As many in the rare community already know, nothing is worse than having to fight for your care when you are physically and emotionally drained. The diagnostic odyssey (the time between experiencing symptoms and receiving an accurate, final diagnosis) is long, strenuous and overwhelming. Receiving an accurate, final diagnosis breaks the isolation initially felt by patients and their families, as it answers long-standing questions and provides a better understanding of the disease and what it means for the future.
Receiving a diagnosis faster is vital for these reasons. It is why reaching a diagnosis quicker is Priority 1 in the UK Rare Disease Framework and Action Plan. Genetic Alliance UK’s Good Diagnosis report acknowledges this welcomed priority, but stresses that receiving a speedy diagnosis is only half the battle.
If you haven’t had the chance to read the full report yet, we’ve condensed its 29 pages into one blog to bring you its findings quickly and concisely. Let us know what you think of this brilliant report on social media!
*Please note: This report is not a criticism of the NHS or those working within it to care for those living with a rare disease. Genetic Alliance UK’s Good Diagnosis report simply acknowledges the systems and structures that aren’t in place but should be to support healthcare professionals in delivering a ‘good’ diagnosis.
In December 2021, Genetic Alliance UK set out to better understand the experience of diagnosis by speaking with those who are living with a rare condition.
Their report ‘Good Diagnosis: improving the experiences of diagnosis for people with rare conditions’ discusses three key stages – the search for a diagnosis, receiving a diagnosis and life post-diagnosis – and the experiences that occur throughout each.
The Good Diagnosis report concludes with four recommendations on how to improve the diagnosis experience based on conversations with those living with a rare condition during Genetic Alliance UK’s ‘Good Diagnosis’ workshops.
Genetic Alliance UK’s recommendations
Recommendation 1
The UK Rare Disease Framework Delivery Partners should consider developing a central repository, such as an online portal, to store information on rare diseases for healthcare professionals to access. This repository should contain:
- NHS branding
- Condition-specific information
- A list of specialist services available in the UK alongside their contact details and referral criteria
- A list of patient support groups available
- Training materials and resources
Recommendation 2
Those with a rare condition should be given a diagnosis care plan when they begin the journey to attaining an accurate, final diagnosis. A diagnosis care plan should include:
- A description of symptoms and how they’ll be managed
- The steps that will be taken to reach a diagnosis, such as which tests need to be done and what referrals need to be made
- How the affected individual’s mental and emotional wellbeing will be supported
- How the individual’s family unit will be supported
Recommendation 3
Those living with a rare disease in the UK should be offered access to a designated care coordinator. The care coordinator’s role is to bridge the gap between patients and healthcare professionals. They would ensure that a care plan is put in place and acted upon.
Recommendation 4
A Rare Conditions Good Diagnosis Patient Rights Charter should be developed to set a standard of care that those living with a rare disease can expect to receive. This charter should be included in each national Action Plan.
What is a good diagnosis?
The Good Diagnosis report discusses in detail four key elements that define a good diagnosis. According to this report, a good diagnosis is:
- Timely and accurate
- Informed and supported
- Collaborative and coordinated
- Acknowledged and respected
The bottom line
Healthcare professionals who recognise and are aware of rare conditions are central to a good diagnosis. The experience of diagnosis is significantly influenced by the healthcare professionals who are involved in a patient’s care.
If you’re a healthcare professional or trainee doctor, nurse or biomedical student, we highly encourage you to get in touch with Medics 4 Rare Diseases. Their free, certified online course ‘Rare Disease 101’ covers:
- What a rare disease is
- How to suspect a rare disease
- The challenges faced by those living with a rare condition
- How you can support those living with a rare disease
It’s time to #DareToThinkRare!
Make a positive difference in the lives of rare patients and their families who are counting on you to deliver a good diagnosis.
