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在初级保健中使用个人基因组数据:药物基因组学的生物信息学方法。

Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics.

机构信息

Coöperatie 4LifeSupport Europa u.a., 2321 JW Leiden, The Netherlands.

4MedBox, 2321 JW Leiden, The Netherlands.

出版信息

Genes (Basel). 2020 Nov 30;11(12):1443. doi: 10.3390/genes11121443.

DOI:10.3390/genes11121443
PMID:33266138
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7761137/
Abstract

One application of personalized medicine is the tailoring of medication to the individual, so that the medication will have the highest chance of success. In order to individualize medication, one must have a complete inventory of all current pharmaceutical compounds (a detailed formulary) combined with pharmacogenetic datasets, the genetic makeup of the patient, their (medical) family history and other health-related data. For healthcare professionals to make the best use of this information, it must be visualized in a way that makes the most medically relevant data accessible for their decision-making. Similarly, to enable bioinformatics analysis of these data, it must be prepared and provided through an interface for controlled computational analysis. Due to the high degree of personal information gathered for such initiatives, privacy-sensitive implementation choices and ethical standards are paramount. The Personal Genetic Locker project provides an approach to enable the use of personal genomic data in primary care. In this paper, we provide a description of the Personal Genetic Locker project and show its utility through a use case based on open standards, which is illustrated by the 4MedBox system.

摘要

个性化医疗的一个应用是针对个体定制药物,使药物有最大的成功机会。为了实现药物的个体化,必须拥有所有当前药物化合物的完整清单(详细的药物清单),结合药物遗传学数据集、患者的基因构成、他们的(医疗)家族史和其他与健康相关的数据。为了让医疗保健专业人员能够充分利用这些信息,必须以最有利于他们决策的方式将最相关的医学数据可视化。同样,为了能够对这些数据进行生物信息学分析,必须通过接口进行准备和提供,以便进行受控的计算分析。由于此类举措收集了高度的个人信息,因此隐私敏感的实施选择和道德标准至关重要。个人基因库项目提供了一种在初级保健中使用个人基因组数据的方法。在本文中,我们描述了个人基因库项目,并通过基于开放标准的用例展示了其实用性,该用例通过 4MedBox 系统进行说明。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e650/7761137/1ab4a041624c/genes-11-01443-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e650/7761137/1ab4a041624c/genes-11-01443-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e650/7761137/1ab4a041624c/genes-11-01443-g001.jpg

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本文引用的文献

1
SERIES: eHealth in primary care. Part 3: eHealth education in primary care.系列文章:初级保健中的电子健康。第 3 部分:初级保健中的电子健康教育。
Eur J Gen Pract. 2020 Dec;26(1):108-118. doi: 10.1080/13814788.2020.1797675.
2
Implementation of Pharmacogenetics in Primary Care: A Multi-Stakeholder Perspective.基层医疗中药物遗传学的实施:多利益相关者视角
Front Genet. 2020 Jan 31;11:10. doi: 10.3389/fgene.2020.00010. eCollection 2020.
3
Distributed learning on 20 000+ lung cancer patients - The Personal Health Train.2 万多名肺癌患者的分布式学习 - 个人健康训练。
改善处方:新加坡初级医疗保健中基于临床决策支持的药物基因组学检测的可行性研究。
Fam Pract. 2024 Aug 14;41(4):477-483. doi: 10.1093/fampra/cmac124.
4
FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?FHH 快速应用评估:质量审查流程如何帮助初级保健提供者为患者护理选择家庭健康史应用?
Genes (Basel). 2022 Aug 8;13(8):1407. doi: 10.3390/genes13081407.
5
Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data.开发全面的临床药物基因组学分析工作流程:来自 100 个全外显子测序数据的初步研究的经验教训。
Pharmacogenomics J. 2022 Dec;22(5-6):276-283. doi: 10.1038/s41397-022-00286-4. Epub 2022 Aug 13.
6
Biomarkers for Optimization and Personalization of Anti-TNFs in Pediatric Inflammatory Bowel Disease.用于优化和个性化治疗儿童炎症性肠病中抗 TNF 药物的生物标志物
Pharmaceutics. 2021 Oct 26;13(11):1786. doi: 10.3390/pharmaceutics13111786.
7
Pharmacogenomic Determinants of Interindividual Drug Response Variability: From Discovery to Implementation.药物基因组学决定个体间药物反应变异性:从发现到实施。
Genes (Basel). 2021 Mar 10;12(3):393. doi: 10.3390/genes12030393.
Radiother Oncol. 2020 Mar;144:189-200. doi: 10.1016/j.radonc.2019.11.019. Epub 2020 Jan 3.
4
SERIES: eHealth in primary care. Part 2: Exploring the ethical implications of its application in primary care practice.系列文章:初级保健中的电子健康。第 2 部分:探讨其在初级保健实践中的应用所涉及的伦理问题。
Eur J Gen Pract. 2020 Dec;26(1):26-32. doi: 10.1080/13814788.2019.1678958. Epub 2019 Oct 30.
5
SERIES: eHealth in primary care. Part 1: Concepts, conditions and challenges.系列:初级保健中的电子健康。第 1 部分:概念、条件和挑战。
Eur J Gen Pract. 2019 Oct;25(4):179-189. doi: 10.1080/13814788.2019.1658190. Epub 2019 Oct 10.
6
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8
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Clin Transl Med. 2019 May 2;8(1):17. doi: 10.1186/s40169-019-0233-x.
9
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J Empir Res Hum Res Ethics. 2018 Oct;13(4):371-382. doi: 10.1177/1556264618776613. Epub 2018 May 28.