Taking action on Rare Disease Day 2022
The Genomics Education Programme supports the launch of a new action plan for rare disease in England and releases new awareness-raising resources
First established by Rare Diseases Europe (EURORDIS), Rare Disease Day is a globally co-ordinated movement to raise awareness of rare diseases and advocate for patients and families affected by rare conditions around the world.
It is fitting that the UK government has chosen this day, 28 February, to publish a new action plan for rare disease; while Health Education England’s Genomics Education Programme (GEP) is also marking the day with the publication of a new rare disease education hub and short film.
The UK Rare Disease Framework and Action Plan
Despite the enormous progress that has been made in the field of rare disease, there is much more still to be done.
In January 2021, the UK government published The UK Rare Disease Framework. This framework identified four high-level priorities in the field of rare disease, and called on each of the UK nations to develop action plans addressing key issues facing both patients and health professionals.
Today, England launches its action plan. All four UK nations will publish their own action plans, focused on tackling the key priorities of the framework but taking into account their unique population and service needs.
New film: ‘Shining a Light on Rare Conditions’
To mark this Rare Disease Day, Genetic Alliance UK has collaborated with ITN Productions Industry News to produce an awareness-raising film.
The news-style programme features interviews with key industry figures as well as patients and families. The GEP has worked with the ITN Productions team to contribute a segment for the programme, shown below. In this part of the film, we hear from the Child family and the impact of their daughter Georgia being diagnosed with the rare genetic condition Silver-Russell syndrome.
General practitioner Will Evans is also interviewed in the piece, and he explains how testing for rare conditions is moving beyond specialist genetics clinics into many other healthcare settings. He highlights the importance of healthcare professionals having access to the right education that is relevant to their clinical practice.
Also featured in the film is the GEP’s director and consultant clinical geneticist, Kate Tatton-Brown, who talks about how faster, cheaper genomic sequencing tests are leading to better outcomes for families with rare conditions. She also draws attention to the GEP’s educational opportunities, including GeNotes, an upcoming ‘just in time’ educational resource to help clinicians make the right genomics decisions at each stage of a clinical pathway.
New rare disease education hub
The UK Rare Disease Framework identified the education of NHS staff as a key area of focus. The GEP has a primary role in tackling priority areas 1 and 2 of the framework:
- Helping patients get a final diagnosis faster.
- Increasing awareness of rare diseases among healthcare professionals.
As part of its mission to facilitate increased awareness, the GEP today launches a new education hub for rare disease, designed to provide an overview as well as to put into context the role of genomics. The resource also signposts to a range of other related educational opportunities for health professionals.
The intention is that the hub will evolve over time to support England in delivering on the objectives of the action plan. The programme welcomes contribution and you can contact us here.
Special thanks
The GEP works with several professional and patient groups, as well as clinicians, to develop its educational resources. The programme would like to thank all of its partners and stakeholders for their involvement. We extend special thanks to: Lucy McKay from Medics4Rare Diseases for her guidance; and also to GP Will Evans and Jenny, Nick and Georgia Child for their contribution to the new film.
Get involved
Join us on Twitter (@genomicsedu) on Monday and use the hashtags: #RareDiseaseDay #RareDiseaseDay2022 #DareToThinkRare #LightonRare
