Scoping review of the recommendations and guidance for improving the quality of rare disease registries.

BACKGROUND: Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their potential utility as a source of evidence to support decision-making regarding the approval and funding of new treatments for rare diseases. OBJECTIVES: The goal of this research project was to review the literature on rare disease registries and identify best practices to improve the quality of RDRs. METHODS: In this scoping review, we searched MEDLINE and EMBASE as well as the websites of regulatory bodies and health technology assessment agencies from 2010 to April 2023 for literature offering guidance or recommendations to ensure, improve, or maintain quality RDRs. RESULTS: The search yielded 1,175 unique references, of which 64 met the inclusion criteria. The characteristics of RDRs deemed to be relevant to their quality align with three main domains and several sub-domains considered to be best practices for quality RDRs: (1) governance (registry purpose and description; governance structure; stakeholder engagement; sustainability; ethics/legal/privacy; data governance; documentation; and training and support); (2) data (standardized disease classification; common data elements; data dictionary; data collection; data quality and assurance; and data analysis and reporting); and (3) information technology (IT) infrastructure (physical and virtual infrastructure; and software infrastructure guided by FAIR principles (Findability; Accessibility; Interoperability; and Reusability). CONCLUSIONS: Although RDRs face numerous challenges due to their small and dispersed populations, RDRs can generate quality data to support healthcare decision-making through the use of standards and principles on strong governance, quality data practices, and IT infrastructure.

Economic Evaluation of Early Psychosis Interventions From A Canadian Perspective.

BACKGROUND: Compared to treatment as usual (TAU), early psychosis intervention programs (EPI) have been shown to reduce mortality, hospitalizations and days of assisted living while improving employment status. AIMS: The study aim was to conduct a cost-benefit analysis (CBA) and a cost-effectiveness analysis (CEA) to compare EPI and TAU in Canada. METHODS: A decision-analytic model was used to estimate the 5-year costs and benefits of treating patients with a first episode of psychosis with EPI or TAU. EPI benefits were derived from randomized controlled trials (RCTs) and Canadian administrative data. The cost of EPI was based on a published survey of 52 EPI centers in Canada while hospitalizations, employment and days of assisted living were valued using Canadian unit costs. The outcomes of the CBA and CEA were expressed in terms of net benefit (NB) and incremental cost per life year gained (LYG), respectively. Scenario analyses were conducted to examine the impact of key assumptions. Costs are reported in 2019 Canadian dollars. RESULTS: Base case results indicated that EPI had a NB of $85,441 (95% CI: $41,140; $126,386) compared to TAU while the incremental cost per LYG was $26,366 (95% CI: EPI dominates TAU (less costs, more life years); $102,269). In all sensitivity analyses the NB of EPI remained positive and the incremental cost per LYG was less than $50,000. CONCLUSIONS: In addition to EPI demonstrated clinical benefits, our results suggest that large-scale implementation of EPI in Canada would be desirable from an economic point of view .

Low prioritization of latent tuberculosis infection-A systemic barrier to tuberculosis control: A qualitative study in Ontario, Canada.

BACKGROUND: Eliminating tuberculosis (TB) in low-incidence countries is an important global health priority, and Canada has committed to achieve this goal. The elimination of TB in low-incidence countries requires effective management and treatment of latent tuberculosis infection (LTBI). This study aimed to understand and describe the system-level barriers to LTBI treatment for immigrant populations in the Greater Toronto and Hamilton Area, Ontario, Canada. METHODS: A qualitative study that used purposive sampling to recruit and interview health system advisors and planners (n = 10), providers (n = 13), and clients of LTBI health services (n = 9). Data were recorded, transcribed verbatim, and analyzed using content analysis. RESULTS: Low prioritization of LTBI was an overarching theme that impacted four dimensions of LTBI care: management, service delivery, health literacy, and health care access. These factors explained, in part, inequities in the system that were linked to variations in health care quality and health care access. While some planners and providers at the local level were attempting to prioritize LTBI care, there was no clear pathway for information sharing. CONCLUSIONS: This multiperspective study identified barriers beyond the typical socioeconomic determinants and highlighted important upstream factors that hinder treatment initiation and adherence. Addressing these factors is critical if Canada is to meet the WHO's global call to eradicate TB in all low incidence settings.