Rare Disease Day 2023
The Genomics Education Programme is playing a key role in the education of NHS staff in rare disease, a priority area in the UK Rare Diseases Framework
Today is Rare Disease Day, a global campaign that shines a spotlight on rare disease and on the patients, families and carers worldwide whose lives are affected by rare conditions.
In a move to increase awareness of rare diseases and improve care for those living with them, in 2021 the UK government published the UK Rare Diseases Framework. The framework identified four high-level priorities for a national rare disease strategy, more details of which were provided in the 2022 UK Action Plan for Rare Disease. Today sees the launch of the 2023 action plan, and a renewed commitment to increase awareness of rare disease and help provide patients with a diagnosis faster.
The Genomics Education Programme (GEP) was assigned numerous specific goals within the 2022 action plan, which we are fulfilling by creating new educational resources for healthcare professionals and continuing to raise awareness of rare conditions.
A practical introduction to genomic testing
This Rare Disease Day, the GEP will officially launch its online course Genomics in the NHS: A clinician’s guide to genomic testing for rare disease, which was developed in collaboration with St George’s University of London.
Hosted on the FutureLearn platform, the course takes learners on a journey that begins with the reality of living with a rare disease, then moves on to the practicalities of identifying and testing for rare conditions within the NHS, before returning to patient stories and examining the wider implications that results may have for families.
Learning is delivered through a variety of media, including video tutorials, interviews, animations, articles and discussion steps. Between 15 and 22 May and 6 and 13 November, the course will be mentored by experts, who will offer educational live webinars for added support and information . To sign up or find out more, please visit the course page.
A just-in-time educational resource
Launched in 2022, GeNotes will play a crucial role in increasing awareness of genetic and rare disease among healthcare professionals. Developed in collaboration with clinical experts across the NHS, GeNotes is designed to support clinicians with the when, why and how of requesting genomic testing – and with what to do when the results come back. It provides educational information at the point of need (the patient consultation), alongside links to bite-sized learning for clinicians keen to extend their knowledge.
GeNotes is currently in a public beta phase, with oncology the first speciality to feature; however it will soon be joined by paediatrics, cardiology, general practice, fetal and women’s health and many more.
Horizon-scanning expert webinars
In January 2023 we launched LinkAGE (Linking Academia with Genomics Education), a new series of horizon-scanning expert webinars. The series features expert perspectives on exciting ‘bench-to-bedside’ projects likely to impact on clinical practice in the not-too-distant future.
Applicable to those working in rare disease, the webinars explore different subject areas and are presented by specialists, who share details of their cutting-edge research, new techniques and technologies, and any clinical implications there may be for healthcare professionals and patients.
The first two webinar recordings are now available, and others will later form a freely accessible compendium to help prepare the healthcare workforce for genomic advances.
Rare disease education hub
Launched on Rare Disease Day 2022, our rare disease education hub aims to help healthcare professionals better understand rare disease and support patients and families in their care. The hub features an introduction to the different types of rare disease, a brief look at the impact of genomics on diagnosis and a variety of patient stories. The resource also signposts to a range of other educational opportunities for health professionals who would like to learn more. The hub will continue to evolve as more resources become available.
Share your colours
To get involved this Rare Disease Day, join us on social media (@genomicsedu) and use the hashtags #RareDiseaseDay, #RDD2023, #ShareYourColours and #genomics.
