Trivedi Harsha, Kling Heather M, Treece Tina, Audeh William, Srkalovic Gordan
Clinical Trials and Precision Medicine Dept., Herbert Herman Cancer Center, Sparrow Hospital, Lansing System, MI, USA.
Agendia, Inc., Irvine, CA, USA.
Acta Med Acad. 2019 Apr;48(1):6-17. doi: 10.5644/ama2006-124.238.
The current paper discusses the use of genomics in the context of the changing landscape of clinical practice and modern medicine. Medical practice has shifted considerably over the past few decades, from empirical to evidence-based to personalized medicine, and the transition from reliance on observation to measureable parameters. Scientific innovation is required to collect an ever-increasing number and variety of data points and sophisticated analyses capable of distilling vast datasets into meaningful information. The next phase of innovation seeks to personalize disease management, in particular through genomics in oncology. With expanding use of genomics in medicine, and several initiatives collecting genomic data at the population level, education of patients and physicians is critical for data utility. By combining genomic and clinical data, bioinformatics approaches can be applied to developing individualized or targeted therapies. Breast cancer provides an example through which to understand the evolution of genomic data from pure science to clinical utility. From intrinsic subtype classification to development of multigene panels estimating recurrence risk, new studies, such as the FLEX trial, will expand to evaluate the whole transcriptome of tumours. This approach will enable discovery of novel gene signatures and ultimately pave the way toward a personalized approach to breast cancer management. CONCLUSION: Despite the potential for genomics to personalize treatments, a number of challenges remain to fully integrate these types of large datasets in a manner that provides clinicians and patients with meaningful, actionable information. However, if challenges are addressed, precision medicine has the capacity to transform patient care.
本文讨论了基因组学在临床实践和现代医学不断变化的背景下的应用。在过去几十年里，医学实践发生了很大变化，从经验医学转向循证医学再到个性化医学，以及从依赖观察到依赖可测量参数的转变。需要科学创新来收集越来越多、种类繁多的数据点，并进行复杂的分析，以便能够将大量数据集提炼成有意义的信息。创新的下一阶段旨在实现疾病管理的个性化，特别是通过肿瘤学中的基因组学。随着基因组学在医学中的应用不断扩大，以及一些在人群层面收集基因组数据的举措，对患者和医生的教育对于数据的有效利用至关重要。通过整合基因组和临床数据，生物信息学方法可应用于开发个性化或靶向治疗。乳腺癌提供了一个例子，通过它可以了解基因组数据从纯科学到临床应用的演变。从内在亚型分类到开发估计复发风险的多基因检测板，新的研究，如FLEX试验，将扩展到评估肿瘤的整个转录组。这种方法将有助于发现新的基因特征，并最终为乳腺癌管理的个性化方法铺平道路。结论：尽管基因组学有实现治疗个性化的潜力，但要以一种为临床医生和患者提供有意义、可操作信息的方式全面整合这些类型的大型数据集，仍存在一些挑战。然而，如果这些挑战得到解决，精准医学有能力改变患者护理。
