The Role of the GP in Rare Disease Diagnosis and Care

With the average time it takes to receive a rare disease diagnosis currently over 5.6 years the role of Primary Healthcare professionals in the rare disease diagnostic journey is vital. In cases where a treatment option exists an early diagnosis is crucial to the success of the treatment and the possibility of reversing or stalling progressive symptoms.

For the 95% of rare disease patients for whom there are no available treatments a diagnosis can help families prepare for the journey ahead, making them more empowered to cope with the challenges of their condition.

However, for General Practitioners with limited time and budgets, ensuring their patients receive the right tests, referrals and ultimately an accurate diagnosis can be an uphill challenge.

Medics4RareDiseases (M4RD) was founded in 2011 by medical students who, having realised there was a lack of information on rare disease within their training, decided to set up the M4RD. This organisation aims to drive change in students and doctors’ attitudes towards rare diseases, to improve patient journeys and minimise diagnostic delays.

“GPs provide person-focussed holistic care and are perfectly placed to spot rare diseases. At M4RD we focus on identifying 'divergence from the norm' rather than diagnosis and in-depth knowledge of all rare diseases.” Dr Debra Fin, Medics4RareDiseases (M4RD)

The General Practitioner Challenge – Listening to rare disease patients

The first challenge for any primary healthcare professional is getting the right information from their patients during their consultation. Patients who have been experiencing ongoing, unexplained health concerns are likely to have begun their own research and may come armed with information they have found online. Whilst it can be easy to dismiss this, using skills to untangle which information is robust and which is poor quality and unreliable can be a positive step in unlocking valuable information. Patients and carers have a deep understanding of themselves and their children and this knowledge should not be underestimated. Listening to patients/parents always with belief in what they are saying is the key to both unlocking red flags quickly and giving patients confidence in their GP.

When patients were asked what was the one thing their GP could have done to improve the diagnostic journey “Believing me” is the number one response.

Nadia explains how being taken seriously could have meant their family spending more precious time with their daughter Alyssa and less time challenging Doctors.

Alyssa’s Story

Being continually disbelieved about her concerns for her son Nicola explains how her experiences left her feeling berated, belittled and patronised by the very people she needed to work with her to unlock the mystery of her son’s condition.

I’m big, you’re little; I’m right you’re wrong

The Mendelian website is visited thousands of times a week by patients looking for information on their diseases, we now offer a custom patient report indicating some of the possible rare disease diagnoses. This report can be presented to the patient’s clinician and aims to support patients in their consultations.

General Practitioners as Data Guardians

In the heightened era of GDPR the sharing of identifiable information has never been more heavily scrutinised. The sharing of patient data with secondary and specialist healthcare professionals is an essential part of receiving a timely diagnosis and for coordinated healthcare. It is vital that when making referrals, specialist consultants receive not only all signs and symptoms found by the GP but also those by the patient/parent. Including observed evidence, photos and videos taken by the family, but that may not have been seen by the GP, is highly relevant to working out the final diagnosis. Various tools have been built to facilitate the sharing of patient details between clinicians, labs and other players in the rare disease ecosystem (Phenotips).

With many practices citing GDPR as a reason for poor information sharing between NHS facilities and staff the role of the National Data Guardian aims to improve this. The National Data Guardian (NDG) was created to help make sure the public can trust their confidential information is securely safeguarded and make sure that it is used to support citizens’ care and to achieve better outcomes from health and care services.

The NDG aims to build trust in the use of data across health and social care and uses the following three principles to achieve this;

  • encouraging the sharing of information between clinicians and other members of care teams to facilitate coordinated care and improved diagnosis and treatment
  • ensuring there is clarity and that patients both understand and consent to how their health and care data is being used
  • consulting with the public about how we all wish information to be used. This will include a range of voices including companies providing drugs and services to the NHS, researchers discovering new transformative treatments, and those managing services

Effective Signposting and Treatment for Rare Disease Patients

With over 7000 known rare diseases, most of which a GP will never have come across in their careers, it is impossible for GPs to understand all of these conditions enough to be able to give effective advice and signposting both before or after a diagnosis.

The multi-system nature of rare disease can make finding the right referral pathway challenging for GPs. Documenting patient/parent insights as described above can help to open the correct pathway.

Support for Patients

A rare disease diagnosis can be a frightening time for families who can be left feeling powerless and isolated. Most will leave the consulting room with very little information and, with a lack of rare disease specialists, patients will turn to the internet to find out about this new rare disease enemy. The internet can be a very terrifying place with incorrect or outdated information.

Primary healthcare providers need to understand both how to access support groups and charities and what value they provide. There are many excellent groups and websites providing accurate information and linking families to others in their position. GPs should not be afraid to provide these links which offer a life line to many.

“We came out of the consulting room with just a name for the condition, no other information, nowhere we could turn to for help or guidance, I felt completely alone and worried that I didn’t know how to look after my son” Tracy Milne.

Tracy Milne went on to form the Alfie Milne Trust so that others in her position had a place to turn to.

Treatment and Communication for Rare Disease Patients

The ongoing management of rare disease patients is complicated by current NHS protocols where patients must first go through the GP. The GP can be very much in the dark with the patient/parent taking the lead. Understanding how to engage and communicate with expert patients is key to building a good relationship and avoiding conflict with those living with rare disease.

The emergency care of rare disease patients is a particularly frightening and stressful time where patients and caregivers often battle with emergency room staff, who, whilst trying to do what they feel is the best for the patient and may be lacking medical records, don’t always take a moment to listen to expert patients and carers that may have a better understanding of the condition. There is much to be done to raise awareness amongst emergency medical staff around the treating of rare disease patients.

Genomics and Primary Healthcare

Genomics is becoming ever more important as a diagnostic solution in rare disease and cancer. With the success of projects such at the recent 100,000 Genome Project and Deciphering Developmental Disorders (DDD) there is a greater need for GPs to keep up to date using resources such as Clinical Knowledge Summaries, produced by NICE and the NHS Website (formerly NHS Choices). In addition, the Genomics Education Programme (GEP) is an NHS programme aimed at ensuring its staff have the knowledge, skills and experience to ensure that the NHS remains a leader in genomic and precision medicine.

The GEP achieves this by:

  1. Supports those medical professionals involved in the 100,000 Genomes Project and Microbial Genomes work
  2. Supports the wider transformation to integrate genomic technologies into healthcare
  3. Training existing staff so they can take full advantage of the genomic technologies in their workplace

Engaging Primary Care

Developments in genomics are going to more and more impact those working on the front line of primary care. The GEP strategy document identifies this educational need, provides details of existing resources and outlines the action plan to raise awareness of genomics in primary care. You can download the primary care strategy here.

If you would like to be signposted to a rare disease support group or for rare disease resources, please contact the following rare disease umbrella groups and alliances.


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