Johnson, Britt

AbstractThis study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure®, a sponsored genetic testing program (Cohort A), were compared to children outside of the sponsored testing program during the same period (Cohort B). Two cohorts were analyzed: children aged ≥24 to ≤60 months with unprovoked seizure onset at ≥24 months between December 2016 and January 2020 (Cohort 1) and children aged 0 to ≤60 months at time of testing with unprovoked seizure onset at any age between February 2019 and January 2020 (Cohort 2). The diagnostic yield in Cohort 1A (n = 1814) was 8.4% (n = 153). The TPP1 diagnostic yield within Cohort 1A was 2.9‐fold higher compared to Cohort 1B (1.0%, n = 18/1814 vs. .35%, n = 8/2303; p = .0157). The average time from first symptom to CLN2 disease diagnosis was significantly shorter than previously reported (9.8 vs. 22.7 months, p < .001). These findings indicate that facilitated access to early epilepsy gene panel testing helps to increase diagnostic yield for CLN2 disease and shortens the time to diagnosis, enabling earlier intervention.

ObjectiveHow best to involve patients in the development of clinical practice guideline (CPG) recommendations is not known. We sought to determine the feasibility and value of developing CPG recommendations based on a voting panel composed entirely of patients, with the ultimate goal of comparing the patients’ recommendations to ones developed by a physician‐dominated voting panel on the same clinical questions.MethodsTen patients with rheumatoid arthritis completed 8 hours of training on evidence‐based medicine and guideline development. They constituted a voting panel and, with 2 American College of Rheumatology staff with expertise in CPG development and a physician facilitator, subsequently met at a face‐to‐face meeting to develop recommendations. They applied the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology to formulate recommendations on 18 questions for which there was evidence warranting moderate or high confidence.ResultsThe patient panel developed recommendations for 16 of the 18 questions; for the other 2, the panel thought there were insufficient data to support a recommendation. For 13 of the 16 questions, the patient panel recommended the same course of action as did the physician‐dominated panel. Differences were due to how the 2 panels valued the balance between benefits and harms.ConclusionPatient and physician‐dominated panels developed the same recommendations for most questions for which there was evidence warranting moderate to high confidence. Additional experiences are necessary to advance the evidence necessary to determine what panel composition is optimal to produce the best guidelines.