Ramamurthy Lakshman
Regulatory Affairs, GRAIL, LLC, Washington, DC, USA.
CDRH/FDA, Washington, DC, USA.
Methods Mol Biol. 2025;2880:345-364. doi: 10.1007/978-1-0716-4276-4_18.
Genomic methods are a molecular window into the dysregulation of genes and how they may impact human health and disease. They vary widely in how they interrogate the genetic blueprint including epigenetic changes like DNA methylation, or gene expression. They have become variously available and accessible and have become standard methods in oncology or other diseases. This has led to applications of predictive claims for response or progression as companion diagnostics to anti-oncologic therapies or screening for disease whose symptoms are yet to present. The explosion of these technologies has led to renewed efforts by the US Food and Drug Administration to regulate molecular diagnostics. This chapter describes regulation of genomic diagnostics technologies, both for the innovator and the regulator alike.
基因组学方法是一扇分子窗口，可洞察基因失调及其对人类健康和疾病的影响。它们在探究遗传蓝图的方式上差异很大，包括DNA甲基化等表观遗传变化或基因表达。它们已变得越来越容易获得和使用，并已成为肿瘤学或其他疾病的标准方法。这导致了预测性声明在作为抗肿瘤疗法的伴随诊断或筛查尚未出现症状的疾病中的应用。这些技术的迅猛发展促使美国食品药品监督管理局重新努力对分子诊断进行监管。本章将介绍基因组诊断技术的监管情况，这对创新者和监管者来说都很重要。
