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构建和优化精准医学的多平台精准途径。

Construction and optimization of multi-platform precision pathways for precision medicine.

机构信息

School of Mathematics and Statistics, The University of Sydney, Camperdown, NSW, Australia.

Charles Perkins Centre, The University of Sydney, Camperdown, NSW, Australia.

出版信息

Sci Rep. 2024 Feb 21;14(1):4248. doi: 10.1038/s41598-024-54517-8.

DOI:10.1038/s41598-024-54517-8
PMID:38378802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10879206/
Abstract

In the enduring challenge against disease, advancements in medical technology have empowered clinicians with novel diagnostic platforms. Whilst in some cases, a single test may provide a confident diagnosis, often additional tests are required. However, to strike a balance between diagnostic accuracy and cost-effectiveness, one must rigorously construct the clinical pathways. Here, we developed a framework to build multi-platform precision pathways in an automated, unbiased way, recommending the key steps a clinician would take to reach a diagnosis. We achieve this by developing a confidence score, used to simulate a clinical scenario, where at each stage, either a confident diagnosis is made, or another test is performed. Our framework provides a range of tools to interpret, visualize and compare the pathways, improving communication and enabling their evaluation on accuracy and cost, specific to different contexts. This framework will guide the development of novel diagnostic pathways for different diseases, accelerating the implementation of precision medicine into clinical practice.

摘要

在与疾病的持久斗争中,医学技术的进步使临床医生能够使用新型诊断平台。虽然在某些情况下,单一测试可能提供明确的诊断,但通常需要进行其他测试。然而,为了在诊断准确性和成本效益之间取得平衡,必须严格构建临床路径。在这里,我们开发了一个框架,以自动化、无偏倚的方式构建多平台精准路径,为临床医生推荐达成诊断所需采取的关键步骤。我们通过开发置信度得分来实现这一点,该得分用于模拟临床场景,在每个阶段,要么做出明确的诊断,要么进行另一个测试。我们的框架提供了一系列工具来解释、可视化和比较路径,从而改善沟通,并能够针对不同情况评估其在准确性和成本方面的效果。该框架将指导针对不同疾病的新型诊断路径的开发,加速精准医学在临床实践中的实施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/617f4065fcd3/41598_2024_54517_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/b25e1330a469/41598_2024_54517_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/7e5a454d10b8/41598_2024_54517_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/883e2f3ddc77/41598_2024_54517_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/8dec2e595b51/41598_2024_54517_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/617f4065fcd3/41598_2024_54517_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/b25e1330a469/41598_2024_54517_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/7e5a454d10b8/41598_2024_54517_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/883e2f3ddc77/41598_2024_54517_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/8dec2e595b51/41598_2024_54517_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac38/10879206/617f4065fcd3/41598_2024_54517_Fig5_HTML.jpg

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