The inherited bone marrow disorders (IBMD) comprise both the traditional inherited bone marrow failure syndromes (BMFS) and the more recently described entity of germline predisposition to haematological malignancy. Patients with IBMD often present highly complex health issues that are unique and not commonly encountered. As a consequence, clinicians may feel less confident in managing these unique issues given their lack of frequent exposure to this patient group. Recent advances in genomics have resulted in more accurate diagnosis of IBMD and their subtyping and have resulted in a rapidly evolving field with multiple opportunities to improve patient outcomes.~Stage 1 of this study evaluated and quantified the current challenges faced by 3 stakeholder groups, patients with IBMD, patient advocates and nationally, clinicians who care for IBMD patients. The results demonstrated that the challenges described in Stage 1 may be overcome by instigating a multidisciplinary approach to care for BMF patients. Interventions designed to address the challenges identified in stage 1 form the model of multidisciplinary care to be implemented in the Peter MacCallum Cancer Centre/ Royal Melbourne Hospital clinic. The model of care involves:~Provide access to genetic testing with expert result interpretation~Presentation of clinical information and relevant investigations (including genetic) at a multidisciplinary team meeting involving haematologists, molecular haematopathologists, clinical genetics, genetic counsellors, scientists and specialised nurses.~Provision of a suggested care plan to clinician~Genetic counselling and provision of written disease specific information including details of suggested care plan to patient~Genetic counselling and provision of written information and access to testing for at risk family members~Dedicated team focused on many individually rare diseases with a demonstrated focus on provision of comprehensive care~Opportunity to participate in local and international research~The EMBRACE study will focus on evaluating the model of care.
This is a prospective hybrid implementation-effectiveness study of a model of care for patients with bone marrow failure syndromes and inherited predisposition to haematological malignancy that includes comprehensive diagnostic genomic evaluation, multidisciplinary case review, provision of clinical care including from clinical haematologists, medical geneticists and genetic counsellors.