Summary of Genetic Alliance UK’s Good Diagnosis report

by | Mar 21, 2022 | Blog, Rare disease world

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:

1. Timely and accurate
2. Informed and supported
3. Collaborative and coordinated
4. Acknowledged and respected

We delve into each criterion below.

A good diagnosis is timely and accurate

A faster diagnosis results in more treatment and support options for patients and their families. Receiving an accurate, final diagnosis allows patients and their families to make more informed decisions about how best to manage their condition.

Delays in diagnosis impact an individual and family’s mental health for many reasons. Individuals and families experience anxiety while awaiting answers, as well as stress and worry about what the future may hold.

Barriers to a timely and accurate diagnosis that were mentioned during the workshops were:

•  Not being listened to by healthcare professionals
•  Not having symptoms and concerns taken seriously by healthcare professionals
•  Healthcare professionals having limited knowledge of rare diseases
•  Delays in healthcare professionals making referrals or ordering tests
•  Delays between appointments and test results
•  Poor coordination between healthcare professionals

The group stated that their “unusual symptoms” were often chalked up to an unusual presentation of a common disease, not a rare one. Individuals were routinely dismissed or not believed when presenting with symptoms by healthcare professionals. It was reported that many individuals had their symptoms misdiagnosed as a mental health condition. Their physical symptoms were being treated as psychological symptoms, which they were not.

This disheartening experience was most reported by women and ethnic minorities. Age, gender, ethnicity and social class influenced how an individual was treated when seeking care, further highlighting ethnic inequalities. It’s important to note that parents have also been made to feel guilty for their child’s genetic condition due to cultural practices, such as marriages between close blood relatives.

Individuals expressed being frustrated by the time wasted attending appointments and repeating the same symptoms without action being taken. Those living with a rare condition expect healthcare professionals to:

•  Be open to exploring rare diseases as a possible diagnosis
•  Acknowledge their limited knowledge and understanding of rare diseases
•  Be willing to undertake research and training to better understand rare diseases
•  Make speedy referrals to specialist services to get a diagnosis
•  Eliminate pre-conceived ideas and assumptions based on ethnicity or religion
•  Make information accessible and easy to access

Healthcare professionals should not be expected to know every rare disease.

A good diagnosis is informed and supported

Processing difficult and complex information can be overwhelming and isolating. Workshop participants stated that they would have liked professional support during this time. Having someone to converse with about their rare condition, worries and questions would have made the difference.

Those living with a rare disease need to be informed of the help and resources that are available to them. By being made aware of these resources, patients can research their condition and get support from a patient group. It is vital that patients are given the name of the corresponding patient groups early in their diagnosis to ensure that they have up-to-date, reliable information on their specific condition. A lack of tailored and factual information results in patients making uninformed decisions, poor disease management and delays in access to care, treatment and services. Patients are searching for information on their own, which means that there is a high likelihood that they will stumble upon information that’s outdated, inaccurate or upsetting if they don’t connect with a patient group first.

Little information exists for what can be expected before, during and after a rare diagnosis. This lack of guidance means that patients don’t have a clear understanding of the challenges that they’ll face on the way to a diagnosis or how long it’ll take to reach one. Workshop participants said they felt more confident attending appointments when they were empowered with knowledge and could challenge decisions about their care. Patients felt confident advocating for themselves when they knew their healthcare rights and how to enforce them. Patients simply want to know and understand what they can expect from health services, what is expected of them and what they can do when they aren’t satisfied with the care they’re receiving.

Rare diagnosis: Impact on mental and emotional wellbeing

Mental health services are rarely available or offered to those living with a rare condition. The Good Diagnosis report lists the three key stages when mental health support is needed:

1.  Journey to diagnosis – often long and frustrating
2.  At the time of diagnosis – emotionally challenging and overwhelming
3.  Post diagnosis – anxiety and depression in response to the diagnosis

How a diagnosis is delivered is crucial. The diagnosis must be delivered with compassion and recognition of its significance to the individual and his or her family. It’s important to note that patients can experience anxiety and depression on and off for years post-diagnosis. A rare diagnosis has a long-term impact.

Those living with a rare condition have requested mental health services, but sadly didn’t receive it or experienced significant wait times to access the support. It is why healthcare professionals should integrate mental health support into a patient’s care plan, as many don’t know where to seek help. The profile of rare diseases needs to be raised within social care.

A good diagnosis is collaborative and coordinated

Healthcare professionals must consider the following when delivering a rare diagnosis:

•  Location
•  Timing
•  Amount of information shared
•  Support services that should be recommended
•  Decisions on what should happen next

A rare diagnosis should be delivered by someone who knows the condition or rare diseases in general. He or she must be able to explain what the condition means for the person. If he or she has limited knowledge of the disease or rare diseases in general, this should be acknowledged and explained.
A diagnosis should be delivered face-to-face whenever possible. Information detailing what to expect during the appointment should be sent prior to the day. The information shared must be factual, but reassuring. It is not best practice to only present the worst-case scenario or rush the appointment. It is highly encouraged to leave time for questions and discussion with the patient.

The following should be shared during the appointment:

•  Relevant patient groups for the condition
•  Leaflets on the condition
•  Contact details for follow-up support

Mental health support should be offered, and a follow-up appointment scheduled. Only discharge a patient when he or she is ready, not automatically.

Those living with a rare condition feel that there is an imbalance in the relationship between patients and healthcare professionals. Patients want to feel that they are an active and valued partner in their care. They want to be informed, consulted and able to participate in the decision-making process.

Workshop participants expressed frustration at the lack of communication between different parties involved in their care. Patients shouldn’t have to chase up their own appointments, test results or referrals, especially when feeling physically and emotionally drained. Late referrals and poorly updated health notes result in a lack of confidence in one’s care.

Why referrals weren’t made by healthcare professionals

Workshop participants revealed five reasons why healthcare professionals may have refused to refer them to a specialist:

• They didn’t want to accept that they didn’t have sufficient expertise to diagnose or manage a patient with a rare disease
•  They were intrigued by the possibility of a rare diagnosis and didn’t want to ‘give up’ the patient
•  They didn’t accept the patient’s suggestion of what the diagnosis may be and weren’t prepared to make a referral
•  They didn’t agree or accept the diagnosis that was made by another healthcare professional
•  They didn’t know how to make a referral in a different part of the UK or different healthcare system

Workshop participants reported that when a specialist delivers a rare diagnosis, other healthcare professionals may not acknowledge or respect their verdict. If this happens, healthcare professionals may:

•  Receive results of a diagnostic test, but not share them with the patient because they’ve deemed them unimportant
•  GPs continue to make referrals for tests to try and disprove the diagnosis. GPs may also openly say that they don’t believe the diagnosis
•  Disagree with the diagnosis and don’t make referrals or begin the appropriate treatment

Fragmented care and communication between one’s GP and his or her specialist team made those living with a rare condition feel ‘lost in the system.’ It is why those living with a rare disease should be offered a designated care coordinator, such as a specialist nurse or social worker, who would ensure that a care plan is in place and acted upon.

A good diagnosis is acknowledged and respected

A diagnosis is not the end of the journey. Sadly, those living with a rare condition aren’t offered follow-up support after a diagnosis is made. A rare diagnosis requires time to process. It should be expected that the individual and his or her family will come back with questions after feeling overwhelmed and stressed when the diagnosis was initially made.

We’d like to conclude our summary by highlighting the diagnosis experience by the numbers. Each statistic is from either a Genetic Alliance UK or Rare Disease UK survey.

88% of respondents had a diagnosis, but 35% of these waited more than five years for one ¹

8.8% of respondents were undiagnosed with almost two-thirds of these individuals being undiagnosed for more than five years ¹

33% of respondents who did have a definite diagnosis experienced two or more misdiagnoses prior to their diagnosis ¹

56% of respondents without a definitive diagnosis said that they’d been misdiagnosed in the past ¹

45% stated that online forums were their main source of support and information followed by patient organisations at 41% ¹

50% of patients and carers were never asked by healthcare professionals about their mental health ²

82% of respondents agree or strongly agree that being asked more frequently about their wellbeing and mental health by healthcare professionals would improve their mental health ²

45% of diagnosed respondents were diagnosed by a doctor who specialises in a specific rare condition ¹

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.