Policy and Engagement Manager for Scotland, Genetic Alliance UK
Beyond investment in screening and diagnostic services, raising the profile of rare conditions among healthcare professionals is integral to helping people with rare conditions receive a faster diagnosis.
On average, it takes four years for someone to be diagnosed with a rare condition. The diagnosis journey can be challenging, often having a profound impact on a person’s physical and mental wellbeing.
Investing in faster diagnosis
The UK Rare Diseases Framework has rightly prioritised helping people with rare conditions to get a diagnosis faster. A fast and accurate diagnosis can open doors to better care, greater treatment choice and support that can help enable people with rare conditions to make better informed decisions about their care.
The Framework commits to building on the significant investment in genomic services that we have seen in recent years, with a promise to develop whole genome sequencing for newborn screening that will likely go some way to reducing the diagnostic odyssey for people living with rare, genetic conditions.
Support after diagnosis
However, faster diagnosis alone is not enough. People living with rare conditions must be supported from the beginning of their journey to the point of their diagnosis and beyond.
Many people with rare conditions describe it as a ‘fight’ or ‘struggle’ to have their symptoms believed or taken seriously by healthcare professionals. This can lead to harmful delays in diagnosis or misdiagnosis.
The fight does not end with diagnosis. Many healthcare professionals lack the knowledge and understanding of the rare condition to adequately support their patients to access the necessary care, support, treatment or research.
Experiences such as these can undermine a person’s confidence in their care and can have a significant impact on their mental wellbeing.
Many healthcare professionals lack the knowledge and understanding of the rare condition to adequately support their patients to access the necessary care, support, treatment or research.
Equipping health professionals
It’s not that healthcare professionals are uncaring or uninterested in rare conditions, it is that they are not adequately supported to deliver the best possible diagnosis experience.
Improving access to reliable information and training materials is essential to increasing healthcare professionals’ knowledge and awareness of rare conditions and ensuring that the needs of people with rare conditions are met.
It is quite right that there has been investment in helping people get a faster diagnosis, but we must not underestimate the importance of investing in supporting health professionals to deliver a good diagnosis.