生物医学分析与诊断的重大挑战与展望

Q. Cheng
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摘要

分析科学和生物传感对医学诊断的重要性已得到该领域相关人员的充分认识;最近由严重急性呼吸综合征相关冠状病毒2 (SARS-CoV-2)引起的全球大流行进一步将这一主题提升到全球最重要的地位和紧迫性(Lippi等,2020)。虽然由于世界各地医务人员和生物技术专家的英勇努力,疫情可能在不久的将来得到控制,但在可预见的未来,对更有效的医疗诊断的分析科学的研究兴趣无疑将继续存在。除了为检测和量化提供新角度的创新方案外,在应用于医学样品时,还需要对分析传感的状态和功效进行评估和重新评估。为了更广泛地讨论研究方向,评估整个领域的最新技术和重要趋势是很重要的。近年来,令人兴奋的技术发展推动了技术的准确性和敏感性,扩大了分析范围,超越了简单的生物标志物,提高了分析方法的可及性和适用性。此外,近年来,由于医疗保健领域的“大数据”运动,临床数据的深度和复杂性都在以惊人的速度增长。因此,分析科学中最突出的趋势之一似乎是应用人工智能和机器学习模型将患者的感知或成像标记与诊断相关联(Rajkomar et al., 2019)。最近的例子包括人工智能系统在诊断乳腺癌方面的表现比医生高出11% (McKinney等人,2020),以及一项使用成像生物标志物和预测模型快速诊断COVID-19的机器学习模型研究(Wynants等人,2020)。这种密集、复杂的信息积累方法还需要在处理信息的模型的复杂程度上扩大规模,以便获得相关的结果和知识。显然,医疗诊断技术进步的必要性始终存在,这在当前的大流行病中得到了体现。PCR和免疫测定等成熟技术继续为这种快速传播的疾病提供可靠的检测,与此同时,我们看到一波新方法从非常规领域推出,这些新方法正在塑造诊断发展的进程(质谱法、3D打印和CRISPR-Cas12等)。这一领域的挑战也暗示着一系列的机遇,我们将在本文中描述这些机遇。为了简洁起见,我们将把讨论组织成分析目标、技术发展和数据处理。
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Grand Challenges and Perspectives in Biomedical Analysis and Diagnostics
The importance of analytical sciences and biosensing to medical diagnosis has been well recognized by those involved in the field; the recent global pandemic due to severe acute respiratory syndrome-associated coronavirus 2 (SARS-CoV-2) has further elevated the topic to paramount worldwide prominence and urgency (Lippi et al., 2020). While the pandemic may be contained in the near future due to the heroic efforts of medical staff and biotechnologists around the world, the research interest in analytical sciences toward more efficient medical diagnosis will undoubtedly remain for the foreseeable future. Aside from innovative schemes that offer new angles for detection and quantification, evaluations and reevaluations of the state and efficacy of analytical sensing are also required when applied to medical samples. For a broader conversation of the directions of research, it is important to assess the state-of-the-art and significant trends across the field. There have been exciting technical developments in recent years that push forward the accuracy and sensitivity of techniques, expand the scope of analyses beyond simple biomarkers, and improve the accessibility and applicability of analytical methods. In addition, clinical data of increasing depth and complexity are gathered at an extraordinary pace in recent years due to “Big Data” movement in healthcare. Therefore, one of the most prominent trends in analytical science appears to be the application of artificial intelligence and machine learning models to correlate sensed or imaged markers from patients to diagnosis (Rajkomar et al., 2019). Recent examples include an artificial intelligence system that outperformed doctors by 11% in diagnosing breast cancers (McKinney et al., 2020), and a study of machine learning models that used imaging biomarkers and predictive models for rapid diagnosis of COVID-19 (Wynants et al., 2020). This dense, complex approach toward information accumulation also requires a scale-up in the sophistication of models by which the information is treated so that relevant outcomes and knowledge can be obtained. Clearly, the need for technical advances in medical diagnosis is ever-present, and this is manifested in the current pandemic. Mature technologies such as PCR and immunoassays continue to provide reliable tests for the rapidly spreading disease, while in the meantime we have seen a wave of new approaches rolling out of unconventional sectors that are shaping the course of diagnostic development (mass spectrometry, 3D printing, and CRISPR-Cas12, to name a few). The challenges in this field also suggest a range of opportunities, which we aim to describe in this Article. In the interest of brevity, we will organize the discussion into analysis targets, technological developments, and data processing.
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