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Earlier, faster and more accurate diagnosis

Rare diseases affect millions of people around the world, yet many remain undiagnosed or misdiagnosed for years. A timely and accurate diagnosis is essential for people living with a rare disease, as it can mean access to the right treatments and support, and ultimately improve their quality of life.

However, diagnosis of rare diseases is often difficult and can take years, leading to significant delays in treatment and considerable challenges for patients, families, and healthcare systems. Results from Rare Barometer surveys show that:

It takes on average 5 years for rare disease patients to get a diagnosis.

70% wait more than 1 year to get a confirmed diagnosis after coming to medical attention.

44% had to consult with more than 4 healthcare professionals before receiving a diagnosis.

94% support the diagnosis of rare conditions at a child’s birth.

Why diagnosis matters for rare diseases

The diagnosis of rare diseases is crucial for several reasons. Firstly, the timely and accurate diagnosis of a rare disease can enable patients to receive appropriate medical care and management. This can help to alleviate symptoms, slow disease progression, and improve the overall quality of life. Secondly, an accurate diagnosis can help to identify other family members who may be at risk of developing the same disease, allowing for early screening and intervention. Finally, an accurate diagnosis can help to reduce the emotional and financial burden on patients and their families by providing clarity and guidance on treatment options and prognosis.

However, diagnosis of rare diseases can be challenging due to the lack of awareness among healthcare professionals, limited access to diagnostic tools, and high cost. Many rare diseases have similar symptoms to more common conditions, making it difficult for healthcare professionals to identify them. Additionally, diagnostic tests for rare diseases can be expensive and may not be covered by insurance, making them inaccessible to many patients.

‘Not yet diagnosed’

‘Not yet diagnosed’ refers to a patient whose disease has not been diagnosed because the patient has not been referred to the appropriate clinician due to common, misleading symptoms, or an unusual clinical presentation of a known rare condition.



‘Undiagnosed’ (Syndromes Without a Name or SWAN) refers to a disease for which a diagnostic test is not yet available; the disease has not been characterised and the cause is not yet identified. This patient can also be misdiagnosed as his/her condition can be mistaken for others. These conditions are also likely to be rare.

EURORDIS objectives in the area of diagnosis

One of EURORDIS’s main objectives in the field of diagnosis is to increase awareness of rare diseases among healthcare professionals, policymakers, and the public. This includes promoting the development of guidelines for the diagnosis and management of rare diseases, as well as supporting training programmes for healthcare professionals to improve their knowledge and skills in this area.

EURORDIS also aims to improve access to diagnostic tools and services for patients with rare diseases. This includes advocating for the development and implementation of new diagnostic technologies, as well as working to reduce the cost and improve the availability of existing diagnostic tests.


Improved access to timely and accurate diagnosis


Promoting equity in access to diagnostic technologies and programmes for people living with a rare disease or suspected rare disease, no matter where they live


Enable people with rare diseases to navigate health systems with ease and ensure care pathways that most efficiently accompany them from diagnosis to highest quality care and where possible ERNs


Ensure an integrated, international approach to patients with currently undiagnosable conditions, ensuring the absence of diagnosis does not preclude access to the best possible care and support

EURORDIS initiatives, projects and networks

EURORDIS is dedicated to enhancing access to timely and accurate diagnosis for individuals living with rare diseases through a range of initiatives, projects, and collaborations at European and International levels.

EURORDIS has launched several initiatives to improve diagnosis for rare diseases. These initiatives include:

  1. Rare Disease Day: An annual event held on the last day of February to raise awareness of rare diseases and the need for improved diagnosis, treatment, and care.
  2. Rare Barometer Programme: A survey-based initiative that collects data from rare disease patients and their families to better understand the challenges they face, including issues related to diagnosis.
  3. RareConnect Platform: An online platform that connects rare disease patients, caregivers, and advocates from around the world. The platform provides a space for users to share information and resources, including information on diagnosis and treatment.
  4. EURORDIS Open Academy: EURORDIS hosts an annual School on Scientific Innovation and Translational Research and provides a number of diagnosis-related online training resources. The school equips patient advocates with knowledge on the rare disease research environment, genetics, diagnosis research and state of play in diagnosis, data sharing and gene therapies.
  5. Newborn Screening Working Group: In 2019, EURORDIS created the Newborn Screening Working Group, which reviews current policy and practice in newborn screening (NBS) programmes in order to develop recommendations for the harmonious adoption of NBS programmes across EU Member States.

Learn more about EURORDIS initiatives

EURORDIS has been actively involved as a partner in various projects on rare disease diagnosis. These include:

    1. Screen4Care: EURORDIS is a partner in the Screen4Care project, a 5-year IMI project that offers an innovative research approach to accelerate rare disease diagnosis. The project is based on two central pillars: genetic newborn screening and digital technologies.
    2. Solve-RD: EURORDIS is a partner in the Solve-RD project, a research initiative funded by the European Commission that aims to improve diagnosis for rare diseases through the use of cutting-edge genomic technologies. The project involves a consortium of 25 partners from across Europe and is focused on identifying the genetic causes of rare diseases.
    3. European Joint Programme on Rare Diseases (EJP RD): EURORDIS is a key partner in the EJP RD, a research initiative funded by the European Commission that aims to create a comprehensive, sustainable ecosystem for rare disease research in Europe. The EJP RD brings together 130 institutions from 35 countries to collaborate on research projects, with a focus on improving diagnosis and treatment for rare diseases.
      • As part of the European Joint Programme on Rare Diseases, EURORDIS also facilitates the participation of patient representatives in trainings on registries (the International Summer School on Rare Disease Registries, organised by the ISS) and leadership skills (the EURORDIS Leadership School).
      • EURORDIS has also co-developed Massive Open Online Courses as part of the EJP RD, including one on diagnosis: “Diagnosing Rare Diseases: from the Clinic to Research and Back

Learn more about EURORDIS projects and partnerships

We have also been a partner of several international and regional networks and initiatives aimed at improving access to timely and accurate diagnosis for people with rare diseases. These include:

  1. European Reference Networks: EURORDIS played a key role in the creation of the ERNs, which connects researchers and clinicians to facilitate access to timely diagnosis across Europe. EURORDIS also plays a key role in the engagement of patients in the ERNs through the European Patient Advocacy Groups (ePAGs).
  2. Undiagnosed Diseases Network International: EURORDIS is a partner in the Undiagnosed Diseases Network International, a global network of healthcare providers and researchers dedicated to solving the most challenging medical cases. The network brings together experts from across the world to collaborate on research and improve diagnosis and treatment for patients with undiagnosed rare diseases.
  3. Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease: EURORDIS co-chairs the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease, a multidisciplinary group of experts that has developed an actionable roadmap to guide the rare disease field in shortening the diagnostic odyssey.
  4. Rare 2030 Foresight Study: EURORDIS coordinated the Rare 2030 Foresight Study (2019-2021), a project funded by the European Commission that aimed to develop a roadmap for rare disease policies in Europe for the next decade. The study involved a broad range of stakeholders from across the rare disease community and provided policy recommendations to improve the lives of people living with rare diseases.

Learn more about EURORDIS projects and partnerships

Through these initiatives and projects, EURORDIS is making significant strides in improving diagnosis for rare diseases. However, there is still much work to be done, and EURORDIS remains committed to working with partners from across the rare disease community to improve the lives of people living with rare diseases.

“If you have a rare disease, your chances of being diagnosed often depend on where you are born. This is why I am part of the EURORDIS Newborn Screening Working Group. I want to contribute to improving newborn screening programmes and earlier, accurate diagnosis of rare diseases.”

Eduardo López, President, Spanish Lysosomal Acid Lipase Deficiency Patient Organisation (AELALD)

Call to Action and Policy Recommendations

All people living with a rare disease known in the medical literature will be diagnosed within six months of coming to medical attention.

All people will have access to the most effective diagnostic technologies, best practices and programmes (including screening) without discrimination and regardless of where they live in Europe.

All currently undiagnosable individuals will enter a European and globally coordinated diagnostic and research pipeline.

To improve diagnosis rates and reduce diagnosis delays, EURORDIS, through the Rare2030 Foresight Study and its call for European action on rare diseases, with the Rare2030 partners and panel of experts, have developed several policy recommendations for earlier, faster and more accurate diagnosis of rare diseases.

The recommendations are:

  • Promote equal access to diagnostic opportunities for people with rare diseases, irrespective of their location.
  • Enable patients to navigate health systems with ease, follow the most appropriate route to diagnosis, connect with others in similar situations, learn to manage their disease, and participate in research in a timely and safe manner.
  • Co-design care pathways with healthcare professionals and patients to guide people from diagnosis to the highest quality care.
  • Foster European and global networking of specialised healthcare providers to improve diagnostic expertise, ensuring greater interoperability and standardisation of data to support diagnostics, particularly for complex and rare cases.
  • Ensure an integrated, international approach to patients with undiagnosable conditions to provide them with the best possible care and support.
  • Raise awareness about rare diseases among healthcare professionals and specialists and include rare disease topics in medical curricula.
  • Facilitate and speed up access to diagnosis by fostering the equitable implementation of next-generation sequencing and emerging technologies in national healthcare systems.

Improving existing solutions' accessibility and usage in a coordinated diagnostics ecosystem.

At the European and global levels, there should be a systematic approach to rare disease diagnosis that guides patients towards expert centres and transnational diagnostic platforms while collecting and managing patient data. Funding bodies should also target diagnostics for culturally diverse populations and support research into rare diseases with no known genetic cause.

At the national level, countries should define clear strategies to support rare disease diagnosis, strive to meet the goal of accurate diagnosis within one year, and ensure an available and trained workforce. They should also implement EU-level best practices, promote cultural awareness, and share best practices and data. Finally, there should be a greater focus on preconceptional prevention and care for rare diseases.

Connecting improved diagnostic processes to care pathways

National and European authorities should prioritise improving the diagnosis process for rare diseases by establishing care pathways and ensuring referrals to specialist centres at the earliest opportunity.

Electronic health records sharing should also be implemented to increase diagnostic efficiency, along with raising awareness of rare diseases in primary care.

Healthcare professionals should be encouraged to refer patients more readily when unsure of their condition, and symptom-checking suspicion prompt tools should be invested in.

National referral pathways to tertiary centres of expertise should also be made available, and mandatory medical training for all healthcare professionals should include education on rare diseases.

Online training and accredited courses in rare diseases should be provided to primary care workers.

Promoting strategic collaboration to meet the needs of undiagnosed patients

Countries should follow the International Joint Recommendations for Undiagnosed Rare Disease Patients. 

Research should be conducted to determine the number of undiagnosed rare disease patients and the socio-economic impact on their lives. 

Health information systems should properly code undiagnosed patients with specific annotations and codes for traceability and appropriate action from healthcare providers.

While awaiting a confirmed diagnosis, undiagnosed patients should still have access to appropriate health and social services: 

  • Cross-country explorations should assess the feasibility of temporary diagnosis based on symptom clustering. 
  • European guidance for genetic counselling should be implemented. 
  • European countries should agree on a strategy for sharing core case details and samples for unsolved patient cases.

Implementing new technologies for diagnostic purposes

At the European level, continued support is needed for multinational research initiatives that link omics data, clinical data, and biomaterials with well-defined patient cohorts. It’s important to ensure equal implementation of modern diagnostic technologies across all countries, including preconception techniques, maternal blood tests, ultrasound, chorionic villus sampling, and genome sequencing in newborn screening programmes. Robust data should be collected and analysed to evaluate the impact, diagnostic utility, clinical utility, and cost-effectiveness of new technologies. 

At the national level, countries should expand access to scientific advancements like next-generation sequencing, imaging, artificial intelligence, and other digital solutions in a clinical setting. They should also deploy a wider range of agreed ontologies in health and research data capture systems to support diagnostics and facilitate the extraction and mining of information. Countries should ensure an available and appropriately trained workforce and funding to support new diagnostic technologies.

“My disease is extremely rare as there are only nine people living with this disease today, me included. I would like to see the creation of a worldwide network of patients (patient database) as a prerequisite to launch clinical trials and to improve research and diagnosis of my disease.”

Rare Disease Patient


How can you and your patient organisation make a difference in improving diagnosis?

Patients can advocate for the sharing of patients’ genetic data and clinical information so that researchers can match patients with very rare genetic variants and therefore confirm a diagnosis. You can also advocate for wide implementation of next-generation sequencing within your health systems to improve diagnosis.

To learn more about how you can become a better patient advocate at the EU level, consult our Rare Disease Week page.

To gain knowledge on the processes around diagnosing a rare disease so that they can influence change, patient advocates can also participate in the EURORDIS School on Scientific Innovation and Translational Research.

EURORDIS is dedicated to enhancing access to timely and accurate diagnosis for individuals living with rare diseases through a range of initiatives, projects, and collaborations at European and International levels.

EURORDIS Open Academy courses on diagnosis

Course 3: Genetic research to clinical diagnosis of Rare Diseases
Duration: 3h45m

Introduction to genetics and genomics
Duration: 2h

Podcast episodes

EURORDIS Podcast: Rare on air

Screening at birth: The key to longer, healthier and better lives

Many people living with a rare disease and their families experience long, exhausting and disappointing journeys toward receiving a diagnosis on their condition. But what if the journey toward a diagnosis didn’t need to be so long?

Should more diseases be screened for at birth?

Host Julien Poulain returns to the topic of newborn screening for rare diseases, upon the completion of a recent EURORDIS Rare Barometer survey on the topic. The survey received more than 6,000 responses (including more than 5,500 responses in Europe) from across the global rare disease community about health systems practice of screening at birth for health conditions.

Latest Events

Find support & learn more

Patient and civil society organisations with a specific focus on undiagnosed
Undiagnosed Diseases Network International (UDNI)
Wilhelm Foundation
Undiagnosed Photo Project
Rare disease helplines


Additional resources
Infographic on the Patient Journey Through Diagnosis (available in 28 Langages)
Rare 2030 Knowledge Base Summary – Diagnostics
Next Steps Toolkit
ENSERio Study
A video on secondary findings from genome sequencing
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
Recommendations for whole genome sequencing in diagnostics for rare diseases
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
A toolkit for professionals on how to refer undiagnosed children to centres (in Dutch).

Contact person

Gulcin Gumus,
Research and Policy Project Senior Manager