Cytopathology is the Nexus for patient‐centered care

The genomic revolution has been facilitated by the convergence of minimally invasive diagnostic and therapeutic techniques, refinements in imaging and guided biopsy (particularly fine-needle aspiration biopsy), the development of whole genome sequencing, and the emergence of targeted therapies. Cytopathologists are the first responders from laboratories: they are educated to acquire, triage, and assess small biopsies and cell samples as substrates for molecular testing, next-generation sequencing, fluorescence in situ hybridization, immunohistochemistry, and genetic testing. Pathologists and cytopathologists are now integral to multidisciplinary care teams and have a voice in patient assessments for treatment plans. Cytopathologists who perform fine-needle aspiration biopsy (particularly ultrasound-guided biopsy) are at the direct interface with patients and are, of necessity, developing communication skills that incorporate empathy and compassion. Information transfer in the digital age has been complicated by information overload, a phenomenon that creates an opportunity for cytopathologists to become mentors in making sense of information (the process of information diffusion) and managing overload by serving as information professionals who guide learners to appropriate information resources. As cytopathologists migrate toward the center of patient care through interventional interfaces with patients, we become responsible for generating a complete, integrated report that moves information to patient portals on the Internet and to clinicians by secure digital delivery methods. With 70% of the medical record representing laboratory information, it is critical that pathologists take responsibility for its accuracy, display, and integration. This supplement, The Genomic Revolution: The Critical Role of Cytopathology in Patient-Centered Care and Personalized Medicine, was conceived to unite current research and procedural protocols with real-world clinical processes, from the clinical encounter with the patient to the quality assessment of the final report, and it is intended to provide an in-depth snapshot of why cytopathology is essential and integral to patient-centered care in the genomic era. Dr. Edward J. Gutmann, working in the pathology department of the Dartmouth-Hitchcock Medical Center (Dartmouth's Geisel School of Medicine), addresses caring for the patient in the context of cytopathology: “The diagnoses we make via the conscientious applications of specialized knowledge” represent how we care, and “the right diagnosis communicated well to patient and clinician can light the route even as it establishes it.”1 Subliminally permeating his narrative exposition are the compassion and empathy that must characterize interactions with patients and communications with and about them. Caring implies and necessitates a culture of safety with metrics-based analysis of performance variation; root causes; error reporting, detection, and reduction; repair and adverse event management; and general quality initiatives. These issues are explored by Dr. Yael K. Heher, Dr. Yigu Chen, and Dr. Paul A. VanderLaan at Harvard's Beth Israel Deaconess Medical Center. Their contribution “focuses primarily on ‘proactive’ quality improvement, covering quality metric selection and monitoring and how to determine when to act on data outliers.”2 Thus, “Measuring and Assuring Quality Performance in Cytology: A Toolkit”2 brackets “Ships That Pass in the Night: The Cancer Cytopathologist and the Patient—Caring and Communication.”1 After the initial patient encounter, in “Specimen Acquisition: ROSEs, Gardeners, and Gatekeepers,”3 Dr. Adele Kraft at the Virginia Commonwealth University explores how the diagnostic process is initiated either with the classic approach to exfoliated cells or with pathologist-procured fine-needle aspiration biopsy samples as the substrate for sophisticated molecular testing in the genomic age. Kraft discusses the role of the cytotechnologist, rapid onsite evaluation, pathologist-performed fine-needle aspiration biopsy, and adjunctive telepathology for distance consultation. The next step is explicated by Dr. Gilda da Cunha Santos from the Cancer Clinical Research Unit at Princess Margaret Cancer Centre (Toronto, ON, Canada). Smears, cell blocks, cytospins, small biopsies, transport media, and cytobanking are in the spectrum of specimen handling in “Pre-Analytic Specimen Triage: Smears, Cell Blocks, Cytospins, Transport Media, and Cyto-Banking.”4 Santos concludes her review with “it is of utmost importance that the cytopathology community become familiar with the variables that can affect test results and embrace the goal of excellence in sample quality.” The emerging monumental genomic sphere of analytic inquiry can best be understood by a curated modular approach focusing selectively on high-demand, clinically relevant, and care-based advanced testing. A team from Harvard's Massachusetts General Hospital, guided by Dr. William Faquin, beautifully summarizes “Triage of the Indeterminate Thyroid Aspirate: What Are the Options for the Practicing Cytopathologist?”5 in an effort to manage the 15% to 30% of thyroid fine-needle aspiration specimens that are cytologically indeterminate. Their review provides a perspective on molecular testing endorsed by the American Thyroid Association Guidelines and supplemented by the noncommercial (in-house) application of BRAF, RAS, RET/PTC, and PAX8/PPARλ testing. Their story is updated with information on the reclassified encapsulated follicular variant of papillary thyroid carcinoma, which is now termed noninvasive follicular thyroid neoplasm with papillary-like nuclear features (or NIFTP). Dr. Maureen Zakowski at the Icahn School of Medicine at Mount Sinai and the Memorial Sloan Kettering Cancer Center reflects that oncologists who treat lung cancer are dependent on cytopathologists for the diagnosis and treatment of their patients. With modified classifications and revolutionary molecular and genetic profiling for exquisite subcategorization of pulmonary neoplasia, lung cancer has emerged as the prototypic model for personalized medicine. Zakowski underscores that “the proficiency required of today's cytologist includes recognizing the difference in cytology specimens between adenocarcinoma and squamous cell carcinoma, facilitating the testing of small samples of tumor for mutations such as EGFR and KRAS, ALK gene fusions, using mutation-specific antibodies, and applying fluorescent in situ hybridation (FISH) techniques to cytology.”6 This responsibility is both demanding and inspiring and is moving cytopathologists from the laboratory to the clinical arena and opening horizons for an expanded scope of practice for cytotechnologists. For this approach to be reliable, dependable, and effective, test validation specific to cytology samples is mandatory in the sequence after sample acquisition and optimization. To this end, Dr. Anna Berry, the director of molecular diagnostics at CellNetix and the scientific director of personalized medicine at the Swedish Cancer Institute (Seattle, Wash), discusses test validation and selected issues referable to cytology samples for immunohistochemistry, in situ hybridization, nucleic acid amplification, and gene sequencing techniques.7 With combined expertise in cytopathology and molecular pathology, Berry's informed approach to these complex and sophisticated analyses provides the perspective required for this supplement to achieve its intent. When the cytopathology and ancillary evaluations are completed, there are defined post–analytic cytopathology responsibilities that signify process closure. Dr. Martha Bishop Pitman and Dr. Stephen Black-Schaffer at the Department of Pathology of Massachusetts General Hospital and Harvard Medical School describe these responsibilities, particularly as they affect the documentation and reporting phases of clinical fine-needle aspiration biopsy as preludes to personalized medicine and optimal patient care.8 Communication sequences are underscored, and they emphasize sensitivity regarding the empathetic transfer of information, respect for the clinician-patient relationship, and assurance that the patient, once informed of the diagnosis, will be transferred to the care or support of another responsible individual. The electronic heath care record is often the mediator/repository of critical information that influences patient care and outcomes, and it must be structured with accurate information and updates. A mechanism for follow-up is essential to optimal care, particularly for malignant and suspicious-for-malignancy diagnoses as well as atypias of undetermined significance. Emphasizing that communication among cytopathologists, care team members, and patients is a critical component of accurate and timely patient management, Pitman and Black-Schaffer underscore the cytopathology report as the vehicle for reaching the full potential for documenting lesions and characterizing the genomic and molecular aberrations that can inform customized treatment options. In this supplement, the role of information technology is within the domain of Dr. Liron Pantanowitz, professor of pathology and biomedical informatics at the University of Pittsburgh Medical Center. Pantanowitz advocates that “cytology laboratories with strong pathology informatics support are more likely to meet emerging genomic demands” because “the contemporary practice of cytopathology in the molecular era has become increasingly dependent on information technology.”9 His narrative covers the critical roles that laboratory information systems, electronic medical records, and digital imaging play in patient-centered personalized medicine, and it underscores the value of integrated diagnostic reports, clinical decision support, and whole-slide imaging. Cytology lives in a new world alive with transformative motion in a changing universe of discovery, where new galaxies, not simply the sky, are the limit. Propelled by innovative thinking that defies boundaries and by exceptional minds dedicated to a cytologic method that astonishingly exceeds what Papanicolaou, Koss, and other giants imagined, cytopathology is the driver, the benchmark, and the inspiration for personalized diagnosis and therapy. If the cell is the link to life, cytopathology may, in the final analysis, be the link to a world without disease.

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