Fox Lucy C, Goode Erin, Den Elzen Nicole, Cheng Lin, Barth Laura, Man Kelsey, Jarmolowicz Anna, Panjari Mary, Best Stephanie, Thursky Karin, James Paul, Bajel Ashish, Ritchie David, Blombery Piers
Clinical Haematology, Peter MacCallum Cancer Centre and Royal Melbourne Hospitals, Melbourne, Victoria, Australia.
Molecular Haematology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Intern Med J. 2025 Aug;55(8):1350-1359. doi: 10.1111/imj.70125. Epub 2025 Jul 1.
The bone marrow failure syndromes (BMFS) are clinically heterogeneous conditions with both inherited and acquired etiologies. Optimal care is often challenged by the complexity of these disorders and gaps in healthcare delivery. The Evaluating Multidisciplinary Bone maRrow fAilure CarE (EMBRACE) study is a multi-stage hybrid implementation-effectiveness study designed to explore the nature of issues faced by patients with BMFS and their physicians, and to develop, implement, and evaluate a comprehensive model of care.
To identify barriers to optimal BMFS care, we conducted semi-structured interviews with patients and patient advocates, followed by a nationwide survey of physicians involved in BMFS management. Thematic analysis was performed on interview data, and survey responses were analysed to identify common challenges and areas for improvement.
Interview themes elicited included: (i) limited disease-specific awareness and resources, (ii) challenges in attaining genetic care, (iii) the ongoing impact of complex care needs, (iv) the perceived value of genetic testing, and (v) the importance of specialised healthcare professionals. Physician surveys indicated a desire for affordable genomic testing, assistance with result interpretation and genetic counselling/cascade testing of extended kindred, a forum for complex case discussion and advice regarding management strategies. Responses from patients, advocates and physicians, along with existing best-practice guidelines, were then used to develop a 10-component model of care aimed at addressing identified issues.
The EMBRACE study has established a stakeholder-informed, multidisciplinary care framework for patients with BMFS. This care programme continues to undergo evaluation and audit consistent with principles of an implementation-effectiveness study to determine both patient and physician satisfaction, and iterative refinement to provide optimum care.
骨髓衰竭综合征（BMFS）是一类临床异质性疾病，病因包括遗传性和后天性。这些疾病的复杂性以及医疗服务中的差距常常给最佳治疗带来挑战。多学科评估骨髓衰竭护理（EMBRACE）研究是一项多阶段混合实施-效果研究，旨在探究BMFS患者及其医生所面临问题的本质，并制定、实施和评估一种全面的护理模式。
为确定最佳BMFS护理的障碍，我们对患者和患者权益倡导者进行了半结构化访谈，随后对参与BMFS管理的医生进行了全国性调查。对访谈数据进行了主题分析，并对调查回复进行了分析，以确定常见挑战和改进领域。
访谈得出的主题包括：（i）特定疾病认知和资源有限；（ii）获得基因护理面临的挑战；（iii）复杂护理需求的持续影响；（iv）基因检测的感知价值；（v）专业医疗保健专业人员的重要性。医生调查表明，他们希望获得负担得起的基因组检测、结果解读协助以及对扩展亲属进行基因咨询/级联检测，希望有一个复杂病例讨论论坛以及关于管理策略的建议。然后，综合患者、倡导者和医生的回复以及现有的最佳实践指南，制定了一个包含10个组成部分的护理模式，旨在解决已确定的问题。
EMBRACE研究为BMFS患者建立了一个由利益相关者提供信息的多学科护理框架。该护理计划继续按照实施-效果研究的原则进行评估和审核，以确定患者和医生的满意度，并进行迭代优化以提供最佳护理。
