Suppr超能文献

从分子肿瘤学委员会DNA测序数据中返回具有临床可操作性的药物遗传学结果:工作流程和估计成本

Return of Clinically Actionable Pharmacogenetic Results From Molecular Tumor Board DNA Sequencing Data: Workflow and Estimated Costs.

作者信息

Koo Hyunwoo, Smith Tayler B, Callaghan John T, Osei Wilberforce, Bray Steven M, Tillman Emma M, Tran Mya T, Fausel Christopher A, Schneider Bryan P, Shugg Tyler, Skaar Todd C

机构信息

Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Department of Pharmacy Practice, Purdue University College of Pharmacy, West Lafayette, Indiana, USA.

出版信息

Clin Pharmacol Ther. 2025 Apr;117(4):1017-1020. doi: 10.1002/cpt.3545. Epub 2025 Jan 9.

Abstract

Pharmacogenetic testing can prevent severe toxicities from several oncology drug therapies; it also has the potential to improve the outcomes from supportive care drugs. Paired tumor and germline sequencing is increasingly common in oncology practice; these include sequencing of pharmacogenes, but the germline pharmacogenetic variants are rarely included in the clinical reports, despite many being clinically actionable. We established an informatics workflow to evaluate the clinical sequencing results for pharmacogenetic variants. We used the Aldy computational tool, which we have previously shown to determine the variant alleles in 14 pharmacogenes in clinical sequencing data with >99% accuracy, to identify pharmacogenetic variants in the clinical whole exome sequencing from our molecular tumor board. Patients with genetic variants that are clinically actionable for their individual therapy programs, including both treatment and supportive care, are referred to a clinical pharmacogenetics testing laboratory for confirmation. Through an evaluation of our weekly informatics workflow, we determined it took approximately 3.25 hours to complete the analysis of the sequencing data from approximately 20 patients. Using a United States pharmacist's median salary, we estimated the incremental added cost of the process to be only ~$15 per patient. This adds only a minor increase to the patient's cost of testing and has the potential to improve the safety and efficacy of their treatment.

摘要

药物遗传学检测可预防多种肿瘤药物治疗引发的严重毒性反应;它还有望改善支持性护理药物的治疗效果。配对的肿瘤和种系测序在肿瘤学实践中越来越普遍;这些包括药物基因测序,但种系药物遗传学变异很少包含在临床报告中,尽管许多变异在临床上是可操作的。我们建立了一个信息学工作流程来评估药物遗传学变异的临床测序结果。我们使用了Aldy计算工具,我们之前已证明该工具能以>99%的准确率在临床测序数据中确定14种药物基因中的变异等位基因,以识别我们分子肿瘤委员会临床全外显子测序中的药物遗传学变异。对于其个体治疗方案(包括治疗和支持性护理)具有临床可操作性的基因变异患者,会被转介至临床药物遗传学检测实验室进行确认。通过对我们每周信息学工作流程的评估,我们确定完成对约20名患者测序数据的分析大约需要3.25小时。使用美国药剂师的中位数工资,我们估计该流程的增量额外成本仅为每位患者约15美元。这只会使患者的检测成本略有增加,并且有可能提高其治疗的安全性和有效性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa9/11924161/bda225ce5352/CPT-117-1017-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验