Logistic analysis of delayed reporting of emergency blood potassium and comparison of improved outcomes.

Potassium testing is an essential test in emergency medicine. Turnaround time (TAT) is the time between specimen receipt by the laboratory and the release of the test report. A brief in-laboratory TAT increases emergency department effectiveness. Optimizing processes to shorten TAT using other tools requires extensive time, resources, training, and support. Therefore, we aimed to find a convenient way to shorten TAT, identify risk factors affecting the timeliness of emergency potassium test reporting, and verify the intervention's effects. The dependent variable was emergency potassium reporting time > 30 or < 30 min. Logistic analysis was performed on monitorable factors, such as sex, age, potassium results, number of items, specimen processing time (including centrifugation and time before specimen loading), critical value ratio, instrument status, shift where the report was issued, specimen status, and work experience, as independent variables. In the multivariate analysis, work experience, instrument failure rate, and specimen processing time were risk factors for emergency blood potassium reporting exceeding 30 min. Improvement measures were implemented, significantly decreasing the timeout rate for acute potassium reporting. Our study confirms the usefulness of logistics in reducing the time required to report potassium levels in the emergency department, providing a new perspective on quality management.

A response playbook for early detection and population surveillance of new SARS-CoV-2 variants in a regional public health laboratory.

BACKGROUND: Timely genomic surveillance is required to inform public health responses to new SARS-CoV-2 variants. However, the processes involved in local genomic surveillance introduce inherent time constraints. The Regional Innovative Public Health Laboratory in Chicago developed and employed a genomic surveillance response playbook for the early detection and surveillance of emerging SARS-CoV-2 variants. METHODS: The playbook outlines modifications to sampling strategies, laboratory workflows, and communication processes based on the emerging variant's predicted viral characteristics, observed public health impact in other jurisdictions and local community risk level. The playbook outlines procedures for implementing and reporting enhanced and accelerated genomic surveillance, including supplementing whole genome sequencing (WGS) with variant screening by quantitative PCR (qPCR). RESULTS: The ability of the playbook to improve the response to an emerging variant was tested for SARS-CoV-2 Omicron BA.1. Increased submission of clinical remnant samples from local hospital laboratories enabled detection of a new variant at an average of 1.4% prevalence with 95% confidence rather than 3.5% at baseline. Genotyping qPCR concurred with WGS lineage assignments in 99.9% of 1541 samples with results by both methods, and was more sensitive, providing lineage results in 90.4% of 1833 samples rather than 85.1% for WGS, while significantly reducing the time to lineage result. CONCLUSIONS: The genomic surveillance response playbook provides a structured, stepwise, and data-driven approach to responding to emerging SARS-CoV-2 variants. These pre-defined processes can serve as a template for other genomic surveillance programs to streamline workflows and expedite the detection and public health response to emerging variants. Based on the processes piloted during the Omicron BA.1 response, this method has been applied to subsequent Omicron subvariants and can be readily applied to future SARS-CoV-2 emerging variants and other public health surveillance activities.

Productivity Improvement in Pathology Laboratories Using Motion and Time Study Techniques.

OBJECTIVE: This study aimed to determine the standard time required for the performed job and to examine the standard job critically for productivity improvement in the pathology laboratory. MATERIAL AND METHODS: In this study that was conducted at a tertiary teaching hospital, observation, fishbone diagram, and flow charts were used to collect the information about the job process. All employees were observed from September 2017 to June 2018. The observations were recorded by video camera in order to overcome the Hawthorne effect. Nine basic procedure steps were followed for productivity improvement. RESULTS: Within the scope of the study, the jobs of `trimming tissue blocks` and `sectioning of tissue blocks` was selected. The standard time required was 0.19 minutes for `trimming tissue blocks` and 0.34 minutes for `sectioning of tissue blocks`. The procedure steps, named `Removal of tissue block` and `Fixing the block to the device`, were removed from the flow chart to define the improved method. The implementation of the improved method brought in a gain of 11.28 work days per year. CONCLUSION: It is obvious that the pathology laboratory needs to take certain measures to improve working conditions and increase efficiency. Our results demonstrate applying the study techniques could reduce the workload and processing time. This study also shows that the study techniques can be applied in the hospital laboratory. Incorporation of all pathology technicians in the change or innovation process will be important in maintaining the achievements.

Retrospective evaluation of clinical decision support for within-laboratory optimization of SARS-CoV-2 NAAT workflow.

The unprecedented demand for severe acute respiratory syndrome coronavirus 2 (SARS­CoV­2) testing led to challenges in prioritizing and processing specimens efficiently. We describe and evaluate a novel workflow using provider- and patient-facing ask at order entry (AOE) questions to generate distinctive icons on specimen labels for within-laboratory clinical decision support (CDS) for specimen triaging. A multidisciplinary committee established target turnaround times (TATs) for SARS-CoV-2 nucleic acid amplification test (NAAT) based on common clinical scenarios. A set of AOE questions was used to collect relevant clinical information that prompted icon generation for triaging SARS-CoV-2 NAAT specimens. We assessed the collect-to-verify TATs among relevant clinical scenarios. Our study included a total of 1,385,813 SARS-CoV-2 NAAT conducted from March 2020 to June 2022. Most testing met the TAT targets established by institutional committees, but deviations from target TATs occurred during periods of high demand and supply shortages. Median TATs for emergency department (ED) and inpatient specimens and ambulatory pre-procedure populations were stable over the pandemic. However, healthcare worker and other ambulatory test TATs varied substantially, depending on testing volume and community transmission rates. Median TAT significantly differed throughout the pandemic for ED and inpatient clinical scenarios, and there were significant differences in TAT among label icon-signified ambulatory clinical scenarios. We describe a novel approach to CDS for triaging specimens within the laboratory. The use of CDS tools could help clinical laboratories prioritize and process specimens efficiently, especially during times of high demand. Further studies are needed to evaluate the impact of our CDS tool on overall laboratory efficiency and patient outcomes. IMPORTANCE We describe a novel approach to clinical decision support (CDS) for triaging specimens within the clinical laboratory for severe acute respiratory syndrome coronavirus 2 (SARS­CoV­2) nucleic acid amplification tests (NAAT). The use of our CDS tool could help clinical laboratories prioritize and process specimens efficiently, especially during times of high demand. There were significant differences in the turnaround time for specimens differentiated by icons on specimen labels. Further studies are needed to evaluate the impact of our CDS tool on overall laboratory efficiency and patient outcomes.

Recording and Reporting of Antimicrobial Resistance (AMR) Priority Variables and Its Implication on Expanding Surveillance Sites in Nepal: A CAPTURA Experience.

Data on antimicrobial resistance (AMR) from sites not participating in the National AMR surveillance network, conducted by National Public Health Laboratory (NPHL), remain largely unknown in Nepal. The "Capturing Data on Antimicrobial Resistance Patterns and Trends in Use in Regions of Asia" (CAPTURA) assessed AMR data from previously untapped data sources in Nepal. A retrospective cross-sectional data review was carried out for the AMR data recorded between January 2017 and December 2019 to analyze AMR data from 26 hospital-based laboratories and 2 diagnostic laboratories in Nepal. Of the 56 health facilities initially contacted to participate in this project activity, 50.0% (28/56) signed a data-sharing agreement with CAPTURA. Eleven of the 28 hospitals were AMR surveillance sites, whereas the other 17, although not part of the National AMR surveillance network, recorded AMR-related data. Data for 663 602 isolates obtained from 580 038 patients were analyzed. A complete record of the 11 CAPTURA priority variables was obtained from 45.5% (5/11) of government hospitals, 63.6% (7/11) of private hospitals, and 54.6% (6/11) of public-private hospitals networked with NPHL for AMR surveillance. Similarly, 80% (8/10) of clinics and 54.6% (6/11) of laboratories outside the NPHL network recorded complete data for the 10 Global Antimicrobial Resistance and Use Surveillance System (GLASS) priority variables and 11/14 CAPTURA priority variables. Retrospective review of the data identified areas requiring additional resources and interventions to improve the quality of data on AMR in Nepal. Furthermore, we observed no difference in the priority variables reported by sites within or outside the NPHL network, thus suggesting that policies could be made to expand the surveillance system to include these sites without substantially affecting the government's budget.

Hundred-fold increase in SARS-CoV-2 spike antibody levels over three years in a hospital clinical laboratory.

IMPORTANCE: Despite the evolution of SARS-CoV-2 variants of concern and ongoing transmission, COVID-19 hospitalization and mortality rates continue to decline. Both the percent seropositive and antibody levels have risen over the past 3 years. Here, we observe more than 90% seropositivity as well as more than a hundred-fold increase in spike IgG levels in a tertiary hospital clinical immunology laboratory setting. Antibody effector functions (such as neutralization, opsonization, and complement activation) and cell-mediated immunity all contribute to protection from COVID-19 progression to hospitalization, and all correlate to the total SARS-CoV-2 antibody levels. We recommend therapeutic COVID-19 convalescent plasma be restricted to the top 20% of potential donors to maintain activity against ongoing SARS-CoV-2 variant evolution.

Serum CXCL8 and CXCR2 as diagnostic biomarkers for noninvasive screening of cervical cancer.

BACKGROUND: Cervical cancer (CC) is the fourth most frequently diagnosed cancer and the fourth leading cause of cancer-related death in women. Identifying new biomarkers for the early detection of CC is an essential requirement in this field. CXCL8 was originally discovered because of its role in inflammation by binding to CXCR1 and CXCR2; however, it is now known to play an important role in cancer. In this study, we aimed to evaluate the expression levels of potential biomarkers (CXCL8, CXCR1, and CXCR2) and to explore their diagnostic potential in CC. METHODS: The expression levels of serum CXCL8, CXCR1, and CXCR2 were investigated by kit method on Immulite-1000 in 30 healthy volunteers, 30 precancerous patients and 70 CC patients. RESULTS: The results indicated that the expression of CXCL8 and CXCR2 was significantly higher in the serum of CC patients than in healthy volunteers, similar to the well-established tumor marker (squamous-cell cancerantigen [SCC]). Receiver operating characteristic analyses showed that the combination of CXCL8, CXCR2, and SCC had the highest diagnostic sensitivity and area under the curve value. Meanwhile, the positive predictive value and negative predictive value were not very low. Moreover, high concentrations of CXCL8 and CXCR2 are associated with an increased risk of CC. CONCLUSIONS: In conclusion, our data demonstrated that combined serum CXCL8, CXCR2, and SCC measurements are helpful for CC diagnosis and can be used as potential biomarkers for the early detection of CC. Cytokines, such as CXCL8 and CXCR2, can be easily measured in most university hospital laboratories and in some private laboratories with a routine test.

An Innovative Workshop Embedding Pathology Service Users into the Undergraduate Biomedical Science Curriculum.

The integration of pathology service users into the biomedical science curriculum has been driven by the refinement of the Health and Care Professions Council (HCPC) Standards of Proficiency. This study aimed to design and implement a novel and innovative service user event with a reflective assessment to enhance students' knowledge and understanding of the impact of pathology laboratory results on the patient pathway. The 4-h workshop consisted of a series of service users. Patients discussed how pathology services had contributed to their diagnosis and treatment, while service providers-a Microbiology Consultant, a director of primary care, and the patient referral optimisation officer-discussed their roles and their interactions with pathology services. Post-event, students completed a 750-word reflective assessment, highlighting challenges experienced by service users and providing suggestions for improving the delivery of pathology services. In total, 57.5% of respondents (57/99) completed a post-reflection survey, which included open- and closed-ended questions. Quantitative analysis of the survey data revealed that over 87.7% of respondents had increased knowledge and understanding of the revised HCPC standards. Following the assessment, students reported a significant increase in their confidence with respect to reflective writing (p < 0.001), with over 90% of respondents agreeing that the reflective assessment had increased their knowledge and understanding of the limitations that may negatively impact service users and patient care. Moreover, respondents highlighted how advancements in point-of-care testing (POCT) and improvements in communication can improve patient experiences. Thematic analysis revealed that respondents agreed that embedding patients into the curriculum reinforced the importance of there being a patient behind every sample. Respondents reported that reflecting upon service user experiences enabled them to identify improvements to the delivery of pathology services while recognising the essential role that Biomedical Scientists play in the patient pathway. This successful workshop has created a platform encompassing a range of pathology service users in the undergraduate curriculum. We recommend that other accredited biomedical science programmes adopt and embed this innovative workshop and reflective assessment into their programmes to help them meet these standards relating to service users while fostering important transferable skills in their students.

Innovation, Automation and Informatics Improves Quality in Lerdsin Hospital, Thailand.

This paper describes a planned, continuous improvement journey, of a laboratory that has installed a system with a single sample touch from blood draw to result. To achieve this, physical connectivity of systems from phlebotomy through pre-analytical to the analytical phase were paired with informatics connectivity from the patient's national identity card to the hospital and laboratory informatics management systems (LIMS) and associated middleware. This allowed accurate time stamps to track turnaround time (TAT). TAT metrics were collected from the LIMS for inpatient, emergency room and outpatient samples and tests over a period of 7 months. This time span incorporated the 2-month period before automation was implemented. The results for all tests and specific tests are shown and the results of an analysis of the outpatient phlebotomy workflow are given. The implemented solution has improved outpatient TAT by over 54% and has shown that samples can be collected, and results obtained without touching the sample. Improving intra-laboratory TAT is an important quality goal for all laboratories. The implementation of automation is important in achieving this albeit more about obtaining predictable TAT. Automation does not necessarily improve TAT it removes variation which leads to predictable TAT (PTAT). Automation should only be considered with a strategic vision for the future as it is important to have clear goals and objectives based on the individual laboratories process and needs. Automating a poor process leads to an automated poor process. Here, an innovative use of automation, hardware and software has resulted in marked improvement in TAT across all samples processed in the central laboratory.

A Machine Learning Model for the Routine Detection of "Wrong Blood in Complete Blood Count Tube" Errors.

BACKGROUND: Current laboratory procedures may fail to detect wrong blood in tube (WBIT) errors. Machine learning models have the potential to improve WBIT error detection, as demonstrated by proof-of-concept studies. The models developed so far, however, are not appropriate for routine use because they are unable to handle missing values and have low positive predictive value (PPV). In this study, a machine learning model suitable for routine use was developed. METHODS: A model was trained and a preliminary evaluation performed on a retrospective data set of 135 128 current and previous patient complete blood count (CBC) results. The model was then applied prospectively to routine samples tested in a public hospital laboratory over a period of 22 weeks. Each week, the 5 samples identified by the model as most likely to be WBIT errors underwent further investigation by testing blood group and red cell phenotype. The study assessed the number of WBIT errors that were missed by current procedures but detected by the model, as well as the PPV of the model. RESULTS: The model was applied prospectively to 38 187 CBC results that had passed routine laboratory checks. One hundred and ten samples were identified for further testing and 12 WBIT errors were detected. The PPV of the model was 10.9%. CONCLUSION: A machine learning model suitable for routine use was able to identify WBIT errors missed by the laboratory's current procedures. Machine learning models are valuable for the identification of WBIT errors, and their validation and deployment in clinical laboratories would improve patient safety.

Determination of Complete Blood Count Reference Intervals by an Indirect Method for Newborns, Adults, and Geriatric Ages.

BACKGROUND: The availability of a reliable reference interval is crucial for clinical decision-making. Correctly defined reference intervals for different age groups are currently unavailable for many parameters. Our study aimed to determine the complete blood count reference intervals in our region from newborn to geriatric ages with an indirect method. METHODS: The study was carried out at Marmara University Pendik E&R Hospital Biochemistry Laboratory between January 2018 and May 2019 using the laboratory information system data. The complete blood count (CBC) measurements were performed by Unicel DxH 800 Coulter Cellular Analysis System (Beckman Coulter, FL, USA). A total of 14,014,912 test results belonging to infants, children, adolescents, adults, and geriatric ages were collected. We analyzed 22 CBC parameters, and an indirect method was used for reference interval determination. Data were analyzed according to the Clinical and Laboratory Standards Institute (CLSI) C28-A3 guideline for defining, establishing, and verifying reference intervals in the clinical laboratory. RESULTS: We have established reference intervals from newborn to geriatric ages for 22 hematology parameters [hemoglobin (Hb), hematocrit (Hct), red blood cell (RBC), mean red cell volume (MCV), mean red cell hemoglobin (MCH), mean red cell hemoglobin concentration (MCHC), red cell distribution width (RDW), white blood cell (WBC) count, WBC differentials, including percentages and absolute counts, platelet count, platelet distribution width (PDW), mean platelet volume (MPV) and plateletcrit (PCT)]. CONCLUSIONS: Our study showed that reference intervals established with data obtained from clinical laboratory databases are comparable to those created using direct methods.

Revisión del intervalo de referencia del recuento plaquetario: ¿son adecuados los valores que estamos utilizando? / Review of the platelet count reference range: are the values we are using appropriate?

Los intervalos de referencia (IR) dependen de la población y de las características metrológicas del procedimiento de medida utilizado. A pesar de las recomendaciones internacionales, son pocos los laboratorios que establecen sus propios IR para cada magnitud por la dificultad para conseguir voluntarios de referencia y el elevado costo económico asociado. La International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) acepta la adopción de IR bibliográficos o su cálculo por métodos indirectos dado su bajo costo y fácil obtención. Existen varias fuentes confiables de IR bibliográficos para el hemograma. No obstante, para el recuento plaquetario, es una práctica común de los laboratorios emplear el rango de valores de 150-450.109 /L independiente de la metodología utilizada y grupo etario. El objetivo de este trabajo fue revisar los IR bibliográficos disponibles para el recuento plaquetario y estimarlo empleando el método indirecto de Hoffmann a partir de nuestra población. Los métodos indirectos se basan en aplicar criterios de exclusión y cálculos matemáticos sobre los resultados de una base de datos de laboratorio. Nuestros IR para el recuento plaquetario se comparan con los bibliográficos, que han sido establecidos por técnicas de muestreo directo. Por este motivo y dado que no existen estudios poblacionales que lo avalen, sería apropiado reemplazar el rango de 150-450.109 / L. Estos límites podrían seguir empleándose como puntos de corte o niveles de decisión médica para definir, según la clínica y otros resultados de laboratorio, los pacientes que ameritan un seguimiento posterior (AU)

Reference ranges (RR) depend on the population and the metrological characteristics of the measurement procedure used. Despite international recommendations, few laboratories establish their own RRs for each magnitude because of the difficulty in obtaining reference volunteers and the associated high economic cost. The International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) accepts the use of literaturebased RRs or RRs calculated by indirect methods because of their low cost and easy collection. There are several reliable sources of literature-based RRs for the Cell Blood Count. However, for platelet count, it is common laboratory practice to use the range of 150-450,109 /L regardless of the methodology used and age group. The aim of this study was to review the available literature regarding RRs for platelet count and to establish it using the indirect Hoffmann method in our population. Indirect methods are based on applying exclusion criteria and mathematical calculations on the results of a laboratory database. Our RRs for platelet counts are compared with those in the literature, which have been established by direct sampling techniques. Therefore, and given that there are no population studies to support these findings, it would be appropriate to replace the 150-450,109 /L range. These limits may continue to be used as cut-off points or medical decision levels to define, according to clinical manifestations and other laboratory results, patients who warrant further follow-up (AU)

El valor de estar acreditados / The value of accreditation

Los laboratorios clínicos desempeñan un papel cada vez más central en el proceso de atención siendo líderes en el campo de la gestión de la calidad de la salud. Desde hace algunos años hay un creciente interés en la mejora de la calidad de aquellas actividades que tienen un alto impacto en la seguridad del paciente. En este contexto la acreditación constituye un recurso estratégico para garantizar un sistema de calidad. En el año 2020 el laboratorio obtiene la acreditación por norma IRAM ISO 15189, siendo el segundo laboratorio público acreditado por un estándar internacional en el país y el primero de un Hospital Pediátrico. Con un alcance inicial que involucra a las áreas de Química, Hematología, Serología, Endocrinología y Biología Molecular, continuamos trabajando para sostener y ampliar este alcance incluyendo entre otras, el área de Microbiología. Nuestra fortaleza más grande: el trabajo en equipo (AU)

Clinical laboratories play an increasingly central role in the care process and are leaders in the field of healthcare quality management. For some years now there has been a growing interest in improving the quality of those activities that have a high impact on patient safety. In this context, accreditation is a strategic resource to warrant the quality of the system. In 2020 the laboratory was granted accreditation by IRAM ISO 15189, being the second public laboratory accredited by an international standard in the country and the first in a pediatric hospital. With an initial coverage involving the areas of Chemistry, Hematology, Serology, Endocrinology, and Molecular Biology, we continue working to sustain and expand this coverage to include, among others, the area of Microbiology. Our greatest strength: teamwork (AU)

Gestión de calidad en equipos de gases en sangre POCT. Expandiendo las fronteras del laboratorio / Quality management in POCT blood gas equipment. Expanding the frontiers of the laboratory

La realización de pruebas de laboratorio en el lugar de atención del paciente (POCT) de equipos de gases en sangre representa un desafío continuo tanto para los usuarios como para el laboratorio. La vulnerabilidad al error y la amenaza del riesgo que rodea esta forma de trabajo obliga a establecer un sistema de trabajo robusto para la obtención de un "resultado confiable" cerca del paciente crítico. La formación de un grupo interdisciplinario, la capacitación de usuarios externos al laboratorio, el aseguramiento de la calidad analítica y la conectividad, son los cuatro pilares sobre los cuales se sostiene el éxito de esta nueva era de laboratorio clínico. Además es necesaria la reinvención de la imagen bioquímica, asumiendo un rol de líder, comunicador, asesor e integrado al sistema de salud (AU)

Point of care laboratory testing (POCT) with blood gas equipment is an ongoing challenge for both the users and the laboratory. The vulnerability to error and the threat of risk that surrounds this way of working necessitates the establishment of a robust working system to obtain "reliable results" for the critically ill patient. The creation of an interdisciplinary group, the training of external users, analytical quality assurance, and connectivity are the four pillars on which the success of this new era of clinical laboratories is based. It is also necessary to reinvent the biochemical image, assuming the role of leader, communicator, and advisor integrated into the health system (AU)

Uso de PCR digital para definir terapéuticas específicas y seguimiento en enfermedades autoinflamatorias / Use of digital PCR to define specific therapeutics and follow-up in autoinflammatory diseases

Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)

Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)

Adaptarnos para sobrevivir. Requerimientos de un nuevo paradigma / Adapting to survive. Requirements for a new paradigm

A lo largo de la historia, el rol del bioquímico en el laboratorio clínico ha ido mutando, adaptándose a nuevos paradigmas, consecuencia del avance de la tecnología1 y la informática, de la presión externa ejercida por las empresas proveedoras de reactivos que reducen el tiempo útil de los equipos, aumentando su tasa de recambio, de una medicina más compleja que impone nuevos desafíos diagnósticos y de los cambios sociales que se ven reflejados en una alteración en el orden de los valores adoptado por las nuevas generaciones de profesionales que conviven con otras, provocando "turbulencia generacional" en los lugares de trabajo. Los laboratorios necesitan hoy someterse a una reingeniería de sus procesos, descartar aquellos que no agreguen valor, que causan fugas innecesarias de insumos, personas y tiempo e intervenir la cultura organizacional de manera integral, para adaptarse a las exigencias que la actualidad requiere, donde la calidad, la seguridad y la sostenibilidad son los principales protagonistas )AU)

Over time, the role of the biochemist in the clinical laboratory has been changing, adapting to new paradigms, as a consequence of the advance of technology and informatics, of the external pressure exerted by the companies supplying reagents that reduce the useful time of the equipment, increasing its replacement rate, of a more complex medicine that imposes new diagnostic challenges, and of social changes that are reflected in an alteration in the values adopted by the new generations of professionals who coexist with others, causing "generational turbulence" in the workplace. Laboratories today need to reengineer their processes, eliminate those that do not add value, that cause unnecessary waste of supplies, people and time, and intervene in the organizational culture in a comprehensive manner, in order to adapt to the demands of today's world, where quality, safety, and sustainability are the main drivers (AU)

Implementación asistencial de estudios genómicos aplicados al diagnóstico molecular / Implementation of genomic studies applied to molecular diagnostics

El Hospital Garrahan ha sido pionero en el diagnóstico molecular de patologías pediátricas en Argentina. Los avances tecnológicos de las últimas décadas en el área de la biología molecular, sentaron las bases para la optimización y ampliación del diagnóstico molecular a partir de la secuenciación masiva en paralelo de múltiples genes. El presente trabajo describe el proceso de implementación de los estudios de secuenciación de nueva generación y el desarrollo de la Unidad de Genómica en un hospital público pediátrico de alta complejidad, así como su impacto en las capacidades diagnósticas de enfermedades poco frecuentes de origen genético. La creación del Grupo Interdisciplinario de Estudios Genómicos constituyó la vía institucional para la toma de decisiones que implican la implementación de nuevos estudios genómicos y el establecimiento de prioridades diagnósticas, extendiendo la disponibilidad del diagnóstico molecular a más disciplinas. La Unidad de Genómica trabaja en diseñar las estrategias que permitan la mayor optimización de los recursos con los que cuenta el hospital, teniendo en cuenta el equipamiento disponible, las prioridades establecidas y la frecuencia de las distintas patologías. Se demuestra el salto significativo operado en nuestras capacidades diagnósticas, tanto en la variedad de enfermedades como en el número de genes analizados, habiendo estudiado a la fecha alrededor de 2.000 pacientes, muchos de los cuales ven de este modo finalizada su odisea diagnóstica. Los estudios de NGS se han convertido en una herramienta de la práctica diaria para la atención de un número importante de pacientes de nuestro hospital. Continuaremos trabajando para ampliar su aplicación a la mayor cantidad de patologías, a través de los mecanismos institucionales ya existentes (AU)

The Garrahan Hospital has been a pioneer in the molecular diagnosis of pediatric diseases in Argentina. The technological advances of the last decades in the area of molecular biology have laid the foundations for the optimization and expansion of molecular diagnostics through massive parallel sequencing of multiple genes. This study describes the process of implementation of next-generation sequencing studies and the development of the Genomics Unit in a public pediatric tertiary hospital, and its impact on the capacity to diagnose rare diseases of genetic origin. The creation of the Interdisciplinary Group of Genomic Studies constituted the institutional pathway for decision-making involving the implementation of new genomic studies and the establishment of diagnostic priorities, extending the availability of molecular diagnostics to additional disciplines. The Genomics Unit is working to design strategies that allow for optimization of the resources available to the hospital, taking into account the equipment available, the priorities established, and the frequency of the different diseases. It demonstrates the significant leap in our diagnostic capabilities, both in the variety of diseases and in the number of genes analyzed. To date, around 2,000 patients have been studies, many of whom have thus completed their diagnostic odyssey. NGS studies have become a tool in daily practice for the care of a significant number of patients in our hospital. We will continue working to expand its application to as many diseases as possible, through the existing institutional mechanisms (AU)