The current diagnostic pathway for patients with a suspected inherited bleeding disorder is long, costly, resource intensive, emotionally draining for patients and often futile, as half of patients will remain without a diagnosis and be labelled ‘bleeding disorder of unknown cause’. Advances in understanding the genetic basis of the inherited bleeding disorders, coupled with both increasing infrastructure for genetic/genomic testing and decreasing costs, have increased the feasibility of introducing genomic testing into the clinical diagnostic pathway as a potential solution to improve the care of these patients. Yet, there remain evidence gaps on the optimal integration of genomic analysis into the diagnostic pathway.

Using a multicentre randomised-controlled trial design, we will evaluate an early genomic testing strategy for the diagnosis of newly referred patients with a suspected inherited bleeding disorder. Eligible participants will be randomised to early genomic testing diagnostic pathway (intervention) or standard diagnostic pathway (control) and will be followed for a 12-month period. Patients in the control group who remain undiagnosed at study end will be offered identical early genomic testing to ensure equitable access to the intervention. The study will follow a parallel fixed design with waitlist control group and a 1:1 allocation ratio. The study will be conducted at three tertiary care centres in Ontario, Canada, with a target sample size of 212 participants. Clinical utility will be evaluated via the primary outcome of diagnostic yield, as well as the secondary outcome of time to diagnosis. Additional secondary outcomes will allow for assessment of patient impact via health-related quality of life and patient burden measures, as well as evaluation of economic impact through a cost-effectiveness analysis and budget impact analysis.

This investigator-initiated study was approved by the Queen’s University Health Sciences and Affiliated Teaching Hospitals Research Ethics Board through Clinical Trials Ontario (CTO-4909). Participant informed consent/assent is required. Findings will be disseminated through academic publications.

ClinicalTrials.gov, NCT06736158.

Prisons present both unique opportunities and challenges for delivering healthcare to individuals who often experience significant vulnerabilities and often have poor health outcomes. Actions and solutions informed by the health literacy strengths and challenges (ie, health literacy-informed interventions) of people in prison offer an opportunity to build fit-for-purpose and effective interventions in this unique context. This study aims to adapt and apply the three-phase Optimising Health Literacy and Access (Ophelia) process in a state-wide prison context to generate codesigned improvements in information, resources and services for people in prison.

Health Literacy Questionnaire data from 471 people in prison will be analysed using descriptive and cluster analyses (Ophelia Phase 1). Clusters, with qualitative interview data, will then inform vignette development for use in ideas generation workshops and yarning circles with stakeholders to develop health literacy-informed interventions. Selection, prioritisation and testing of identified interventions will be undertaken (Phase 2), followed by implementation and evaluation (Phase 3). This project will advance intervention development in the prison context, enabling the voice of people in prison and service providers to be heard through codesign. The protocol will inform the development and implementation of interventions to systematically improve the delivery of information, services and resources for people in prison, which may be relevant to prison healthcare authorities globally.

Ethical approval to undertake Phase 1 of the Ophelia process has been granted from the following Human Research Ethics Committees: Swinburne University of Technology (Ref: 20236977–15461), Justice Health NSW (Ref: 2022/ETH01433), Aboriginal Health and Medical Research Council (Ref: 2007/22) and the Corrective Services Ethics Committee (Ref: D2022/1452326). Dissemination of the study findings will be the Justice Health NSW codesign process and ownership of the project through authentic engagement with people with lived experience and health and corrective staff. It will also be disseminated through publication in a PhD thesis, peer-reviewed research papers and conference presentations.