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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.
Influence of trust on the acceptance of the RTS,S malaria vaccine in the Kassena-Nankana districts of Ghana.
Malar J
November 2024
School of Public Health, University of Ghana, P. O. Box 65 LG, Legon, Ghana.
Article Synopsis
- * A study in the Kassena Nankana Districts involved 390 mothers and caregivers of young children, where questionnaires and interviews measured trust and knowledge of the RTS,S malaria vaccine, using software for data analysis.
- * Results showed that nearly all mothers (95.4%) were knowledgeable about the malaria vaccine, and 91.4% trusted it; factors affecting vaccine acceptance included education, ethnicity, and information sources.
The expanding diagnostic toolbox for rare genetic diseases.
Nat Rev Genet
June 2024
CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.
Genomic technologies, such as targeted, exome and short-read genome sequencing approaches, have revolutionized the care of patients with rare genetic diseases. However, more than half of patients remain without a diagnosis. Emerging approaches from research-based settings such as long-read genome sequencing and optical genome mapping hold promise for improving the identification of disease-causal genetic variants.
View Article and Find Full Text PDFProtocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.
Clin Ther
August 2023
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Purpose: Although costly, genome-wide sequencing (GWS) detects an extensive range of variants, enhancing our ability to diagnose and assess risk for an increasing number of diseases. In addition to detecting variants related to the indication for testing, GWS can detect secondary variants in BRCA1, BRCA2, and other genes for which early intervention may improve health. As the list of secondary findings grows, there is increased demand for surveillance and management by multiple specialists, adding pressure to constrained health care budgets.
View Article and Find Full Text PDFPrecision medicine in rare diseases: What is next?
J Intern Med
October 2023
Department of Molecular Medicine and Surgery and Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood as tailoring an individual's treatment, follow-up, and care based on molecular data. In rare diseases (RDs), molecular diagnoses reveal valuable information about the cause of symptoms, disease progression, familial risk, and in certain cases, unlock access to targeted therapies. Due to decreasing DNA sequencing costs, genome sequencing (GS) is emerging as the primary method for precision diagnostics in RDs.
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