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The H-CARE project aims to develop a feedback mechanism that regularly and robustly measures the healthcare experience of people living with rare diseases, through the development and validation of Patient Reported Experience Measures (PREMs) for rare disease patients and carers. This measurement could be used as a tool to assess patient centricity of European Reference Networks, as part of Objective 8 of their Assessment, Monitoring, Evaluation, and Quality Improvement System (AMEQUIS).

Pilot survey (2020)

The goal of the H-CARE Survey is to develop a centralised patient feedback mechanism across the 8000+ rare and complex diseases, and across the 24 European Reference Networks. The pilot study was a first step that allowed to:

  • Agree on the dimensions of care that can be measured.
  • Test the possibilities to develop a scientifically validated questionnaire that captures patients’ experience with care for the over 8000 rare and complex diseases.
  • Understand how to best recruit patients and administer the survey across the 24 European Reference Networks and across countries: through social networks; through patient organisations; and on-site, in the care units of the hospitals where patients are treated.

The pilot survey was initiated by four European Reference Networks:

Literature review

We first conducted a systematic literature review that included more than 130 articles and 80 scientifically validated questionnaires.

As there is no existing scale to measure rare disease patients experience of healthcare, patient representatives and clinicians involved in this pilot have selected the scientifically validated questionnaire that best suited the requirements of this project: the Patient Assessment of Care for Chronic Conditions Short Form (PACIC-S). We adapted it to design two questionnaires:

• The Patient Assessment of Care for Rare and Complex Diseases
• The Carer Assessment of Care for Rare and Complex Diseases

To design these two questionnaires, we relied on 10 validated translations of the PACIC questionnaire (Danish, Dutch, English, Finnish, French, German, Italian, Lithuanian, Spanish, Slovakian) and we translated them into the 13 other languages of the Rare Barometer Program (Bulgarian, Czech, Greek, Croatian, Hungarian, Latvian, Norwegian, Polish, Portuguese, Romanian, Russian, Swedish, Slovenian).

Survey results

3905 respondents

65 countries

900+ diseases

23 languages

Based on over 3900 submissions received between December 2019 and March 2020, results of the H-CARE Pilot Survey show that people with rare diseases give their healthcare experience a medium-low rating [1], outline the major gaps in healthcare delivery and allow to provide recommendations for future reform.

According to the respondents, healthcare services for rare and complex conditions only occasionally consider key aspects, such as follow-up consultations and appropriate psychological and social support. The H-CARE survey findings indicate that there is still plenty of room for improvement and redesign of health and social services to meet the needs of people living with a rare or complex condition in Europe.

Moreover, the results show that patients living with a rare disease have a worse healthcare experience than other patients affected by chronic diseases. While both require multidisciplinary care and have broadly similar needs, patients with rare diseases seem to have a harder time accessing care that meets their needs.

Among the three priority areas for improvement, the respondents indicated the need for follow-up consultations, more orientation on resources and support, and psychological assistance. Timely follow-up is vital to ensure that the patient is aware of his or her diagnosis and moves forward with the prescribed treatment plan. Still to this day, many people living with a rare disease feel left alone with their concerns. Orienting patients towards community support groups, alongside adequate psychological and emotional help, emerges as a key factor in ensuring a better healthcare experience.

In order to support patients and carers, experts should also improve coordination with other doctors and provide recommendations to patients on how to manage the disease in their daily life, for instance by setting specific goals or developing disease management programmes.

The results of this survey confirm that there is still work to be done to improve the healthcare experience of people living with a rare or complex condition. From providing appropriate psychological support and ensuring better care coordination to signposting to support groups. We invite healthcare providers, clinicians and hospital managers, and health and social care authorities to analyse the results, extract lessons, and use them to inform future service redesign and policy interventions.

Inés Hernando, ERN and Healthcare Director

[1] H-CARE obtained the score for rare disease patients’ healthcare experience by combining answers to 11 questions related to follow-up after consultations, information on treatments, care coordination, and managing patients’ health in their daily lives.


Based on the survey responses, EURORDIS has outlined three recommendations to improve the healthcare experience of people living with a rare or complex condition:

1.    Going beyond diagnosis and medical treatment: increase focus on follow-up after consultations, psychological support, and healthcare aspects that allow patients to manage their health in their daily life.

2.    Ensuring access to multidisciplinary and networked health care: improve access to high-quality specialised care for people living with a rare or complex condition. This includes simplifying the national referral pathways to Centres of Expertise, facilitating timely access to in-person and virtual cross-border expert advice when such expertise is not available in their home country, and promoting knowledge sharing between Centres of Expertise and other healthcare providers.

3.    Developing and implementing a questionnaire to measure the healthcare experience of patients living with a rare disease and their caregivers: contribute to setting quality standards for health care in rare and complex conditions. Such a questionnaire would need to include dimensions specific to these conditions and be flexible enough to adapt to the diversity of situations and profiles of the people living with rare diseases.

The survey report identifies these recommendations, backed with evidence-based examples from across the region, to inspire policy makers and healthcare stakeholders at EU, national and local level as they seek ways to improve the quality of care delivered to people living with a rare or complex condition in Europe.

Contact person

Jessie Dubief,
Rare Barometer Programme Senior Manager

Jessie Dubief