| Abstract | This thesis is expected to contribute to the practice of treatment of rare diseases by
integrating the three perspectives Evidence Based Medicine (EBM), Quality of Life (QoL)
and Health Economics (HE) considerations into a comprehensive framework. Rare diseases
have low prevalence but combined affect approximately up to 10% of the overall population,
posing unique challenges across all three perspectives. Multiple stakeholders exert influence
and drive decisions based on different and sometimes conflicting criteria and objectives,
resulting in controversies and real or perceived suboptimal outcomes and deployment of
resources which affect the well-being of patients. EBM, QoL and HE are not directly linked
with one another and most often not considered together in all relevant decisions. Agency
theory is utilized as an underlying theoretical framework. Both previous research and current
empirical evidence have identified some gaps which are consistents with the double agency
theory framework and, in addition, with the missed opportunity to fully integrate the three
perspectives. This thesis aims to confirm and possibly close some of these gaps, broaden the
scope and applicability of the theory, attempting to offer an integrated approach that
mitigates the current empirical observation that each approach is taken independently forces
on the other stakeholders’ suboptimal results. A deductive research method was selected and
both qualitative and quantitave research was pursued. This thesis reports on research that
focuses on Hereditary Angioedema (HAE) as an example for rare diseases, using a
combination of a broad survey with treating physicians, a search on social media and a metaanalysis
of scientific articles and research on the condition and its relevant aspects. The
chosen methodology allowed for a broad scope of sources and perspectives, consistent
findings and strong conclusions, and the identification of potential gaps and misalignments.
The research confirmed patients, the physicians and the payers as the most important
stakeholders. It also provided insights on the variables leading to diagnosis and treatment
decisions, which included specific aspects of the condition, behaviors by patients, caregivers
and physicians, alternative treatment options and objectives, with their corresponding
implications on clinical outcomes, QoL and costs. The different components of the research
mapped into the themes identified in the literature search, reinforcing the application of the
theoretical framework and extending its application into the area of rare diseases. While
answering the RQs and substantiating the application of the double agency theory as an
underlying theoretical framework, the thesis was able to prove the interrelation of the
different variables, possibly setting the groundwork to develop an algorithm or a formula
which would allow to optimize the outcome of the treatment and the funding decisions.
However, current constraints such as high variability and lack of sufficient data would
probably cause such an algorithm to be cumbersome and of limited use in real life. On the
other hand, the prioritization and quantification of the variables, may be instrumental and
could contribute to building bridges across the stakeholders patients, physicians and payers,
enabling the sharing of knowledge and augmenting its impact through the integrated
approach, offering a more robust instrument to enhance the impact of their action. |
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