Publications by authors named "Francisco Santos-Gonzalez"

Background: Mass spectrometry-based quantitative proteomics has a demonstrated utility in increasing the diagnostic yield of mitochondrial disorders (MDs) and other rare diseases. However, for this technology to be widely adopted in routine clinical practice, it is crucial to accurately estimate delivery costs. Resource use and unit costs required to undertake a proteomics test were measured and categorized into consumables, equipment, and labor.

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Objective: To identify how value is defined in studies that focus on the value of molecular testing in cancer and the extent to which broadening the conceptualisation of value in healthcare has been applied in the molecular testing literature.

Methods: A scoping review was undertaken using Joanna Briggs Institute (JBI) guidance. Medline, Embase, EconLit and Cochrane Library were searched in August 2023.

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Bioassays were conducted under controlled conditions to determine the response of (J. E. Smith) larvae fed with corn materials expressing (Bt) insecticidal endotoxins: (1) VT Double Pro (VT2P) expressing Cry1A.

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Purpose: Rare disease genomic testing is a complex process involving various resources. Accurate resource estimation is required for informed prioritization and reimbursement decisions. This study aims to analyze the costs and cost drivers of clinical genomic testing.

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Introduction: Genomic testing is a relatively new, disruptive and complex health technology with multiple clinical applications in rare diseases, cancer and infection control. Genomic testing is increasingly being implemented into clinical practice, following regulatory approval, funding and adoption in models of care, particularly in the area of rare disease diagnosis. A significant barrier to the adoption and implementation of genomic testing is funding.

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Purpose: Microcosting can provide valuable economic evidence to inform the translation of genomic sequencing to clinical practice. A systematic literature review was conducted to identify studies employing microcosting methods to estimate the cost of genomic sequencing to diagnose cancer and rare diseases.

Methods: Four electronic databases, Medline, Embase, EconLit, and Cumulated Index to Nursing and Allied Health Literature were searched.

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