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以及澳大利亚维多利亚州商业抗抑郁药药物基因组学检测面板的变异覆盖情况。

and Variant Coverage of Commercial Antidepressant Pharmacogenomic Testing Panels Available in Victoria, Australia.

机构信息

The Institute for Mental and Physical Health and Clinical Translation (IMPACT), School of Medicine, Barwon Health, Deakin University, Geelong, VIC 3220, Australia.

Department of Psychiatry, University of Melbourne, Parkville, VIC 3050, Australia.

出版信息

Genes (Basel). 2023 Oct 16;14(10):1945. doi: 10.3390/genes14101945.

Abstract

Pharmacogenomic (PGx) testing to inform antidepressant medication selection and dosing is gaining attention from healthcare professionals, patients, and payors in Australia. However, there is often uncertainty regarding which test is most suitable for a particular patient. Here, we identified and evaluated the coverage of and variants in commercial antidepressant PGx testing panels in Victoria, a large and ethnically diverse state of Australia. Test characteristics and star alleles tested for both genes were obtained directly from pathology laboratories offering PGx testing and compared against the Association of Molecular Pathology's recommended minimum (Tier 1) and extended (Tier 2) allele sets. Although all tests covered the minimum recommended alleles for , this was not the case for . This study emphasizes that PGx tests might not be suitable for all individuals in Australia due to the limited range of star alleles assessed. Inadequate haplotype coverage may risk misclassification of an individual's predicted metabolizer phenotype, which has ramifications for depression medication selection and dosage. This study underscores the urgent need for greater standardization in PGx testing and emphasizes the importance of considering genetic ancestry when choosing a PGx testing panel to ensure optimal clinical applicability.

摘要

在澳大利亚,医疗保健专业人员、患者和支付方越来越关注基于药物基因组学(PGx)的检测,以辅助选择和调整抗抑郁药物剂量。然而,对于哪种检测最适合特定患者,往往存在不确定性。在这里,我们确定并评估了维多利亚州(澳大利亚一个面积大且民族多样的州)商业抗抑郁药 PGx 检测面板中 和 变体的覆盖情况。我们直接从提供 PGx 检测的病理实验室获取了这两个基因的检测特征和测试的主要等位基因,并将其与分子病理学协会推荐的最小(第 1 层)和扩展(第 2 层)等位基因集进行了比较。尽管所有测试都涵盖了 基因的最小推荐等位基因,但 基因并非如此。这项研究强调,由于评估的主要等位基因有限,PGx 检测可能并不适合澳大利亚的所有个体。如果没有充分涵盖单倍型,可能会错误分类个体的预测代谢表型,从而影响抗抑郁药物的选择和剂量。这项研究强调了在 PGx 检测中实现更大标准化的紧迫性,并强调在选择 PGx 检测面板时考虑遗传背景的重要性,以确保最佳的临床适用性。

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本文引用的文献

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Pharmacogenomics Beyond Single Common Genetic Variants: The Way Forward.超越单一常见遗传变异的药物基因组学:前进的道路。
Annu Rev Pharmacol Toxicol. 2024 Jan 23;64:33-51. doi: 10.1146/annurev-pharmtox-051921-091209. Epub 2023 Jul 28.
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Addressing Ancestry and Sex Bias in Pharmacogenomics.解决药物基因组学中的种族和性别偏见问题。
Annu Rev Pharmacol Toxicol. 2024 Jan 23;64:53-64. doi: 10.1146/annurev-pharmtox-030823-111731. Epub 2023 Jul 14.
3
The pharmacogenomic landscape of an Indigenous Australian population.澳大利亚原住民群体的药物基因组学概况。
Front Pharmacol. 2023 May 22;14:1180640. doi: 10.3389/fphar.2023.1180640. eCollection 2023.
7
Advancing CYP2D6 Pharmacogenetics through a Pharmacoequity Lens.从药物公平的角度推进 CYP2D6 药物遗传学。
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