• Cheng, Lin
• Fox, Lucy C.
• Elzen, Nicole Den
• Thursky, Karin A.
• Bajel, Ashish
• Ritchie, David S.
• Barth, Laura
• Man, Kelsey
• Blombery, Piers
• James, Paul
• Francis, Jillian

Abstract

<jats:title /><jats:p>The bone marrow failure syndromes (BMFS) are clinically diverse, with both inherited and acquired etiologies. Patients with BMFS may present unique, complex management issues and frequently experience poor outcomes due to multiple factors, including the rarity of the individual conditions. The Evaluating Multidisciplinary Bone maRrow fAilure CarE (EMBRACE) study is a multi-stage hybrid implementation-effectiveness study that aims to address these challenges by understanding the nature and scale of issues faced by these patients and their physicians, and then developing, implementing, and evaluating a comprehensive 10-component model of care (MoC10). Herein we report the results of the first stage of the EMBRACE study of issue identification and MoC10 development.</jats:p><jats:p>To identify barriers to optimal care, we performed structured interviews with patients with BMFS and patient advocate groups, followed by a nation-wide physician survey. Thematic analysis of interviews (n = 9) revealed multiple challenges with patient care, including (i) a lack of access to genomic testing to provide a definitive diagnosis, (ii) widespread difficulty in accessing genetic counselling and fertility advice, (iii) a lack of disease-specific patient information at the time of diagnosis, and (iv) perceived failings in care when transitioning from pediatric to adult services. Patients also described anxiety resulting from frequent encounters with health professionals unfamiliar with their disease, leading to significant anxiety and demonstrating a clear need for education both at the time of initial presentation, in considering whether an underlying inherited condition could be present and also following diagnosis, permitting relevant disease specific surveillance and care. As part of this patient-facing analysis, there was a desire on behalf of patients and patient advocates for the opportunity to participate in research and clinical trials.</jats:p><jats:p>A nation-wide physician survey was then performed targeting clinicians that treat patients with BMFS which received 74 responses across hematologists, oncologists, pediatricians and geneticists who cared for 267 patients with BMFS. The median number of patients cared for per physician was 2 (range 0 - 25), demonstrating a wide range of subspecialty experience and non-centralized care. Responses indicated a desire for affordable access to genomic testing, assistance with result interpretation and genetic counselling/cascade testing of extended kindred, a forum for complex case discussion and advice regarding patient management strategies.</jats:p><jats:p>Responses from patients, patient advocates and physicians, along with existing evidence-based and best-practice guidelines, were then used to develop a MoC. The MoC10 (Figure 1) incorporates 10 pillars directed at optimising care for patients with BMFS including funded access to genomic testing, access to expert genetic and fertility counselling, standardized hematological and solid organ cancer surveillance, and opportunity for multidisciplinary case discussion including expert opinion regarding allogeneic stem cell transplant. In addition, uncertain and novel germline variants are presented alongside de-identified case presentations at a national forum attended by physicians, scientists, and researchers to promote education, collaboration and information sharing with treating teams. After institutional approval, the MoC10 has been implemented and is undergoing structured evaluation to determine patient and physician acceptability and adherence. Embracing the well-known ‘Plan, Do, Study, Act’ cycle, our implementation approach facilitates iterative learning for continuous improvement.</jats:p><jats:p>In summary, after extensive stakeholder engagement, we have developed an evidence based comprehensive MoC addressing the current challenges facing patients with BMFS and their care teams. This comprehensive care program continues to undergo evaluation and audit consistent with the principles of an implementation-effectiveness study to determine both patient and physician satisfaction with the model, and iterative refinement in order to provide optimum care.</jats:p>

Topics

• impedance spectroscopy