rare disease to GeNotes Knowledge Hub, the further learning encyclopaedia within our flagship educational resource. These articles provide healthcare professionals with an introduction to rare disease and familiarise them with some key concepts to be aware of when working with people living with rare conditions – such as the role of patient advocacy groups and the infamous rare disease ‘diagnostic odyssey’.

GeNotes provides educational information at the point of need, alongside links to bite-sized learning for clinicians keen to extend their knowledge. These new additions for rare disease add to our ever-growing GeNotes collection, which already consists of articles across the fields of oncology, endocrinology, neurology, fetal and women’s health, pharmacogenomics, primary care and paediatrics.

The rare disease education hub

Developed in partnership with Medics4rareDisease, the rare disease education hub has been set up to enable healthcare professionals to learn more about why rare disease is a priority in the UK, and to understand the role that genomics can play in improving rare disease patient outcomes. It features an introduction to the various types of rare disease, an outline of the impact that genomics can have on diagnosis and management, and some powerful patient videos. It also signposts to a range of related educational opportunities for healthcare professionals who would like to learn more.

Over the coming year, the NHS England Genomics Education Programme will continue to work in partnership with Medics4RareDisease to ensure that the hub meets workforce education requirements.

Genomic testing for rare disease

Are you a clinician keen to understand the practical aspects of requesting genomic testing via the National Genomic Test Directory? In honour of Rare Disease Day, on Monday 4 March the NHS England Genomics Education Programme is running a two-week online course that offers a practical guide to the genomic testing process for rare disease. Learners will be joined by a team of expert mentors who will be on hand to answer questions, respond to comments and provide support.

Learning is delivered through a variety of interactive media, including video tutorials, interviews, animations, articles and discussion steps. For further details and to sign up, please visit the course page. NHS staff who wish to sign up will have free access to the course, including a free lifetime upgrade, by clicking here.

The patient perspective

When learning about rare disease and its impact on families, it’s vital that real patient experiences and stories are at the forefront. This year, the NHS England Genomics Education Programme has developed a series of short films ‘My genomics journey: Three perspectives’, that shines a light on patients with different conditions and the ways in which their lives have been affected, both before and after diagnosis.

You can watch the film series here on Vimeo, or through the website.

Show your stripes

If you would like to get involved this Rare Disease Day or wish to find out more about rare disease in the UK, join us on social media (@genomicsedu) and use the hashtags #RareDiseaseDay, #RDD2024, #ShowYourStripes, #Genomics.