Qualitative genomic research with Indigenous peoples: a scoping review of participatory practice.

Introduction: Indigenous peoples and perspectives are under-represented within genomic research. Qualitative methods can help redress this under-representation by informing the development of inclusive genomic resources aligned with Indigenous rights and interests. The difficult history of genomic research with Indigenous peoples requires that research be conducted responsibly and collaboratively.

"I Just Assumed This Was Already Being Done": Canadian Patient Preferences for Enhanced Data Sharing for Precision Oncology.

Purpose: In Canada, health data are siloed, slowing bioinnovation and evidence generation for personalized cancer care. Secured data-sharing platforms (SDSPs) can enable data analysis across silos through rapid concatenation across trial and real-world settings and timely researcher access. To motivate patient participation and trust in research, it is critical to ensure that SDSP design and oversight align with patients' values and address their concerns.

Next-generation sequencing in oncology: challenges in economic evaluations.

Introduction: Next-generation sequencing (NGS) identifies genetic variants to inform personalized treatment plans. Insufficient evidence of cost-effectiveness impedes the integration of NGS into routine cancer care. The complexity of personalized treatment challenges conventional economic evaluation.

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.

Importance: Etiologic diagnoses for rare diseases can involve a diagnostic odyssey, with repeated health care interactions and inconclusive diagnostics. Prior studies reported cost savings associated with genome-wide sequencing (GWS) compared with cytogenetic or molecular testing through rapid genetic diagnosis, but there is limited evidence on whether diagnosis from GWS is associated with reduced health care costs.

Objective: To measure changes in health care costs after diagnosis from GWS for Canadian and English children with suspected rare diseases.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.

Purpose: To determine real-world diagnostic rates, cost trajectories, and cost-effectiveness of exome sequencing (ES) and genome sequencing (GS) for children with developmental and/or seizure disorders in British Columbia, Canada.

Methods: Based on medical records review, we estimated real-world costs and outcomes for 491 patients who underwent standard of care (SOC) diagnostic testing at British Columbia Children's Hospital. Results informed a state-transition Markov model examining cost-effectiveness of 3 competing diagnostic strategies: (1) SOC with last-tier access to ES, (2) streamlined ES access, and (3) first-tier GS.

Defining a Core Data Set for the Economic Evaluation of Precision Oncology.

Objectives: Precision oncology is generating vast amounts of multiomic data to improve human health and accelerate research. Existing clinical study designs and attendant data are unable to provide comparative evidence for economic evaluations. This lack of evidence can cause inconsistent and inappropriate reimbursement.

Automated low-contrast pattern recognition algorithm for magnetic resonance image quality assessment.

Purpose: Low contrast (LC) detectability is a common test criterion for diagnostic radiologic quality control (QC) programs. Automation of this test is desirable in order to reduce human variability and to speed up analysis. However, automation is challenging due to the complexity of the human visual perception system and the ability to create algorithms that mimic this response.