112 Chapter 4 In recent years, advances regarding novel therapeutic approaches in inherited bleeding disorders and other rare disease entities underline the need for systematic outcome measurement in healthcare and research 1. Traditionally, hemophilia treatment centers have focused on clinical outcomes such as bleeding frequency, functional status and joint damage as well as health-related quality of life (HRQoL). Assessment of HRQoL or the person’s perception of their own health and functioning is essential to fully understand the impact of a chronic, potentially debilitating, disease on the individual and to evaluate the implications of varying treatment strategies 2. In order to gain insight into these perspectives, patientreported outcomes (PROs) should be measured. Combining these PROs with clinical outcomes, corrected for case-mix variables, ensures adequate analysis of treatment choice and personalization when possible. Selecting a set of outcomes that are important for patients with an inherited bleeding disorder is mandatory before application in healthcare and research can be accomplished. Recently, several initiatives have led to core outcomes sets for hemophilia in collaboration with patients and patient advocates 1,3. Both Dover et al. and van Balen et al. used a nominal consensus process with an international group of hemophilia experts to select a core set of health outcomes for persons with hemophilia 1,3. Another core outcome set, the CoreHEM, was specifically developed by Iorio et al. for the evaluation of gene therapy in persons with hemophilia 4. An initiative by the World Federation of Hemophilia (WFH) resulted in the Patient Reported Outcomes, Burdens and Experiences (PROBE) questionnaire, which combines questions related to demographics, general health problems, hemophilia-related health problems and HRQoL 5. The PROBE questionnaire can be applied in both persons with hemophilia and persons without a bleeding disorder, enabling the assessment and comparison of the impact of disease and possible treatment interventions with other disease fields using one measurement tool 5 (Table 1). Similarities exist between the various outcome sets for hemophilia and the PROBE questionnaire. Even though they were designed for a different purpose, they almost all include the PROs pain, ability to engage in daily or usual activities and mental health. Unfortunately, barriers exist for the implementation of these outcome sets in healthcare and research. Barriers include: choices and harmonization of outcome sets e.g., selected PROs and recommended measurement tools also called Patient Reported Outcome Measures (PROMs) and general incomprehension of terminology and interpretation of results. Other commonly mentioned barriers in implementation studies are the high
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