Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy.
Department of Continuity of Care and Frailty, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili, Brescia, Italy.
Alzheimers Res Ther. 2024 May 11;16(1):107. doi: 10.1186/s13195-024-01474-z.
The recent development of techniques to assess plasma biomarkers has changed the way the research community envisions the future of diagnosis and management of Alzheimer's disease (AD) and other neurodegenerative disorders. This work aims to provide real world evidence on the clinical impact of plasma biomarkers in an academic tertiary care center.
Anonymized clinical reports of patients diagnosed with AD or Frontotemporal Lobar Degeneration with available plasma biomarkers (Aβ, Aβ/Aβ, p-tau, p-tau, NfL, GFAP) were independently assessed by two neurologists who expressed diagnosis and diagnostic confidence three times: (T0) at baseline based on the information collected during the first visit, (T1) after plasma biomarkers, and (T2) after traditional biomarkers (when available). Finally, we assessed whether clinicians' interpretation of plasma biomarkers and the consequent clinical impact are consistent with the final diagnosis, determined after the conclusion of the diagnostic clinical and instrumental work-up by the actual managing physicians who had complete access to all available information.
Clinicians assessed 122 reports, and their concordance ranged from 81 to 91% at the three time points. At T1, the presentation of plasma biomarkers resulted in a change of diagnosis in 2% (2/122, p = 1.00) of cases, and in increased diagnostic confidence in 76% (91/120, p < 0.001) of cases with confirmed diagnosis. The change in diagnosis and the increase in diagnostic confidence after plasma biomarkers were consistent with the final diagnosis in 100% (2/2) and 81% (74/91) of cases, respectively. At T2, the presentation of traditional biomarkers resulted in a further change of diagnosis in 13% (12/94, p = 0.149) of cases, and in increased diagnostic confidence in 88% (72/82, p < 0.001) of cases with confirmed diagnosis.
In an academic tertiary care center, plasma biomarkers supported clinicians by increasing their diagnostic confidence in most cases, despite a negligible impact on diagnosis. Future prospective studies are needed to assess the full potential of plasma biomarkers on clinical grounds.
评估血浆生物标志物技术的最新发展改变了研究界对阿尔茨海默病（AD）和其他神经退行性疾病诊断和管理未来的设想。这项工作旨在提供有关学术三级保健中心血浆生物标志物临床影响的真实世界证据。
对有可用血浆生物标志物（Aβ、Aβ/Aβ、p-tau、p-tau、NfL、GFAP）的 AD 或额颞叶变性患者的匿名临床报告，由两名神经病学家独立评估，他们在三个时间点（T0、T1 和 T2）三次表达诊断和诊断信心：（T0）在基线时，根据首次就诊时收集的信息；（T1）在血浆生物标志物之后；（T2）在传统生物标志物（有可用信息时）之后。最后，我们评估了临床医生对血浆生物标志物的解释以及随之而来的临床影响是否与最终诊断一致，该诊断是由实际管理医生在完成诊断性临床和仪器检查后确定的，他们可以完全访问所有可用信息。
临床医生评估了 122 份报告，他们的一致性在三个时间点分别为 81%至 91%。在 T1 时，血浆生物标志物的出现导致 2%（2/122，p=1.00）的病例诊断发生变化，并使 76%（91/120，p<0.001）的确诊病例诊断信心增加。在血浆生物标志物之后的诊断变化和诊断信心的增加与 100%（2/2）和 81%（74/91）的病例的最终诊断一致。在 T2 时，传统生物标志物的出现导致 13%（12/94，p=0.149）的病例诊断发生进一步变化，并使 88%（72/82，p<0.001）的确诊病例诊断信心增加。
在学术三级保健中心，血浆生物标志物通过增加大多数病例的诊断信心来支持临床医生，尽管对诊断的影响微不足道。未来的前瞻性研究需要从临床角度评估血浆生物标志物的全部潜力。
