Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.
Genetic Alliance UK, Creative Works, 7 Blackhorse Lane, London, E17 6DS, UK.
Orphanet J Rare Dis. 2023 Nov 23;18(1):364. doi: 10.1186/s13023-023-02934-9.
Poorly coordinated care can have major impacts on patients and families affected by rare conditions, with negative physical health, psychosocial and financial consequences. This study aimed to understand how care is coordinated for rare diseases in the United Kingdom.
We undertook a national survey in the UK involving 760 adults affected by rare diseases, 446 parents/carers of people affected by rare diseases, and 251 healthcare professionals who care for people affected by rare diseases.
Findings suggested that a wide range of patients, parents and carers do not have coordinated care. For example, few participants reported having a care coordinator (12% patients, 14% parents/carers), attending a specialist centre (32% patients, 33% parents/carers) or having a care plan (10% patients, 44% parents/carers). A very small number of patients (2%) and parents/carers (5%) had access to all three-a care coordinator, specialist centre and care plan. Fifty four percent of patients and 33% of parents/carers reported access to none of these. On the other hand, a higher proportion of healthcare professionals reported that families with rare conditions had access to care coordinators (35%), specialist centres (60%) and care plans (40%).
Care for families with rare conditions is generally not well coordinated in the UK, with findings indicating limited access to care coordinators, specialist centres and care plans. Better understanding of these issues can inform how care coordination might be improved and embrace the needs and preferences of patients and families affected by rare conditions.
协调不良的医疗护理会对患有罕见病的患者及其家庭产生重大影响，导致其身心健康受损、心理社会压力增加和经济负担加重。本研究旨在了解英国是如何协调罕见病护理的。
我们在英国开展了一项全国性调查，涉及 760 名患有罕见病的成年人、446 名照顾罕见病患者的父母/照顾者以及 251 名照顾罕见病患者的医疗保健专业人员。
研究结果表明，许多患者、父母和照顾者的护理缺乏协调。例如，只有少数参与者报告有护理协调员（12%的患者、14%的父母/照顾者）、就诊于专科中心（32%的患者、33%的父母/照顾者）或有护理计划（10%的患者、44%的父母/照顾者）。只有极少数患者（2%）和父母/照顾者（5%）能够获得所有三项服务——护理协调员、专科中心和护理计划。54%的患者和 33%的父母/照顾者表示无法获得这些服务中的任何一项。另一方面，有更高比例的医疗保健专业人员报告称，有罕见病的家庭能够获得护理协调员（35%）、专科中心（60%）和护理计划（40%）。
在英国，对罕见病患者家庭的护理通常缺乏协调，调查结果表明，患者获得护理协调员、专科中心和护理计划的机会有限。更好地了解这些问题可以为如何改善护理协调提供信息，并满足受罕见病影响的患者及其家庭的需求和偏好。
