Page 196 - Let them speak Towards a patient reported outcome measure set for

Chapter 7
(FDA) encourage the measurement of PROs in medicines development
(73, 74). In addition, first efforts are made to harmonize clinical outcome
instruments, including PROMs, for rare diseases (75, 76). This GenID
core PROM set represents an important next step toward harmonized,
scientifically robust PROMs for individuals with GenID.
Future research
Several aspects of the core PROM set require further evaluation. First,
its psychometric properties should be assessed in caregivers of young
children (1–4 years), in children (8-17 years), and in relevant subgroups,
such as specific genetic conditions or individuals with different levels of
intellectual functioning or comorbidities. Second, additional psychometric
properties, including responsiveness, should be examined, and a minimal
important difference must be established for GenID. In addition, the
relevance, comprehensiveness, and comprehensibility of the items should
be evaluated for both affected individuals and caregivers (77). If needed,
items should be removed, added, or adjusted. Third, research is needed to
determine whether caregivers feel like they can adequately empathize and
report on behalf of the individual with GenID, particularly those with severe
or profound ID. Finally, further work should examine whether individuals
benefit from assistance in completing the questionnaires, or whether such
assistance introduces bias (78).
Conclusions
In this study, a GenID core PROM set was selected and its reliability, efficiency,
and construct validity evaluated in caregivers of children with GenID, adults
with GenID, and caregivers of adults with GenID. Most PROMs measuring
PROs across all health domains proved reliable and more efficient than
most legacy questionnaires, although reliability of single-item PROMs
varied. The GenID core PROM set offers advantages by enabling sensitive
detection of health problems and requiring few items to assess health and
functioning. Further psychometric evaluation of the core PROM set in the
GenID population is warranted. In GenID care and research, this core PROM
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