PB0545 - The role of public health in rare diseases and bleeding disorders

Background: The role of public health has evolved from addressing infectious diseases to encompass non-communicable diseases. However, its role in genetic disorders and rare diseases may not be well-defined. Developing public health policies that recognise the unique needs of this vulnerable population is required to address the challenges posed by >10,000 rare diseases affecting ~450 million people worldwide. Comprehensive, patient-centred, and cost-effective approaches can support the physical and mental well-being of these individuals.

Aims: To summarise definitions and concepts related to health, public health, rare diseases, and specifically, haemophilia, and to highlight the role of integrating public health interventions into routine care in improving patient outcomes.

Methods: A narrative literature review was conducted, searching PubMed and Google Scholar on various topics related to rare diseases, public health, and haemophilia.

Results: The concept of health is complex and multifactorial, making it impractical to adopt a single definition for all health conditions. In genetic disorders and rare diseases, health can be achieved when individuals effectively manage their health condition, including both illness and well-being states. Therefore, public health can play an important role in improving health outcomes of people with rare diseases by accomplishing a set of objectives (Figure 1). Despite progress in high-income countries, low- and middle-income countries still lag behind in supporting individuals with rare diseases. Establishing a priority list of efficient public health management approaches may help overcome this disparity (Figure 2). For inherited bleeding disorders and specifically haemophilia, public health surveillance is weak, hindering the estimation of its humanistic and economic burden. Consequently, the development of related public health policies supporting accessible and cost-effective innovative therapies is impeded.

Conclusion(s): Enhancing public health surveillance, policies, and interventions in rare diseases can bridge data gaps, support access to equitable treatment, promote evidence-based care, and improve outcomes across the socioeconomic spectrum.