药物基因组学在罕见疾病中的作用。

IF 4 2区 医学 Q1 PHARMACOLOGY & PHARMACY Drug Safety Pub Date : 2024-06-01 Epub Date: 2024-03-14 DOI:10.1007/s40264-024-01416-6
Alice Man, Gabriella S S Groeneweg, Colin J D Ross, Bruce C Carleton
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引用次数: 0

摘要

由于罕见病的普遍性和经常威胁生命的性质,罕见病已成为日益重要的公共卫生优先事项。为了促进罕见病疗法的开发,美国出台了《孤儿药物法案》等激励计划。虽然这些疗法的批准需要严格的上市前研究提供支持性数据,但这些数据缺乏描述治疗反应异质性原因的能力,导致药物往往比预测的更有害或更无效。如果用一条 "目标线 "来描述对药物产生反应的表型变异的多因素连续体,那么 "目标点 "或这一连续体的两个定义点将是:(1)超级反应,或非凡的治疗效果;以及(2)严重危害。对这两种极端表型背后的药物基因组学进行研究,有可能促进新疗法的开发,有助于为药物政策中的合理用药标准提供依据,并增进对潜在疾病病理生理学的了解。罕见病的队列规模较小,在这种情况下,"小数据 "和 "大数据 "相结合的数据收集和分析方法应能产生最可靠的结果。本文介绍了在研究罕见病药物反应的同时开展其他研究活动的重要性,以及在罕见病药物基因组学领域开展国际合作的必要性。
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The Role of Pharmacogenomics in Rare Diseases.

Rare diseases have become an increasingly important public health priority due to their collective prevalence and often life-threatening nature. Incentive programs, such as the Orphan Drug Act have been introduced to increase the development of rare disease therapeutics. While the approval of these therapeutics requires supportive data from stringent pre-market studies, these data lack the ability to describe the causes of treatment response heterogeneity, leading to medications often being more harmful or less effective than predicted. If a Goal Line were to be used to describe the multifactorial continuum of phenotypic variations occurring in response to a medication, the 'Goal Posts', or the two defining points of this continuum, would be (1) Super-Response, or an extraordinary therapeutic effect; and (2) Serious Harm. Investigation of the pharmacogenomics behind these two extreme phenotypes can potentially lead to the development of new therapeutics, help inform rational use criteria in drug policy, and improve the understanding of underlying disease pathophysiology. In the context of rare diseases where cohort sizes are smaller than ideal, 'small data' and 'big data' approaches to data collection and analysis should be combined to produce the most robust results. This paper presents the importance of studying drug response in parallel to other research initiatives in rare diseases, as well as the need for international collaboration in the area of rare disease pharmacogenomics.

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来源期刊
Drug Safety
Drug Safety 医学-毒理学
CiteScore
7.60
自引率
7.10%
发文量
112
审稿时长
6-12 weeks
期刊介绍: Drug Safety is the official journal of the International Society of Pharmacovigilance. The journal includes: Overviews of contentious or emerging issues. Comprehensive narrative reviews that provide an authoritative source of information on epidemiology, clinical features, prevention and management of adverse effects of individual drugs and drug classes. In-depth benefit-risk assessment of adverse effect and efficacy data for a drug in a defined therapeutic area. Systematic reviews (with or without meta-analyses) that collate empirical evidence to answer a specific research question, using explicit, systematic methods as outlined by the PRISMA statement. Original research articles reporting the results of well-designed studies in disciplines such as pharmacoepidemiology, pharmacovigilance, pharmacology and toxicology, and pharmacogenomics. Editorials and commentaries on topical issues. Additional digital features (including animated abstracts, video abstracts, slide decks, audio slides, instructional videos, infographics, podcasts and animations) can be published with articles; these are designed to increase the visibility, readership and educational value of the journal’s content. In addition, articles published in Drug Safety Drugs may be accompanied by plain language summaries to assist readers who have some knowledge of, but not in-depth expertise in, the area to understand important medical advances.
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