From School of Life Sciences, Arizona State University and Mayo Clinic School of Medicine, Scottsdale (Dr Compton); Consulting Pathologist, Boca Raton, Florida (Dr Robb); Versiti Diagnostic Laboratories, Milwaukee, Wisconsin (Dr Anderson); Molecular Pathology and Genomics, Swedish Cancer Institute, Seattle, Washington (Dr Berry); Anatomic Pathology, Grady Health System, Atlanta, Georgia (Dr Birdsong); Advanced Genomic Services, Ambry Genetics, Aliso Viejo, California (Dr Bloom); Gynecologic & Breast Pathology, Joint Pathology Center, Silver Spring, Maryland (Dr Branton); the Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts (Dr Crothers); the Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha (Dr Cushman-Vokoun); IHC-ISH Laboratory and Breast Subspecialty Service, University of Rochester Medical Center, Rochester, New York (Dr Hicks); the Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston (Dr Khoury); the Department of Pathology and Laboratory Medicine, Northwell Health, New Hyde Park, New York (Dr Laser); the Department of Pathology, University of Colorado, Aurora (Dr Marshall); the Department of Pathology, Newton-Wellesley Hospital, Newton, Massachusetts (Dr Misialek); the Department of Pathology, Walter Reed National Military Medical Center, Bethesda, Maryland (Dr Natale); the Department of Pathology and Laboratory Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, New York (Dr Nowak); he Department of Pathology, Children's Hospitals and Clinics, Minneapolis, Minnesota (Dr Olson); the Department of Pathology, Washington University School of Medicine, St. Louis, Missouri (Dr Pfeifer); Lilly Research Labs, Eli Lilly and Company, Lilly Corporate Center, Indianapolis, Indiana (Dr Schade); he Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (Dr Vance); Medical & Scientific Affairs, Roche Tissue Diagnostics, Tucson, Arizona (Dr Walk); and Special Hematology MMC, University of Minnesota Medical Center, Minneapolis (Dr Yohe).
Arch Pathol Lab Med. 2019 Nov;143(11):1346-1363. doi: 10.5858/arpa.2019-0009-SA. Epub 2019 Jul 22.
Biospecimens acquired during routine medical practice are the primary sources of molecular information about patients and their diseases that underlies precision medicine and translational research. In cancer care, molecular analysis of biospecimens is especially common because it often determines treatment choices and may be used to monitor therapy in real time. However, patient specimens are collected, handled, and processed according to routine clinical procedures during which they are subjected to factors that may alter their molecular quality and composition. Such artefactual alteration may skew data from molecular analyses, render analysis data uninterpretable, or even preclude analysis altogether if the integrity of a specimen is severely compromised. As a result, patient care and safety may be affected, and medical research dependent on patient samples may be compromised. Despite these issues, there is currently no requirement to control or record preanalytical variables in clinical practice with the single exception of breast cancer tissue handled according to the guideline jointly developed by the American Society of Clinical Oncology and College of American Pathologists (CAP) and enforced through the CAP Laboratory Accreditation Program. Recognizing the importance of molecular data derived from patient specimens, the CAP Personalized Healthcare Committee established the Preanalytics for Precision Medicine Project Team to develop a basic set of evidence-based recommendations for key preanalytics for tissue and blood specimens. If used for biospecimens from patients, these preanalytical recommendations would ensure the fitness of those specimens for molecular analysis and help to assure the quality and reliability of the analysis data.
在常规医疗实践中获得的生物标本是精准医学和转化研究的基础，是关于患者及其疾病的分子信息的主要来源。在癌症治疗中，生物标本的分子分析尤其常见，因为它通常决定治疗选择，并且可以实时用于监测治疗。然而，患者标本是根据常规临床程序采集、处理和加工的，在此过程中，它们会受到可能改变其分子质量和组成的因素的影响。这种人为的改变可能会扭曲分子分析的数据，使分析数据无法解释，甚至如果标本的完整性严重受损，则完全无法进行分析。因此，患者的治疗和安全可能会受到影响，依赖患者样本的医学研究也可能受到影响。尽管存在这些问题，但目前在临床实践中并没有要求控制或记录分析前变量，只有一个例外，即根据美国临床肿瘤学会（ASCO）和美国病理学家协会（CAP）联合制定的指南处理乳腺癌组织时需要控制或记录变量，并且该指南通过 CAP 实验室认证计划强制执行。认识到患者标本中分子数据的重要性，CAP 个性化医疗委员会成立了精准医学分析前项目团队，为组织和血液标本的关键分析前项目制定了一套基本的基于证据的建议。如果将这些分析前建议用于患者的生物标本，将确保这些标本适合进行分子分析，并有助于确保分析数据的质量和可靠性。
