European Reference Network for rare, low prevalence, or complex diseases of the heart (ERN GUARD-Heart): 5 year anniversary

In March 2022, it is 5 years ago that, based on the 2011 Directive of the European Parliament and the Council on Patient’s Rights in Cross-border Healthcare,1 and with support of the European Union’s Health Programme (2014–20), 24 European Reference Networks (ERNs) were established. European Reference Networks are virtual networks involving healthcare providers (HCPs) across Europe. They aim to tackle rare, low-prevalence, or complex diseases, and conditions that require highly specialized management and a concentration of knowledge and resources. European Reference Networks are organized into 24 different themes, which have been agreed upon by an expert group on rare diseases (appointed by the European Commission) and representatives of European rare disease patient organizations united together in a non-governmental patient-driven alliance (EURORDIS-Rare Diseases Europe). Cardiovascular diseases have been covered in one ERN for cardiac diseases (ERN GUARD-Heart) and one for vascular diseases (VASCERN).2 Between 5000 and 8000 rare diseases affect the daily lives of around 30 million people in the European Union (EU). Many of them are facing multiple challenges and do not have readily access to diagnosis or high-quality treatment options. The ultimate goal of all ERNs is to offer patients and doctors across the EU access to the best expertise and timely exchange of life-saving knowledge, without having to travel to another country. At their inception, ERNs comprised more than 300 hospitals and 900 healthcare units. In September 2019, the European Commission launched a call for new members to join existing the ERNs. After undergoing an extensive assessment process, in which national authorities, independent assessment bodies appointed by the European Commission, and the ERNs were involved, the applicants with a positive final assessment were able to join the existing ERNs officially on 1 January 2022. The mission of ERN GUARD-Heart (gateway to uncommon and rare diseases of the heart) is to guarantee easy access to highly specialized diagnostic and therapeutic options for rare, low-prevalence, and complex cardiac diseases in both adult and paediatric patients across the EU. In the first years of its existence, the ERN has focussed on three thematic areas: familial electrical diseases, familial cardiomyopathies, and several specific electrophysiology procedures in children. As anticipated at its set-up in 2017, since 1 January 2022, the ERN has extended its focus to congenital heart diseases and other rare conditions (e.g. myocarditis, pericarditis, sarcoidosis, amyloidosis, and cardiac tumours). The overarching goals of ERN GUARD-Heart include: Consolidate and extend the ERN Concentrate knowledge and expertise to improve clinical practice Improve quality and safety of healthcare services Guarantee accessibility to healthcare for all European patients with rare cardiac diseases Promote research and innovation both in the diagnosis and treatment of these patients Put the patient and their family in the centre of healthcare services Foster transparency in the delivery of care through a global communication strategy Initially, ERN GUARD-Heart consisted of 24 members (HCPs) from 12 EU Member States [Belgium, Czech Republic, Denmark, Finland, France, Germany, Italy, The Netherlands, Romania, Spain, Sweden, and the United Kingdom (UK)]. Following the withdrawal of the UK from the EU, membership of 3 HCPs from the UK had to be terminated on 31 December 2020. On the other hand, following the approval of new members on 1 January 2022, the ERN has been able to welcome 23 HCPs from 16 Member States (including 5 Member States that were not yet represented: Croatia, Hungary, Ireland, Poland, and Portugal) (Figure 1). Member healthcare providers in the ERN GUARD-Heart. Left panel: geographical coverage of the ERN GUARD-Heart. The number in boxes indicates the number of member healthcare providers or the numbers of affiliated partners of the ERN GUARD-Heart (see text for details) per Member State of the European Union. AT, Austria; BE, Belgium; CZ, Czech Republic; DE, Germany; DK, Denmark; EE, Estonia; ES, Spain; FI, Finland; FR, France; HR, Croatia; HU, Hungary; IE, Ireland; IT, Italy; LT, Lithuania; LU, Luxembourg; MT, Malta; NL, The Netherlands; PL, Poland; PT, Portugal; RO, Romania; SE, Sweden; SI, Slovenia; SK, Slovakia. Right panel: list of member healthcare providers in the ERN GUARD-Heart with their thematic area expertise. Thematic areas are: 1. Familial electrical diseases in adults and children; 2. Familial cardiomyopathies in adults and children; 3. Specific electrophysiology procedures in children; 4. Congenital heart diseases in adults and children; 5. Other rare cardiac diseases. Numbers in red indicate that the thematic area expertise for this member has been approved by the Board of the ERN GUARD-Heart, but has yet to be confirmed by the Board of Member States; this is because the timeline for the assessment of the existing ERN GUARD-Heart members by the Board of Member States and the European Commission has been different than for the new members who have entered the European Reference Network in 2022. * Thematic area 4 for the Amsterdam University Medical Centers is a collaboration with the Leiden University Medical Centers, and is called ‘CAHAL, Center for Congenital Heart Disease Amsterdam-Leiden’.3 Member healthcare providers in the ERN GUARD-Heart. Left panel: geographical coverage of the ERN GUARD-Heart. The number in boxes indicates the number of member healthcare providers or the numbers of affiliated partners of the ERN GUARD-Heart (see text for details) per Member State of the European Union. AT, Austria; BE, Belgium; CZ, Czech Republic; DE, Germany; DK, Denmark; EE, Estonia; ES, Spain; FI, Finland; FR, France; HR, Croatia; HU, Hungary; IE, Ireland; IT, Italy; LT, Lithuania; LU, Luxembourg; MT, Malta; NL, The Netherlands; PL, Poland; PT, Portugal; RO, Romania; SE, Sweden; SI, Slovenia; SK, Slovakia. Right panel: list of member healthcare providers in the ERN GUARD-Heart with their thematic area expertise. Thematic areas are: 1. Familial electrical diseases in adults and children; 2. Familial cardiomyopathies in adults and children; 3. Specific electrophysiology procedures in children; 4. Congenital heart diseases in adults and children; 5. Other rare cardiac diseases. Numbers in red indicate that the thematic area expertise for this member has been approved by the Board of the ERN GUARD-Heart, but has yet to be confirmed by the Board of Member States; this is because the timeline for the assessment of the existing ERN GUARD-Heart members by the Board of Member States and the European Commission has been different than for the new members who have entered the European Reference Network in 2022. * Thematic area 4 for the Amsterdam University Medical Centers is a collaboration with the Leiden University Medical Centers, and is called ‘CAHAL, Center for Congenital Heart Disease Amsterdam-Leiden’.3 Rules set by the European Commission dictate that in order to participate as an ERN member, each HCP has to be recognized as a centre of excellence by its national authority and has to fulfil two sets of criteria:4 A set of general criteria, defined by the European Commission, which are common to all HCPs regardless of their area of expertise: Organization and management, Patient empowerment and patient-centred care, Research, education, and training, Expertise, information systems, and e-health tools, Quality and safety, and a set of specific criteria with regard to the diseases covered by the ERN Competence, experience, and outcome of care, Human resources (availability and qualifications of healthcare professionals), Organization of patient care (including the composition of multidisciplinary teams), Facilities and equipment (specific to the area of expertise of the ERN). Specific criteria have been defined by individual ERNs and are based on available guidelines and expert consensus recommendations. All members of ERN GUARD-Heart have adapted the requirements in the general and specific criteria. Importantly, to guarantee access to expert advice also for patients and doctors living in the EU Member States with no ERN member, official collaborations have been set with nine so-called affiliated partners (Figure 1). These are centres with at least some expertise matching the thematic focus of ERN GUARD-Heart and which concentrate primarily on the provision of care. Hereby, these centres can act as an entry point to the ERN for patients, without fulfilling the complete requirements of an ERN member. The ERN GUARD-Heart has been organized in different key components (Figure 2). The ERN Board is the main management, legal, and financial decision-making body. It is chaired by the ERN coordinator and composed of representatives of each member HCP and two patient representatives. The Patient Advocacy Board is responsible for bringing the voice of patients and their families to the Board and supports the ERN activities on patient engagement, patient education, and external communication. The Steering Committee is an executive body in charge of implementing the decisions of the Board and the thematic area groups. Thematic area groups are responsible for conducting activities focussed on specific groups of diseases. The Healthcare Evaluation Body supports the level of quality assurance in the ERN, while the Project Management Office supports the ERN in administrative and organizational tasks. The organizational structure of ERN GUARD-Heart. See text for the description of the tasks and the responsibilities of the different components of the ERN GUARD-Heart organization. The organizational structure of ERN GUARD-Heart. See text for the description of the tasks and the responsibilities of the different components of the ERN GUARD-Heart organization. A detailed description of activities is available on the website of the ERN GUARD-Heart and in its bimonthly newsletter.5 Next to project management activities, other main ERN activities involve provision of care, education/training, patient registries and research, and monitoring. To facilitate access to highly specialized care, the Clinical Patient Management System (CPMS), a secure online platform for patient referral and consultation, has been implemented. Using CPMS, HCPs from both inside and outside the ERN can ask advice for their patients from expert multidisciplinary teams. In addition, patient-reported outcome measures are being developed to establish patient-centred care. Transfer of knowledge to early career professionals has been effectuated through scientific conferences, academic exchange programmes, and free-access online didactic videos. To educate patients and their families, patient folders for several rare cardiac diseases have been generated and translated into different European languages, and numerous (often periodic) regional or national educational meetings have been organized. With regard to knowledge generation and research, ERN members have collaborated in numerous research projects, which have resulted in more than 50 peer-reviewed scientific articles. Moreover, with the support of the ERN, several disease-specific registries and an overarching patient registry have been established. Data from these registries have been used for several scientific publications. Finally, a continuous monitoring and quality improvement system is in place to safeguard the optimal performance of the ERN and its members. The system incorporates a set of core indicators (structure, process, and outcome) common to all ERNs and a set of indicators specific for ERN GUARD-Heart (as described in its multiannual programme). Data from individual HCPs are collected every 6 months and used to assess their performance and compliance. Non-compliance to key indicators in the monitoring system may be a reason for the termination of ERN membership. With support from the European Union’s Health Programme (EU4Health 2021–2027), ERN GUARD-Heart will continue its efforts to facilitate full access to highly specialized and evidence-based healthcare for all patients with rare and complex cardiac diseases, to promote research and innovation in the management of these diseases, to transfer knowledge to the next generation of experts in the field, and to bring patients and their families to the centre of healthcare services through better education and integration of the patient voice into healthcare policy and shared decision making. We acknowledge Dr Nynke Hofman, the project manager of the ERN GUARD-Heart, for her support in the preparation and submission of this manuscript. Conflict of interest: A.S.A. is involved in the management of the ERN GUARD-Heart. R.B. is the current chair of the Patient Advocacy Group of the ERN GUARD-Heart. P.C. is the leader of the thematic area group ‘familial cardiomyopathies’ and member of the Steering Committee of the ERN GUARD-Heart. A.A.M.W. is the coordinator of the ERN GUARD-Heart.