Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?

Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic pathway for patients suspected of having a rare genetic disease.

Methods: Data collected retrospectively from 305 patients suspected of having a rare genetic disease (RGD), who received clinical-grade ES and participated in the Canadian multicentre Care4Rare-SOLVE study, informed a discrete event simulation of the diagnostic pathway.

Intended and unintended consequences of strategies to meet performance benchmarks for rheumatologist referrals in a centralized intake system.

Rationale: Timely assessment of a chronic condition is critical to prevent long-term irreversible consequences. Patients with inflammatory arthritis (IA) symptoms require diagnosis by a rheumatologist and intervention initiation to minimize potential joint damage. With limited rheumatologist capacity, meeting urgency wait time benchmarks can be challenging.

Exploratory analysis using discrete event simulation modelling of the wait times and service costs associated with the maximum wait time guarantee policy applied in a rheumatology central intake clinic.

Adherence to wait time benchmark targets for the diagnosis and initiation of interventions for rheumatoid arthritis is crucial in altering the disease trajectory. We analysed the impact of the maximum wait time guarantee (MWTG) policy for routing referrals for the initial rheumatologist consults on the waiting and service costs. We modelled a central intake system for a rheumatology clinic as a discrete event simulation (DES) model.

A Simulation Modelling Study of Referral Distribution Policies in a Centralized Intake System for Surgical Consultation.

Delays beyond recommended wait times, especially for specialist services, are associated with adverse health outcomes. The Alberta Surgical Initiative aims to improve the referral wait time-the time between a referral is received at the central intake to the time a specialist sees the patient. Using the discrete event simulation modelling approach, we evaluated and compared the impact of four referral distribution policies in a central intake system on three system performance measures (number of consultations, referral wait time and surgeon utilization).

Alternative care providers in rheumatoid arthritis patient care: a queueing and simulation analysis.

Patients diagnosed with rheumatoid arthritis require lifelong monitoring by a rheumatologist. Initiation of the disease-modifying anti-rheumatic drug therapy within twelve weeks of the onset of symptoms is crucial to prevent joint damage and functional disability. We examine the impact of the engagement of alternate care providers (ACP) in alleviating delay due to limited rheumatologist capacity.