Most of rare disease (RD) patients are assisted in their homes by their family as informal caregivers, causing a substantial burden among family members devoted to care. The role of informal caregivers has been associated with increased levels of stress, poor physical/mental health and impaired HRQOL. The present study assessed the impact on HRQOL and perceived burden of long-term informal caregiving, as well as the inter-relationships of individuals affected by different RD in six European countries, taking advantage of the data provided by the BURQOL-RD project (France, Germany, Italy, Spain, Sweden and UK). Correlation analysis was used to explore the relation between caregiver HRQOL and caregiver burden (Zarit Burden Interview). Multinomial logistic regression models were used to explore the role of explanatory variables on each domain of caregivers HRQOL measured by EQ-5D. Caregivers’ HRQOL is inversely correlated with burden of caring. Mobility dimension of EQ-5D was significantly associated with patients age, time devoted to care by secondary caregivers, patient gender and patient utility index. Patients’ age, burden scores and patient utility index significantly predict the capacity of caregivers to perform activities of daily living. Employed caregivers are less likely of reporting ‘slight problems’ in pain/discomfort dimensions than unemployed caregivers. The EQ-5D instrument is sensitive to measure differences in HRQOL between caregivers with different levels of burden of care.

Objective: The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases.Methods: We searched papers published in English in PubMed from January 2007 to December 2018. We selected cost-of-illness studies on rare diseases defined as those with prevalence lower than 5 per 10,000 cases. Studies were selected by one researcher and verified by a second researcher. Methodological characteristics were extracted to develop a narrative synthesis.Results: We included 63 cost-of-illness studies on 42 rare diseases conducted in 25 countries, and 9 systematic reviews. Most studies (94%) adopted a prevalence-based estimation, where the predominant design was cross-sectional with a bottom-up approach. Only four studies adopted an incidence-based estimation. Most studies used questionnaires to patients or caregivers to collect resource utilisation data (67%) although an important number of studies used databases or registries as a source of data (48%). Costs of lost productivity, non-medical costs and informal care costs were included in 68%, 60% and 43% of studies, respectively.Conclusion: This review found a paucity of cost-of-illness studies in rare diseases. However, the analysis shows that the cost-of-illness studies of rare diseases are feasible, although the main issue is the lack of primary and/or aggregated data that often prevents a reliable estimation of the economic burden.

Objective: Medication non-adherence in mental health problems has social and economic costs. The objective of the study was to review the cost-effectiveness of interventions to enhance medication adherence in patients with mental health problems. Methods: The update of a previous systematic review was performed. Databases were searched in June 2019: MEDLINE, PSYCINFO, EMBASE, CINAHL, CRD, WOS. Cost-effectiveness studies comparing an intervention to improve the medication adherence with other interventions/usual care in adults with mental health problems were included. Data were extracted, methodological quality of the studies was assessed and a narrative synthesis was performed. Results: Nine studies were included in the review. The interventions that showed medication adherence increase were: a financial incentive when depot injection was taken by patients with psychotic disorders, a value-based benefit design policy including copayment and counselling in a company setting, and a medication treatment decision supported by a pharmacogenetic test. The other studies (coaching by pharmacists; a psychological and educational intervention at health care centres) did not find differences between groups. No study found cost differences between alternatives. Conclusions: Interventions to improve medication adherence in adults with mental health problems could be cost-effective, especially those based on financial incentives, although more research is needed.

Background When healthcare budgets are exogenous, cost-effectiveness thresholds (CETs) used to inform funding decisions should represent the health opportunity cost (HOC) of such funding decisions, but HOC-based CET estimates have not been available until recently. In recent years, empirical HOC-based CETs for multiple countries have been published, but the use of these CETs in the cost-effectiveness analysis (CEA) literature has not been investigated. Analysis of the use of HOC-based CETs by researchers undertaking CEAs in countries with different decision-making contexts will provide valuable insights to further understand barriers and facilitators to the acceptance and use of HOC-based CETs. Objectives We aimed to identify the CET values used to interpret the results of CEAs published in the scientific literature before and after the publication of jurisdiction-specific empirical HOC-based CETs in four countries. Methods We undertook a scoping review of CEAs published in Spain, Australia, the Netherlands and South Africa between 2016 (2014 in Spain) and 2020. CETs used before and after publication of HOC estimates were recorded. We conducted logit regressions exploring factors explaining the use of HOC values in identified studies and linear models exploring the association of the reported CET value with study characteristics and results. Results 1171 studies were included in this review (870 CEAs and 301 study protocols). HOC values were cited in 28% of CEAs in Spain and in 11% of studies conducted in Australia, but they were not referred to in CEAs undertaken in the Netherlands and South Africa. Regression analyses on Spanish and Australian studies indicate that more recent studies, studies without a conflict of interest and studies estimating an incremental cost-effectiveness ratio (ICER) below the HOC value were more likely to use the HOC as a threshold reference. In addition, we found a small but significant impact indicating that for every dollar increase in the estimated ICER, the reported CET increased by US$0.015. Based on the findings of our review, we discuss the potential factors that might explain the lack of adoption of HOC-based CETs in the empirical CEA literature. Conclusions The adoption of HOC-based CETs by identified published CEAs has been uneven across the four analysed countries, most likely due to underlying differences in their decision-making processes. Our results also reinforce a previous finding indicating that CETs might be endogenously selected to fit authors’ conclusions.

Newborn screening (NBS) for inherited disorders is recognized as an essential public health intervention to improve health outcomes in the newborn population. The implementation of an NBS programme requires an evaluation of effectiveness, safety, cost-effectiveness, feasibility, and budget impact. Determining which of the known disorders should be included in NBS programmes is a public health policy challenge. In this context, economic evaluation aims to contribute to the sustainability of public health systems, but the appropriate economic evaluation framework for these interventions is still unclear. Existing NBS programmes vary widely in the number and type of disorders screened, even among the most developed European countries, despite the fact that the core criteria for guiding policy decision-making are standard. In Spain, where delivery of NBS programmes is marked by heterogeneity between regions, guidelines based on the best available scientific evidence are being established in order to achieve standardization of NBS policies and programmes at a national level. This paper provides a general overview of existing evidence-based health-policy initiatives aimed at enhancing the equity and efficiency of the NBS programme in Spain and their impact on health decisions. We also describe existing challenges to reduce uncertainty, and the variations observed in decisions relating to the content and procedures used in NBS programmes.

Imaging diagnosis is essential for treatment planning in stroke patients. However, use of these techniques varies due to uncertainty about their effectiveness. Our purpose was to describe the use of CT and MRI in stroke and transient ischaemic attack (TIA) over 5years in hospitals belonging to the Canary Islands Health Service and analyse interhospital variability based on routinely collected administrative data. We gathered the minimum basic dataset (MBDS) from patients diagnosed with stroke or TIA between 2005 and 2010 in 4hospitals. Patients' age, sex, procedures, secondary diagnoses, and duration of hospital stay were also recorded. We conducted a descriptive analysis of patient characteristics and a bivariate analysis using the t test and the chi square test to detect differences between patients assessed and not assessed with MRI. Logistic regression was used to analyse unequal access to MRI. Our study included 10,487 patients (8,571 with stroke and 1,916 with TIA). The percentage of stroke patients undergoing a CT scan increased from 89.47% in 2005 to 91.50% in 2010. In these patients, use of MRI also increased from 25.41% in 2005 to 36.02% in 2010. Among patients with TIA, use of CT increased from 84.64% to 88.04% and MRI from 32.53% to 39.13%. According to our results, female sex, younger age, and presence of comorbidities increase the likelihood of undergoing MRI.