A primary objective of this project was to develop an optimal process for the introduction of national RD care pathways into the Irish healthcare system in the absence of a commonly recognised best practice methodology. Consideration of such a broad range of conditions across 18 different ERNs enabled the identification of common components and roles and the development of a national Rare Diseases care pathway model template, which was a fundamental aspect of this study (see Fig. 4, in which the core template was used in relation to Amyotrophic Lateral Sclerosis as an example). The aim was to create an adaptable, interactive, and updatable model with the capacity to outline the coordinated interventions by multiple healthcare providers from pre-diagnosis across the entire life-long patient journey. The model can be flexible to allow for inclusion of specific delivery models where they exist and ensuring adaptability to evolving service configuration. For example, in Ireland, the interdisciplinary Children’s Disability Network Teams have recently been established, comprising over 20 HSCPs, to provide services and supports for children with complex disabilities. Care pathways can be mapped to their respective patient journeys to evaluate if holistic needs of the affected patient population are adequately addressed . Active engagement with health service managers involved in service design, at all stages of care pathway development, facilitates accurate alignment with national service delivery models.
Patient representatives emphasised the importance of a holistic approach to highly specialised care, with a key focus on access to psychosocial care. RD pathways can signpost patients to therapeutic interventions, psychological care and social services, thereby supporting patients and families to navigate education, employment and welfare supports. For example, in the DMD care pathway the medical social worker section details respite care to promote awareness of and access to these support services. This is consistent with findings from published surveys across the wider RD patient community which prioritise improved social inclusion, mental health and quality of life as a means to redress the detrimental impact on personal, professional and socioeconomic status experienced by so many people living with a RD [3, 7, 33]. Patient representatives attributed high value to HSCP and psychosocial roles. As many rare diseases start in childhood and do not yet have effective treatments, the need to optimise child development and function through therapeutic support was considered critical to optimising quality of life. Timely access to local community psychology services was prioritised by patients/service users at key points in the patient journey. Within the Irish healthcare landscape, provision of psychological interventions has tended to be limited to restricted scenarios and often hospital-based; however, psychology services are now provided in each of the 91 Children’s Disability Network Teams that provide community-based services throughout Ireland.
Gaps in adult services
Challenges in mapping adult Irish clinical experts for lifelong, childhood-onset neurodevelopmental conditions, such as NF1, 22q11 deletion syndrome and Angelman syndrome, revealed significant gaps in adult service provision due to a lack of clear transition pathways. Consequently, GPs are often left to coordinate ongoing management in an ad hoc manner . The lack of adult multidisciplinary care to address the complex medical and psychosocial needs of these patients is a primary concern for patients and carers, who often take on the role of care coordinator themselves . A focus on delivering adequate co-ordinated adult care for life-long neurodevelopmental conditions is required .
The role of general practice in the diagnosis, treatment and ongoing care of people with RDs and the need for better communication, more consistent coding nomenclature, shared electronic health records and enhanced education in primary care has been highlighted . In Ireland, the establishment of multidisciplinary primary care teams has been core to health policy since 2001 and their role in the care of patients with rare diseases is central [12, 17, 35]. Furthermore, the value of enhanced and seamless communication between specialist centres and primary care HCPs in managing patients with rare diseases is consistent with the integrated approach to healthcare delivery that is a core part of the Irish ‘Slaintecare’ reform programme .
National RD care pathways can address the self-reported gaps in primary care RD education by facilitating access to reliable RD resources; delineating the role of GPs in RD diagnosis and management; mapping local healthcare system organization for RDs including national CoEs; integrating ERNs for expert opinion and network care [11, 35]. They enable local care to be informed by the latest evidence base leading to improved patient outcomes and healthcare service efficiency [33, 36]. Further development of care pathways to include red flags for GPs, mapping of diagnostic testing services and local referral routes will ensure these gaps are bridged.
Patient involvement in the development of guidelines and pathways has been reported to enhance the relevance, practicality, and impact of care organised under these clinical support tools [25, 37]. Despite the highly heterogeneous nature of rare diseases, the project found through the active engagement of patient representatives, that people living with a rare disease face common needs and challenges. Of importance is the awareness of and access to healthcare professionals and services with sufficient knowledge of their rare condition. This confirms similar findings evidenced across the wider RD community . Whilst both patients and professionals have a shared goal, they can hold different but equally valuable perspectives. Building mutual respect for both perspectives on care decisions and service design is fundamental to aligning healthcare services on the needs of the patient locally . Notable barriers for meaningful patient-professional partnership are two-fold. Firstly, a perceptional barrier by clinicians who question the value of patient collaboration. However, overtime clinicians have been reported to develop a more positive view on patient involvement . Secondly, patients can question how they can best contribute to the development of guidelines and care pathways due to the use of complex medical terminology. These barriers can be overcome but time and tools are needed to support patient-professional partnerships. Patients’ insights are invaluable as they are ‘experts living with the condition’ and can provide a different perspective to that of clinicians [40, 41].
Patient involvement provides the weight of patients’ opinions and preferences of interventions and treatment, informed by the benefits and harms associated with treatments; empowering patients in decision making about their care; ensuring the holistic needs are understood and addressed . Recognition of patients as experts-by-experience with the capacity to co-design and lead in the development of patient-centred care is central and has been evidenced by the European Patient Advocacy Groups (ePAGs) in ERNs.
As Ireland is in the initial stages of ERN membership, ePAG membership is in early phase development. Although Ireland has an active rare disease patient organisation base, the population size of 5 million means that many rare diseases do not have an Irish patient organisation. Our study found that involving ‘Rare Diseases Ireland’ (RDI) as key facilitators was effective in mapping patient representative and supporting their contribution. For several conditions, where no specific Irish patient organisation exists, clinical leads were asked to nominate an appropriate patient representative. ‘RDI’ worked to support these individuals and also liaised with relevant UK support groups to identify possible additional Irish patient representatives, as on occasion Irish patients join UK support groups where no group is available in Ireland.
Provision of genetic services
Over 70% of RDs have a significant genetic basis . Also, for RDs with a non-genetic basis there can be significant heritability, indicating the likelihood of genetic susceptibility and/or rare genetic sub forms. Genetic counselling was considered a core discipline for most of the pathways. As the clinical genomics landscape evolves due to improving diagnostic methods and treatments, care pathways need to be flexible to adapt . The genetic counselling profession is uniquely placed to support these transitions in best practice and to ensure that ethical principles are followed that consider the implications for patients and their extended family members. As genomics promises to deliver powerful diagnostic solutions, national clinical genetic services struggle to absorb increased demand . Mainstreaming of genetic testing is the inevitable consequence. However, the inherent risks of misinterpretation of complex genomic data are evident even for HCPs with formal clinical genetics training and extensive genomic experience . Clinical Geneticists and Genetic Counsellors have a central role in education of non-Genetics HCPs to promote the safe delivery of genomic medicine .
Inclusion of database managers for registry development and curation was deemed a core requirement in line with ERN priorities. Registries are recognised as an invaluable resource for capturing epidemiological disease information and natural history, identifying patient cohorts available for clinical research, assessing therapeutic outcomes, generating evidence and monitoring CoEs for disease-specific key performance indicators that can be used to gauge ERN activity and impact. Centralised registry development to ensure data interoperability and uniform database structure is essential for integration into the ERN IT system . The use of Orphacodes within our care pathways promotes aligned codification with ERN RD registries, which are committed to Orphacode designation as a key parameter, and implementation of the EC eHealth Network Guideline on the electronic exchange of health data under the Cross Border Directive 2011/24/EU .
Accessibility and dissemination
The ability to recognise RDs at initial points of contact with patients is a significant challenge . Support is also required for primary and secondary care HCPs to ensure safe patient management while patients wait to access specialist tertiary services. Ready access to care pathways at key points of contact across frontline clinical services is critical to maximise their utility. To facilitate this, it is envisaged in our programme that the care pathways will be hosted on a dedicated website which will be accessible through the National Rare Disease Office, Irish Health Service Executive, Orphanet, relevant ERN and national professional and patient organisation websites. This aligns with physicians’ preferences for professionally endorsed channels for accurate RD information dissemination via expert centres and professional associations . The positive level of patient engagement in this study augurs well for co-promotion and effective dissemination of care pathways within the RD patient community via patient organisation networks.
By providing access to national care pathways via a dedicated website, the interactive capacity of the pathways can be fully realized. Future work will focus on the development of patient-friendly versions and tools to enhance patient access by building on these interactive features. The ‘Rare 2030’ recommendations promote enhanced visibility of best practice guidelines and the importance of accessibility for patients by including a patient ‘lay’ summary that should be co-designed and developed with patient and service users .
Centralised, updatable versions of each care pathway will facilitate easy access to the latest guidelines by multiple disciplines across different locations which aligns with the ERN eHealth goal of ensuring the availability of up-to-date information . It is proposed that regular future audit by Clinical Leads and Patient Representatives will ensure that new evidence emerging around diagnostics, management and treatment will be captured.
The impact of developing aspirational care pathways, with a significant number that are not implemented to date, was noted by patient representatives and HCPs as a concern. Clinical leads have assessed and detailed the staff resources and linked services required to deliver the level of care outlined in each pathway. This will enable advocacy for commissioning. Significant barriers to successful implementation within local and national services exist with pressures on healthcare systems and demands on clinical time. This study also shows that care pathway development is a time intensive activity requiring dedicated funding to ensure sustainability.
Limitations of the study
Our methodology aligns with that of the RarERN Path as a framework for collaboration with national clinical experts and patient representatives . However, cost analysis of current and proposed care pathways was not within the scope of this study. Detailing of each care pathway by each discipline involved in care would be optimum. However, a pragmatic approach was taken in this study by selecting the most relevant professionals in the specific care pathway.
To ensure alignment with national healthcare strategies and effective implementation, further engagement with key national health service stakeholders including primary care, integrated care, digital E-health and disability services is ongoing. Further HSCP professional engagement will focus on the key roles identified across pathways to ensure their accurate representation.
The next steps include piloting of individual pathways with follow-up evaluation and revisions for further optimisation. The evaluation will involve benchmarking against the HSE Model of Care for Rare Diseases, which will no doubt highlight barriers to implementation and gaps in service provision such as the lack of adult services for neurodevelopmental conditions . Development of clear transition pathways for all care pathways where the condition has a possible childhood onset will be a priority. Transition planning is detailed within the Nurse specialist role. For certain conditions such as PKU where the numbers of patients transitioning to adult services is significant, the care pathway specifies that a transition coordinator is a key role.
The improved efficiencies of these pathways through shortening the diagnostic journey, enhancing access to appropriate management and intervention and improved patient outcomes, will be require confirmation.
The goal of the project was development of a RD care pathway model and methodology. This will be used as a template for future care pathway progression for further rare diseases, rare disease groups and ultra-rare conditions, a number of which have commenced.
The development of a generic care pathway for undiagnosed RD patients may be beneficial but was outside the scope of this project. Such a pathway aligns with the current Irish national disability service development ‘needs-based’ strategy, the development of national clinical genetics/genomic services and the ‘European Joint Programme on Rare Diseases’ research initiatives.
Rare 2030 recommendations
The ‘Rare 2030 Foresight’ study emphasises the full development and implementation of national RD plans as a primary recommendation with the development of care pathways as key component . Specifically, digital care pathways can facilitate the collection and evaluation of patient data, by auditing the outcomes and further developing interventions within each pathway based on outcomes. This equips frontline clinical services to deliver more cost-effective evidence-based medicine and personalised care leading to better patient outcomes. Furthermore, digital care pathways have the potential to accelerate the development and uptake of RD treatment options by facilitating European-wide clinical trials and research. National care pathway development can promote care co-ordination between HCPs, improve access to specialists and enhance treatment opportunities as highlighted as the top three highest unmet needs by the RD community to be addressed by 2030 .