Design, implementation and evaluation of a model of care for patients with germline predisposition to haematological malignancy and bone marrow failure syndromes.

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.