Clinical practice guidelines adherence, knowledge and awareness in rare and complex connective tissue diseases across Europe: results from the first ERN ReCONNET survey

INTRODUCTION

Around 5000–8000 rare diseases affect the daily lives of approximately 30 million people in Europe. Many of those affected by a rare condition have limited access to diagnosis and high-quality treatment. Unfortunately, expertise and specialist knowledge may be scarce because patient numbers are low and improving the evidence by pooling data can be a challenge.

In order to address these challenges, the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The aim of the ERNs is to tackle complex or rare diseases and conditions that require highly specialised treatment and a concentration of knowledge and resources. It is well known that no country alone has the knowledge and capacity to treat all rare and complex diseases, and exactly for this reason, ERNs were established as European infrastructures. ERNs offer, in fact, the potential to give patients and clinicians across the EU access to the best expertise and timely exchange of life-saving knowledge, making knowledge accessible to all patients, even when living in remote areas.¹

Since their launch in 2017 in Vilnius,² 24 ERNs are currently working on a range of thematic issues, including rare connective tissue diseases, bone disorders, childhood cancer, metabolic disorders immunodeficiency and many others.

The ERN ReCONNET³ is 1 of the 24 approved ERNs aiming at improving the management of rare and complex connective tissue and musculoskeletal diseases (rCTDs) across the EU. The ERN ReCONNET currently involves 26 full member HCPs from 8 different EU countries: Belgium, France, Germany, Italy, Netherlands, Portugal, Romania and Slovenia and 14 affiliated partners (APs) from additional 11 countries (figure 1). The network, co-ordinated by the Azienda Ospedaliero Universitaria Pisana in Italy, covers the following 10 rCTDs: antiphospholipid syndrome (APS), Ehlers-Danlos syndrome (EDS), idiopathic inflammatory myopathies (IIM), IgG4-related disease (IgG4), mixed connective tissue disease (MCTD), relapsing polychondritis (RP),€’s syndrome (SS), systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and undifferentiated connective tissue disease (UCTD).

Full members HCPs are HCPs that have been identified as members of the ERN following the process of membership regulated by the Commission Delegated Decision of 10 March 2014 and the Commission Implementing Decision of 10 March 2014. APs) are HCPs belonging to member states that do not have representation from a full member within an ERN; APs are designated by their member states and can actively participate and contribute to the ERN activities. Other important components of the ERN ReCONNET are the external experts (individual clinician or healthcare professional with an expertise in the field of rCTDs that are approved by the ERN ReCONNET Steering Committee to participate in specific activities of the ERN) and the members of the ERN ReCONNET External Scientific Advisory Board (ESAB—experts considered relevant to the work and mission of the ERN, such as health economists, methodologists, policy-makers, etc). In addition, the ERN ReCONNET involves and engages with patients’ organisations, thanks to ERN ReCONNET European Patients Advocacy Group (ePAG). The role of ePAGs is particularly important since they represent the voice of patients in all the activities of the ERN. All the activities and the stakeholders involved in the network are co-ordinated by the ERN ReCONNET Co-ordination Team, which involves the co-ordinator, project managers and expert rheumatologist acting also as methodologist.

Clinical practice guidelines (CPGs) serve as an equaliser in the field of rare diseases. Their application can have a high impact on the care of the patient and their usage highlights the difference between substandard care and patients living longer, healthier lives with fewer complications.^4–9 Guidelines, whether designed to support correct and early diagnosis or to guide appropriate care, can serve as a blueprint of excellence, bringing clinicians and healthcare professionals closer to the patients on how to treat them, reflecting the best possible knowledge and generating the best achievable outcomes. As mentioned in the Commission Delegated Decision of 10 March 2014, ERNs should (among other important activities) develop and implement clinical guidelines supporting the existing scientific societies in the process. For these reasons, ERN ReCONNET can play a crucial role in the implementation of CPGs for rCTDs, providing valid tools towards the harmonisation of the management of rCTDs throughout Europe while improving effectiveness and quality of care delivered to patients.

In this setting, during the first year of activity of the ERN ReCONNET, two anonymous surveys were created to map the adherence to rCTDs CPGs among HCPs members and to assess the knowledge and awareness of CPGs for their diseases among patients/family members/caregivers. Therefore, we will provide the results of the two surveys.

METHODS

Of the two surveys developed, the first ‘ERN-ReCONNET survey on the use of clinical practice guidelines for HCPs’ was dedicated to healthcare professionals and the second ‘ERN ReCONNET survey on clinical practice guidelines knowledge and awareness in rare and complex connective tissue disorder patients, families and caregivers’ was dedicated to patients, caregivers and family members.

RESULTS

DISCUSSION

The results of these surveys provide a first picture of the level of awareness as well as a first overview of the level of adherence to CPGs in rare and complex musculoskeletal and connective tissue diseases. Considering the critical impact that guidelines have in the care provided to patients, it is crucial that a network of expertise on rare diseases takes a snapshot of what clinicians and patients think about CPGs. The main message from the HCPs is that using well-constructed CPGs surely improves patient care. Well-constructed and valid CPGs exist for some rCTDs, but others have very few or no CPGs available, and in fact, this was also reflected in the variability of the responses. A large part of the enquired HCPs uses CPGs in routine clinical practice; however, some difficulties and barriers still exist, and they are mainly caused by local legislative restrictions and time constraints during the assessment of patients. Many proposals have been suggested to implement the application of CPGs, mainly related to (i) having easier and more practical versions of existing CPGs (such as phone and/or computer applications or an online platform), (ii) increasing knowledge and education for both patients and professionals on CPGs, (iii) having more dedicated time during the routine clinical assessment and (iv) having government support and reduce any local legislative restrictions.

The voices of patients, family members and caregivers underlined that CPGs should be more widely disseminated and adapted to the different health systems in Europe in order to improve the level of care provided to patients. CPGs are generally perceived positively, but it is evident that more effort should be dedicated to the inclusion of patients in the development of CPGs. The expectations of respondents on CPGs were focused on the great benefit that CPGs scan induce on the management of diseases, especially if the patient is affected by a rare disease. Respondents also emphasised that patient-friendly versions of CPGs and patients’ lifestyle guidelines could play a relevant role in the process of empowering patients in the management of their disease and to support shared decision with healthcare professionals. The results obtained in this survey will enable ERN ReCONNET to plan initiatives related to patients’ empowerment and CPGs, such as the creation of patient-friendly version of CPGs and patients’ lifestyle guidelines.

Since ERN ReCONNET aims at improving the level of adherence to CPGs across European HCPs, by providing practical tools and training to healthcare professionals, many of the initiatives emerging from this survey are being realised under the scope of the ERN ReCONNET, following the suggestions, expectations and points of view of the member HCPs and ePAGs. The ERN ReCONNET has already reviewed the landscape of the existing CPGs in rCTDs^10–19 and the existence of partially sufficient CPGs for some rCTDs was highlighted, while demonstrating the absence of evidence-based CPGs for other rCTDs.^10–19 Among the different unmet needs on CPGs, the results raised the issue that more attention should be devoted to the assessment of CPGs adherence in routine clinical practice. In accordance, the ERN ReCONNET aims at identifying strategies to improve the dissemination and implementation of CPGs throughout Europe. Other activities are also ongoing under the scope of the ERN ReCONNET, both to produce the evidence needed to create new CPGs, and to adapt existing CPGs to the different geographical and cultural European contexts and to fulfil the unmet needs and gaps emerged from the survey.

CONCLUSIONS

Well-constructed CPGs improve patient care, but some difficulties and barriers still exist in their implementation in daily clinical activities. Thanks to the engagement of the most relevant stakeholders involved in rCTDs, the ERN ReCONNET is promoting practical actions for the local adaptation of CPGs across Europe, improving their routine clinical use and contributing to the increase of the awareness on CPG across rCTDs patients, family members and caregivers.