呼吁提高药物基因检测的包容性和全球代表性。

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2024-02-22 DOI:10.1038/s41525-024-00403-1

April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah K Jobling, Raymond H Kim, Tamorah Lewis, Iris Cohn

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引用次数: 0

摘要

商业药物基因检测面板仅能捕捉到药物代谢和不良反应易感性基因变异的一小部分。在这项研究中，我们比较了全基因组测序（WGS）检测到的六种药物基因的变异，并对 308 名有小儿心脏病家族史的人进行了有针对性的商业检测。在 1% 的队列中，WGS 发现了罕见变异，这些变异改变了对代谢状态的解释，从而避免了基于基因的用药中可能出现的错误。

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A call for increased inclusivity and global representation in pharmacogenetic testing.

Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified rare variants that altered the interpretation of metabolizer status and would thus prevent potential errors in gene-based dosing.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.