Evaluating a Multidisciplinary Model of Care for Inherited Bone Marrow Failure and Predisposition to Hematological Malignancy
Authors: Fox Lucy C , Den Elzen Nicole , Goode Erin , Man Kelsey , Cheng Lin , Best Stephanie , Francis Jillian , Barth Laura , James Paul , Thursky Karin A , Bajel Ashish , Ritchie David S. , Blombery Piers 
Published: December 2024

The Evaluating Multidisciplinary Bone maRrow fAilure CarE (EMBRACE) study is a multi-stage hybrid implementation-effectiveness study addressing the unique and complex management issues faced by patients (pts) with inherited bone marrow failure syndromes (IBMFS) and hereditary predisposition to hematological malignancy (HHM). We have previously described the development of a 10-component model of care to address these challenges (Fox, Blood 2023;142(S1):369). Herein, we describe the evaluation of the model over the first two years of implementation using the RE-AIM (Reach, Effectiveness, Adoption, Implementation and Maintenance) framework (Glasgow, Patient Education and Counseling 2001;44(2):119-27).

The clinic service under evaluation operates in a quaternary referral centre for adult cancer. The service is staffed by two consultant hematologists and two genetic counsellors, with clinical oversight by a clinical geneticist. The service provides a consultative hematology genetics service, but also assumes primary care and coordinates surveillance for pts with an increased risk of malignancy and multisystem disease associated with IBMF/HHM. Between June 2021 - June 2023, 290 pts from 182 unrelated families, ranging from 4 months to 87 years of age were seen. Referrals were received from 34 public hospitals, 17 private health services and 81 general practitioners across Australia for diagnostic genomic investigation of IBMF/HHM (46%), predictive (28%), carrier (5%) and segregation (4%) testing of known variants, risk management advice given a family history of hematological malignancy (5%), or other guidance (11%).

Adoption and effectiveness were evaluated using metrics across the 10 components of the model. All individuals received genetic counselling with 90% receiving a written summary of outcomes. Of those undergoing genomic investigation, 38% received a definitive genetic diagnosis. The absence of a genetic diagnosis also being informative for pts with probable immune aplastic anemia or pts planned for hematopoietic stem cell transplant with a related donor. Participation in research including the IBMDx study (NCT05196789) and involvement on the Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (ACTRN12623000461695) was offered to 87% of eligible pts.

Challenges to model adoption included facilitating multidisciplinary case discussions (MCDs) with referring clinicians and ensuring standardized assessment and surveillance for pts with IBMF/HHM. MCDs were completed for 44% of pts where relevant, with the primary barrier being clinician availability. For individuals requiring surveillance, 31% were managed primarily by the service, with 67% managed solely by an external clinician, and 2% declined surveillance or were lost to follow up. Primary reasons for external management included location or age of individuals and referring clinician preferences. While disease specific surveillance recommendations were provided to clinicians of externally managed individuals where relevant, assessment of compliance was identified as a challenge.

Acceptability of the model to pts and family was assessed through a structured acceptability questionnaire. Results indicated that the model was highly acceptable, with the majority surveyed (n=14/19, 74%) expressing positive attitudes towards the care received. They reported that engaging with the care required little to no effort, did not interfere with other priorities, and felt confident in their ability to engage with the clinic's care (n=16, 84%). Additionally, most pts felt that the model helped them manage their symptoms (n=13, 68%). 53% believed it improved their quality of life (n=10), and 58% considered it a fair or very fair treatment for people with IBMF (n=11). Quality of life was assessed using EORTC QLQ C30, which showed the physical functioning of surveyed individuals was marginally improved at 12 months compared to baseline (n=20, 91% vs 86%, p=0.04). No significant changes were observed in other physical, psychological and social function.

In summary we have established an evidenced based service delivery model for pts with IBMFS/HHM. Evaluation using the RE-AIM framework has shown good reach, effectiveness and adoption of the model. Ongoing analysis will focus on clinician acceptability of the model and adaptations to address identified barriers to adoption.