Rare disease care pathways in the EU: from odysseys and labyrinths towards highways

Tumienė, Birutė; Graeßner, Holm

doi:10.1007/s12687-021-00520-9

Cited by 38 publications

(46 citation statements)

References 31 publications

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“…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. This is consistent with ndings 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.…”

Section: Discussionsupporting

confidence: 84%

“…For example, in Ireland, 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 (33). 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.…”

Section: Discussionmentioning

confidence: 99%

“…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 e ciency (33,36).…”

Section: Primary Carementioning

confidence: 99%

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Designing Rare Disease Care Pathways in the Republic of Ireland – A Co-operative Model

Ward

Murphy

Marron

et al. 2022

Preprint

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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 (HSCPs) 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.

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Primary Carementioning

confidence: 99%

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Designing Rare Disease Care Pathways in the Republic of Ireland – A Co-operative Model

Ward

Murphy

Marron

et al. 2022

Preprint

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“…The goal of our study was to define a model CP for MG. The development of CPs for rare diseases is strongly recommended in the literature, because for these conditions the knowledge is often scattered, and patients access to care and treatment could be heterogeneous and difficult [ 83 , 84 ]. Our experience demonstrated that the development of model CP for a rare disease is feasible and could be of help in integrating evidence-based knowledge into clinical practice.…”

Section: Discussionmentioning

confidence: 99%

Development of a Model Care Pathway for Myasthenia Gravis

Payedimarri

Ratti

Rescinito

et al. 2021

IJERPH

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Myasthenia Gravis (MG) is a chronic, life-lasting condition that requires high coordination among different professionals and disciplines. The diagnosis of MG is often delayed and sometimes misdiagnosed. The goal of the care pathway (CP) is to add value to healthcare reducing unnecessary variations. The quality of the care received by patients affected with MG could benefit from the use of CP. We conducted a study aimed to define an inclusive, comprehensive, and multidisciplinary CP for the diagnosis, treatment, and care of MG. The development of the model CP, key interventions, and process indicators is based on the literature review and 85 international MG experts were involved in their evaluation, expressing a judgment of relevance through the Delphi study. 60 activities are included in the model CP and evaluated by the MG experts were valid and feasible. The 60 activities were then translated into 14 key interventions and 24 process indicators. We believe that the developed model CP will help for MG patients to have a timely diagnosis and high-quality, accessible, and cost-effective treatments and care. We also believe that the development of model CPs for other rare diseases is feasible and could aid in the integration of evidence-based knowledge into clinical practice.

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“…Ensuring access to this expertise, training and education is complex. Many approaches with a major educational component have been adopted and led by genetic specialists, including online networks like Dyscerne (Douzgou et al, 2016b), expert resources for rare conditions, such as Orphanet (Aymé, 2003) and the educational programmes of the European Reference Networks (ERN; Tumiene and Graessner, 2021).…”

Section: Challenges To Delivering Genomic Educationmentioning

confidence: 99%

The Role of the European Society of Human Genetics in Delivering Genomic Education

et al. 2021

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The European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its implementation into clinical practice and the education of specialists and the public in all areas of medical and human genetics. The Society works to do this through many approaches, including educational sessions at the annual conference; training courses in general and specialist areas of genetics; an online resource of educational materials (EuroGEMS); and a mentorship scheme. The ESHG Education Committee is implementing new approaches to expand the reach of its educational activities and portfolio. With changes in technology, appreciation of the utility of genomics in healthcare and the public’s and patients’ increased awareness of the role of genomics, this review will summarise how the ESHG is adapting to deliver innovative educational activity.

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Rare disease care pathways in the EU: from odysseys and labyrinths towards highways

Cited by 38 publications

References 31 publications

Designing Rare Disease Care Pathways in the Republic of Ireland – A Co-operative Model

Designing Rare Disease Care Pathways in the Republic of Ireland – A Co-operative Model

Development of a Model Care Pathway for Myasthenia Gravis

The Role of the European Society of Human Genetics in Delivering Genomic Education

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