Are Disease-Specific Patient-Reported Outcomes Measures (PROMs) Used in Cardio Genetics? A Review: Circulation

Abstract Background: Besides hard medical outcomes in patients with inherited cardiac conditions (ICC). it is crucial to focus on the patient-reported outcomes (PRO) as well. These patients may have a disease-specific need due to ICC-related distress concerning family members and reproductive choices. We evaluated which PRO scales are currently used in cardiogenetics. Methods: From three datasets (PubMed, PsychINFO, and Web of Science), eligible studies published between 2008-2022 were selected as described in the review protocol (PROSPERO 2021 CRD42021271384). The quality of studies was assessed (https://pubmed.ncbi.nlm.nih.gov/27082055 ) and analyzed for the primary outcome variable of patient-reported outcomes. Results: Eighteen out of 232 articles were selected for data extraction; 9 studies used a cross-sectional design, and population characteristics and outcome measures varied. The risk of bias was high or unclear in 77% of the studies. All studies mainly used two questionnaires in combination or alone: the short form of medical outcomes survey (SF-36), a generic PROM that reports on health status and the Hospital Anxiety and Depression Scale (HADS), a standard measure of psychological well-being. Thirteen studies using SF-36 showed lower scores on the mental health component in patients with ICC versus population norms. Ten studies using HADS showed a prevalence of clinically significant anxiety (17-47%) and depression (8.3% to 28%) which are higher than the population norm (8.3% and 6.3%). Conclusion: Our results from only a few published studies indicate that although psychological morbidity in ICC patients is high, measurements are non-specific, variable, and generic and address overall health, instead of addressing factors specific to ICC, such as heritability. We propose to develop a disease-specific PROM for cardiogenetics to evaluate the heritability factor in patients with ICC to implement in the care pathway and optimize patient-centred care.