Page 60 - Let them speak Towards a patient reported outcome measure set for

Chapter 3
Quality of Life Inventory (21)), condition-specific (i.e., measuring health
concepts relevant to a specific condition, such as the tuberous sclerosis
complex (TSC) PROM (22)), or individualized (i.e., measuring health
concepts relevant to a specific individual, such as the Patient-Specific
Complaint Questionnaire (23)) (24, 25) (see Additional file 1).
PROMs can be used in both care and research and may serve as a valuable
tool to guide health policy (Figure 1). In care, PROMs can be used for the
individual with GID to monitor overall functioning, screen for problems, and
establish personalized treatment. The use of PROMs in care has already
shown benefits within a wide range of fields like oncology, primary care,
and psychiatry (26, 27), but is still not routinely used in care for GID (28). In
research involving individuals with GID, PROMs can be used to assess the
efficacy and safety of treatments, as well as to gain more insight into the
natural course of the disorder. This also helps in identifying new research
areas, all from the perspective of the affected individuals or their caregivers
(29, 30). Moreover, PROMs are gaining escalating significance in patient
registries for rare diseases, including GID, due to the growing recognition
of the necessity to incorporate patients’ perspectives to fully capture the
burden of a disease and its treatment (31). Lastly, PROMs can contribute
to a more patient-centered health policy, ensuring that health policies are in
harmony with the needs of patients. PROMs could, for instance, serve as
an indicator to evaluate quality of the often time- and labor-intensive care
delivered for individuals with GID (32). Additionally, PRO data gathered with
PROMs could inform the development of clinical guidelines and influence
decisions regarding funding healthcare (24, 33).
Currently, various PROs are measured for GID, especially in research. A
recent study identified more than 200 different PROMs, which were being
utilized in 312 clinical trials involving individuals with GID (34). Although
this overload of PROs measured is not surprising due to the wide spectrum
of manifestations of GID, it does hamper the possibility to combine and
compare PRO data across different genetic or other subgroups (30).
Additionally, analyzing and interpreting PRO data can be complex due to
the multidimensionality of PROs (e.g., adaptive functioning), differences
in terminology used for similar PROs (e.g., participation, engagement in
meaningful activity, community involvement), and unclear PROs due to
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