Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Abstract

Background Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways. Methods and objectives This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based clinical practice guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions. Results 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs. Conclusions This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.

The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland

“…An adult 22q clinic may also help to further reduce fragmented medical care experienced by the adults with 22q11DS, where participants describe a decline in the quality of care. This is supported by recent findings by Ward et al (2022) reporting significant gaps in healthcare services for adults with 22q11DS due to a lack of transition care pathways. The findings also emphasized a need for children with 22q11DS to be encouraged to develop a good relationship with their GP as they enter their teen years, to help with the transition to adult care and be empowered as young adults.…”

“…Participants in the current study reported becoming the experts about their child's condition due to non‐genetics HCPs having little understanding of 22q11DS, which is well‐documented in wider rare disease research (Budych et al, 2012; Ward et al, 2022). The findings suggest an association between HCPs' low awareness of 22q11DS with participants' perceived lack of empathy from HCPs.…”

“…It is widely acknowledged that families receiving diagnoses of rare diseases for their children should have timely access to genetic counseling (Greenhalgh et al, 2003; Zurynski et al, 2017). Genetic counseling is considered to be a core requirement for care pathways for rare diseases in Ireland (Ward et al, 2022). Ireland has a particularly small number of GCs in comparison to European countries of similar population (Abacan et al, 2019), which hinders timely access for families.…”

“…It is widely acknowledged that families receiving diagnoses of rare diseases for their children should have timely access to genetic counseling (Greenhalgh et al, 2003;Zurynski et al, 2017). Genetic counseling is considered to be a core requirement for care pathways for rare diseases in Ireland (Ward et al, 2022). Ireland has a partic- of data spanning a range of approximately 21 years during which diagnoses were received, the wide range of ages of the child at diagnosis and the different medical specialties that delivered the diagnoses (see Table 1).…”

“…It is recommended that families and individuals with a diagnosis of 22q11DS are offered genetic counseling (Driscoll et al, 1993; Greenhalgh et al, 2003; Liu et al, 2000; Ward et al, 2022). A study examining the experiences of families receiving a diagnosis of 22q11DS with a focus on genetic counseling has not previously been carried out in the Irish context.…”