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Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
Appl Health Econ Health Policy
December 2024
Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.
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.
Article Synopsis
- - The study explores pre-mRNA splicing, its critical role in neurodevelopment, and how mutations in spliceosome-related genes U2AF2 and PRPF19 contribute to neurodevelopmental disorders (NDDs).
- - Researchers found multiple pathogenic variants in U2AF2 and PRPF19 across unrelated individuals, with functional analysis showing that specific U2AF2 variants disrupted normal splicing and neuritogenesis in human neurons.
- - Additionally, investigations in Drosophila models revealed that the loss of function in U2AF2 and PRPF19 caused severe developmental defects and social issues, pointing to a genetic network wherein splicing factors like Rbfox1 play a significant role in brain development and function. *
Should Nursing Schools Boycott Traditional College Ranking Systems?
Am J Nurs
September 2023
Kenya Beard is dean and chief academic officer at the Mercy College School of Nursing, Dobbs Ferry, NY, and a member of AJN 's editorial board. Finn Dobkin is a research associate and Katherine Webster is an institute associate at Fitzhugh Mullan Institute for Health Workforce Equity at George Washington University, Washington, DC. Contact author: Kenya Beard, . The authors have disclosed no potential conflicts of interest, financial or otherwise.
New measures would focus on advancing health equity.
View Article and Find Full Text PDFPositioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.
BMJ Open
October 2022
Cummings School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Introduction: Despite the superior diagnostic performance of exome and genome sequencing compared with conventional genetic tests, evidence gaps related to clinical utility and cost effectiveness have limited their availability in routine clinical practice in many jurisdictions. To inform adoption and reimbursement policy, this protocol provides a chain of evidence approach to determining the diagnostic utility, clinical utility and cost-effectiveness of whole exome sequencing (WES) from seven medical genetic centres in two Canadian provinces.
Methods And Analysis: Using a multicentre observational cohort design, we will extract data specific to the pre-WES diagnostic pathway and 1-year post-WES medical management from electronic medical records for 650 patients with rare disease of suspected genetic aetiology who receive WES.
[Israel-centered antisemitism and the challenge of a non-antisemitic criticism of Israel: a mediation on the grounds of democratic theory].
Z Relig Ges Polit
May 2022
Institut für Politikwissenschaft, Universität Regensburg, Regensburg, Deutschland.
The important debate on Israel-centered antisemitism has currently reached an impasse. In order to contribute to the objectification of the academic and public discussion, this article proposes a differentiation between subjectively conscious and unconscious anti-semitic resentments and reformulates this distinction in terms of democratic theory. Against the background of a concept of democracy including the complex coexistence of unity and plurality in democratic societies as well as the fundamental tension between religion and popular sovereignty, it becomes available to reflect the state of Israel as a Jewish collective in a non-antisemitic way, while illustrating relevant aporias in the Middle East conflict at the same time.
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