According to Rare Disease UK’s 2019 report ‘The Rare Reality’, the average rare disease patient consults with five doctors, receives three misdiagnoses and waits four years before receiving a correct diagnosis. Even after diagnosis, patients may struggle to receive the right treatment and care. A reason for this may be the limited awareness and understanding of rare diseases amongst some medical professionals.

As rare disease patients can often be considered experts in their disease, they can provide education and outreach to medical professionals:

  • To raise awareness of their disease to medical professionals to improve their diagnosis of future patients with the disease.
  • To educate medical professionals on the disease to further their understanding of the disease and improve diagnosis, treatment and management.
  • To provide insights into how the disease and treatment can impact the daily lives of rare disease patients.

This section highlights the importance of patient group outreach to medical professionals, with some examples such as online medical education and outreach through e-learning modules and websites, and face-to-face medical education and outreach such as information packs.

Identifying Your Audience

A key first step in an education and outreach project is to work out who you are trying to reach. It is best to develop materials specifically for the medical professionals who are likely to come across patients with a particular rare disease. In order to work out who to target, it can be useful to think about the journey people living with the rare disease go through during diagnosis and treatment:

  • Is getting an initial referral from a GP difficult, or do GPs generally not make appropriate referrals?
  •  Are there any bottlenecks in the diagnosis and treatment pathways?
  • Is there a specific type of medical professional (e.g. neurologist, dermatologist or geneticist) that most patients will meet on their route to diagnosis or treatment?
  • Do patients tend to find that a certain type of medical professional does not fully understand their disease?

It is important to bear in mind that some medical professionals may be wary of medical information produced by non-medical professionals. You should therefore try to build a credible perception of your patient group and the materials you produce. This can be achieved by having medical professionals involved in advisory roles or collaborating with a clinician to write your educational materials. This will ensure information published is medically and scientifically correct and trusted by medical professionals.

The following section will explain the different types of materials that patient groups can develop in order to raise awareness of their disease to medical professionals.

Medical Education and Raising Awareness Online

E-learning Modules

E-learning modules and online resources are a powerful way to share information about a rare disease with medical professionals. Online content has the advantage that it can be easily and regularly edited, so you can make sure your modules are always up-to-date. Electronic resources are also easy to distribute as links can be included in emails and online newsletters. Ensuring that your web pages can be found via search engines will also allow your resources to easily be found.

There are, however, a number of things to consider carefully when planning and developing these resources:

  • You should first consider the most appropriate platform to present your modules. Depending on your target audience, you may want to approach an accredited medical professional association or organisation to help develop and/or host the resource. For example, if the module is aimed at GPs, working with the Royal College of GPs (RCGP) may be useful, whereas approaching the Royal College of Nursing Institute (RCNi) may be more appropriate if your information is directed towards the nurses who interact with and care for rare disease patients.
  • Developing e-learning resources can be a lengthy process, and time will be needed to upload them to the website and test before they go live. Time will also need to be factored in for materials to be reviewed by any other organisations, such as professional associations you are working with.
  • E-learning modules can be expensive to develop due to the costs associated with producing content for the web and hosting modules on a website. Therefore, it may be useful to consider any existing grants or whether you could raise money to fund the module.
  • Securing Continuing Professional Development (CPD) accreditation for your resources is a great step towards engaging medical professionals. For medical professionals to meet professional standards and continue to practice, they must gain a certain number of CPD credits each year. Having CPD accreditation will therefore provide an incentive for medical professionals to complete your e-learning modules and share them with colleagues.

Gaining CPD accreditation

  • Gaining CPD accreditation can be challenging due to the number of compliance considerations. Even if CPD accreditation is not something you are able to achieve in the present, it can still be a goal to look towards in the future.
  • As online e-learning modules can be expensive to develop, you may want to look to develop cheaper materials such as information packs (see later section of the course).

Case Study: Alkaptonuria (AKU) Society E-learning Modules

The AKU society developed e-learning modules for medical professionals in order to raise awareness of AKU, a rare genetic disorder. The aim was to improve diagnosis of AKU and access to the National AKU Centre for diagnosed patients. In collaboration with the RCGP and the RCNi the AKU Society developed learning modules for each of these organisations.

The RCGP e-learning module was developed specifically for GPs and secured CPD accreditation. Costing £10,000 to develop, the module was written by medical professionals from the National AKU Centre, AKU patients, AKU society and a team from RCGP.

The RCNi e-learning module was subsequently developed for nurses, by adapting the RCGP materials, to save costs. The module was publicised via a bespoke email to the entire RCNi database and a banner for the RCNi website and Nursing Standards subscriber e-alerts.

The AKU society also developed business cards to distribute at conferences and hospitals, for GPs and nurses, to provide details of their e-learning modules.



Medical professionals may actively search online for information about a rare disease that they come across. Therefore, many charities now have a dedicated area on their website for medical professionals. A strong online presence and a high-quality website is an extremely useful tool for raising awareness of a disease and providing educational materials.

Your website should be easily searchable, easy to read and up to date, so that any medical professionals visiting it can see that your organisation is legitimate. Creating a dedicated section for medical professionals, which can easily be identified and navigated to from the home page, makes it easy for clinicians to find the information they are searching for. This area of your website could include:

  • Diagnosis information on the signs and symptoms of the disease, how the disease can be diagnosed and the referrals a GP may need to make for diagnosis.
  • Treatment information including available therapies and management and care strategies.
    o To help different medical professionals find the most relevant information for them you may want to split this section by specialty e.g. GPs, nurses, occupational therapies etc.
  • Patient information including how medical professionals can best communicate with and support their patients. This could include information on how to best explain complex rare diseases to patients and take into account patient preferences when planning treatment.
  • Details of rare disease events including conferences or family days that may be of interest to the medical professional.
  • Links to other learning resources including important scientific publications and PDF copies of any physical resources you’ve developed.

Some great examples of website areas for medical professionals include:

  1. The ‘Information for Healthcare Professionals’ section on the Addison’s disease website, providing a range of information and guidance for all medical professionals involved in the diagnosis and care of patients with Addison’s disease.
  2. The section ‘For Medical Professionals’ on the Schinzel-Giedion Syndrome Foundation website, providing the information about Schinzel-Giedion Syndrome that is relevant to medical professionals.

In this video from the Virtual Rare Disease Showcase in 2020, Lucy Mckay CEO at Medics4RareDiseases gives some of her top tips for patient groups hoping to get medical professionals on board.