Next-generation sequencing (NGS) is rapidly expanding into routine oncology practice. Genetic variations in both the cancer and inherited genomes are informative for hereditary cancer risk, prognosis, and treatment strategies. Herein, we focus on the clinical perspective of integrating NGS results into patient care to assist with therapeutic decision making. Five key considerations are addressed for operationalization of NGS testing and application of results to patient care as follows: (1) NGS test ordering and workflow design; (2) result reporting, curation, and storage; (3) clinical consultation services that provide test interpretations and identify opportunities for molecularly guided therapy; (4) presentation of genetic information within the electronic health record; and (5) education of providers and patients. Several of these key considerations center on informatics tools that support NGS test ordering and referencing back to the results for therapeutic purposes. Clinical decision support tools embedded within the electronic health record can assist with NGS test utilization and identifying opportunities for targeted therapy including clinical trial eligibility. Challenges for project and change management in operationalizing NGS-supported, evidence-based patient care in the context of current information technology systems with appropriate clinical data standards are discussed, and solutions for overcoming barriers are provided.
BACKGROUND: In subsets of pediatric cardiac surgery patients, red blood cells (RBCs) are often washed to reduce extracellular potassium (K) to avoid hyperkalemia, but mechanical manipulation and time delay in issuing washed products may increase hemolysis and K. This study's purpose was to evaluate the quality of washed RBCs with regard to hemolysis and extracellular K using different cell washers as a function of postprocessing time. STUDY DESIGN AND METHODS: Fresh (<4 days old) RBCs were washed on COBE 2991 blood cell processors (Model 1 and Model 2) or the Fresenius Continuous AutoTransfusion System (CATS), and K and hemolysis index (HI) were analyzed. Academic pediatric hospitals were surveyed to ascertain practice trends regarding indications for washing, washing device, and expiration time for washed RBCs. RESULTS: K concentration at 24 hours for units washed with the COBE devices met or exceeded prewash values. At 12 hours, there was a significant difference (p < 0.001) in K concentration between all devices, with the CATS maintaining the lowest K concentration. HI increased immediately after wash on all devices and showed a significant difference between the COBE devices and CATS at times of more than 6 hours (p < 0.01). At storage times beyond 4 hours, hemoglobin exceeded 100 mg/dL on the COBE Model 1. Survey of pediatric hospitals indicated that COBE devices are commonly used, and storage time after washing was 12 hours or more in blood banks queried. CONCLUSIONS: Hemolysis levels vary among different cell washers. Decreasing the expiration time of units after washing may be warranted.
Abstract The vast wealth of medical data collected over the last decade holds great promise for accelerating novel research, discovery, and clinical translation. Specifically, the rapid expansion of genomic testing provides new opportunities for the clinical management of cancer patients, influencing diagnosis, risk stratification, and treatment planning. Moffitt Cancer Center's Personalized Medicine Clinical Service integrates next-generation sequencing test results into patient care, using the data to guide individualized treatment plans. To maximize the efficiency and efficacy of this service, creative solutions for data harmonization, storage, and management are required. We implemented a commercial molecular data warehouse (MDW), directly linked to our existing clinical data warehouse, to store and manage molecular data ranging from genotypic alterations to annotations from public resources (HUGO, COSMIC, Ensembl) and clinically actionable targets (4,256 records currently loaded). A centralized, cloud-based data and analytics platform is also being implemented at Moffitt that will integrate a broad range of multi-modal data. In the cloud environment, the data from the MDW will be linked to typically siloed data streams from the electronic health record, cancer registry management system, biospecimen management system, billing and scheduling systems, patient-reported information and outcomes, and patient-generated health data, creating a unique and customized Personalized Medicine Curated Data Mart (CDM). In addition to describing the features of the MDW and the challenges faced during its implementation, we will provide an overview of the extensive data cleaning and curation required to facilitate such a CDM. This includes the extraction of disease characteristics from unstructured clinical text via natural language processing, creation of new derived data fields, approaches to extracting and managing complex treatment data, and the inclusion of detailed, manually-abstracted recurrence and outcomes data for historical patients from existing institutional datasets such as the Clinical Genomics Action Committee (CGAC) database. Finally, we will present prototypes of analytics dashboards that will interface directly with our CDM, facilitating intuitive data exploration for all members of our personalized medicine teams. Citation Format: Rachel Howard, Kevin Hicks, Jamie Teer, Phillip Reisman, Mandy O'Leary, Steven Eschrich, Ross Mitchell, Howard McLeod, Dana Rollison. Facilitating personalized medicine with cloud-based storage and analytics [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 3226.
Cutaneous focal mucinosis has been rarely reported in association with follicular induction of the epidermis. We present 2 cases of focal mucinosis with follicular induction and describe the histopathologic findings to create awareness of this association and to prevent confusion with other diagnoses such as dermatofibroma with follicular induction or superficial basal cell carcinoma.
