Studying lived experiences can help fill the ‘gap’ in rare disease training

Dr Lucy McKay

CEO, M4RD

The lack of dedicated rare disease training is common among UK medical schools. It is reflected in patient experience and the long road to diagnosis — which people with rare conditions commonly face. 

There is a gap in medical curriculums when it comes to training in the basics of rare disease. With the NHS facing a challenging time, this gap needs to be approached in a pragmatic way to empower healthcare professionals to optimally care for the 3.5 million people in the UK living with a rare condition.  

Rare disease training and education 

UK charity Medics4RareDiseases (M4RD) is advocating for dedicated rare disease training for medical students and doctors, using a novel ‘single discipline’ approach. There has never been a better time to ‘dare to think rare.’  

The Department of Health and Social Care recognises rare disease as a distinct and important area of public health. It published the ‘UK Rare Diseases Framework’ in January 2021 and highlighted ‘increasing awareness amongst healthcare professionals’ as a key priority.  

To increase awareness, we need a fresh approach to rare disease education. The aim is to instate dedicated rare disease training within medical curriculums — for it to eventually be compulsory and examined.  

While each rare disease is unique, there tend to be vastly overlapping experiences and needs among those living with these conditions.

Changing approaches to rare diseases 

Historically, medical schools have approached rare diseases individually, often within genetics modules. This is because 80% of rare diseases have a genetic origin. Teaching tends to focus on the science behind individual conditions and is rarely patient-centred.  

With over 7,000 unique rare conditions, single conditions are often cherry-picked to demonstrate principles such as genetic inheritance of metabolic pathways. This approach fails to include the 20% of rare diseases that do not have a genetic origin and removes the lived experience.  

While each rare disease is unique, there tend to be vastly overlapping experiences and needs among those living with these conditions. They face painfully similar challenges in terms of time to reach diagnosis and coordination of care.  

Dr Lucy McKay, M4RD’s CEO comments: “We advocate for practical teaching of the basics of rare diseases. In essence, to train medics to be aware of the relevance of rare disease to their clinical career; to develop a gut feel for when their patient might have a rare disease; to be empowered to manage their patients effectively within their role.” 

Practical rare disease education 

The charity works with patient advocacy groups and people with lived experiences of rare diseases. It is liaising with government groups to establish this essential education as part of medical curriculums.