Rare Diseases

Castro, Raquel; Senecat, Juliette; Chalendar, Myriam de; Vajda, Ildikó; Breukelen, S. van; Montefusco, Maria; Nielsen, Stephanie Jøker; Dan, Dorica

doi:10.1007/978-3-319-56103-5_25

Cited by 2 publications

(2 citation statements)

References 10 publications

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“…People with rare diseases may access care pathways through multiple entry points in primary and secondary care, with significant risk of fragmentation of care [8,44] . Lack of awareness of a given rare disease due to low prevalence may contribute to this fragmentation.…”

Section: Fragmentation Of Healthcarementioning

confidence: 99%

Future Care Pathways – A report from the 1st workshop of the EHC Think Tank Workstream on Future Care Pathways

Skouw-Rasmussen,

Savini

2023

The Journal of Haemophilia Practice

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Introduction A care pathway is defined as “a complex intervention for the mutual decision-making and organisation of care processes for a well-defined group of patients during a well-defined period.” The European Haemophilia Consortium (EHC) established a Think Tank Workstream on Future Care Pathways to identify and address key challenges in shaping future pathways that meet the needs of people with rare diseases while remaining practicable and affordable to healthcare providers in countries with different budgets and resources. This workstream is particularly timely as the introduction of innovative therapies is adding to the complexity of care pathways in some rare conditions. Identifying key challenges During the first virtual workshop of the Future Care Pathways Workstream on 14 February 2023, stakeholders, including healthcare providers, patient groups, researchers, and industry representatives, agreed to focus on four workable themes/challenges: 1. Prioritisation (cost and evidence); 2. Agreeing on a baseline; 3. Digital health; 4. Fragmentation of healthcare. Summary Prioritisation relates to economic and financial challenges in justifying the optimisation of a care pathway for a rare disease within the context of other healthcare priorities. Currently, there is too much emphasis on costs to healthcare systems, and not enough on real-life patient experience and indirect costs to patients and their families. Innovation in pathways is generally considered unaffordable, and cost-effectiveness models are difficult to apply to rare diseases. Agreeing on a baseline for a minimum standard of care in a pathway should take into account variability in patient needs, agency and healthcare system resources. A baseline needs to be agreed upon for each stage of a pathway: first clinical presentation, diagnosis, treatment, and monitoring and follow-up. Lack of awareness, gender and resource inequalities and gaps in evidence are among the issues that need to be addressed. Digital health holds promise but also brings challenges for future care pathways and must be considered from the viewpoint of all major stakeholders: patients, healthcare providers, tech companies and payers. Digital health systems are often developed in silos and do not allow for effective integration and sharing of data. Collaboration from the beginning is essential to the successful integration of digital tool as in healthcare. Fragmentation of healthcare can arise because people with rare diseases may access care pathways through multiple entry points in primary and secondary care, and they may not experience holistic care that takes account of all their needs. Poor communication at multiple levels (e.g. between clinical stakeholders and between clinicians and patients) is a common problem leading to inadequate treatment and care. Fragmentation may also arise when care pathways do not allow for a patient’s evolving needs when he/she is already on a pathway.

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Section: Fragmentation Of Healthcarementioning

confidence: 99%

Future Care Pathways – A report from the 1st workshop of the EHC Think Tank Workstream on Future Care Pathways

Skouw-Rasmussen,

Savini

2023

The Journal of Haemophilia Practice

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“…The latter is particularly important, as the Council Recommendation of 2009 specified that national plans and strategies should structure activities “within the framework of health and social systems”, and thus it would be logical to include representatives of not only ministries of health but also of social affairs, welfare, labour, employment, etc., to facilitate the requisite integration. It is acknowledged that rare disease populations are especially vulnerable and patients and families can face significant challenges in all aspects of life, in view of the rarity of the condition (EURORDIS 2017 ; EUCERD JA 2012): this necessitates specific measures to support people not only in obtaining more integrated and coordinated medical care but also to ensure a person-centred approach to care within a continuum, encompassing also the social, educational, and employment spheres (Castro et al 2017 ; EURORDIS 2019 ).…”

Section: Establishing the Status Quo Around National Plans And Strategiesmentioning

confidence: 99%

Shaping national plans and strategies for rare diseases in Europe: past, present, and future

et al. 2021

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Addressing the many challenges posed by rare diseases to patients, families, and society at large demands a specific national (as well as transnational) focus. Historically, the practice of elaborating and adopting national plans and strategies for rare diseases, following a request from the European Commission in 2009, has been an essential means of ensuring this focus, with 25 European Member States having adopted a plan or strategy at some stage. However, from the vantage point of late 2020, there are signs that momentum and commitment to the development, implementation, and renewal of national plans is waning, in some cases. In this article, we examine the status quo and explore the trend for national plans and strategies to expire without clear commitments or timelines for replacement. We also examine the factors and institutions which supported the initial drive towards the adoption of national plans and strategies in Europe and consider the very different climate in which the next generation of national policies may—or may not—be shaped.

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Rare Diseases

Cited by 2 publications

References 10 publications

Future Care Pathways – A report from the 1st workshop of the EHC Think Tank Workstream on Future Care Pathways

Future Care Pathways – A report from the 1st workshop of the EHC Think Tank Workstream on Future Care Pathways

Shaping national plans and strategies for rare diseases in Europe: past, present, and future

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