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.

Conducting ethical, co-produced research with autistic individuals with an eating disorder: best practice guidelines.

There is a notable overlap between autism and eating disorders (EDs), and autistic individuals may experience poorer ED treatment outcomes than non-autistic peers. To make meaningful change in this field, it is imperative that we actively engage in co-production of research, however there are currently no guidelines to support co-production with autistic people with eating disorders. This paper reports on best practice guidelines that were co-produced across a series of workshops bringing together autistic people with EDs, researchers, clinicians, third-sector organisations, and parents/carers.

The Effects of Whole-Body Exercise on Swallowing Function in Older Adults With Parkinson's Disease: A Proof-of-Principle Study.

Purpose: Rodent models suggest that when respiratory demands increase during an exercise program, tongue and thyroarytenoid muscles engage to maintain a patent airway, leading to increased muscle strength. This suggests that nonspecific exercises that increase respiratory rate may improve swallowing. As such, the purpose of this proof-of-principle study was to determine the potential for whole-body exercise to improve tongue strength, cough strength, and self-reported swallowing function in older adults with Parkinson's disease (PD).

Measuring Patient Preferences to Inform Clinical Trial Design: An Example in Rheumatoid Arthritis.

Background: Allogeneic bone marrow transplantation (BMT) may be a curative treatment for patients with rheumatoid arthritis (RA), but it has serious risks, including death. It is uncertain whether patients would accept the risks and benefits of BMT and participate in clinical trials. We conducted a discrete choice experiment (DCE) to quantify risk tolerance and benefit-risk trade-offs to inform the design of a clinical trial for BMT.