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Critical Reviews in Clinical Laboratory... Mar 2021Machine learning (ML) is gaining increased interest in clinical laboratory medicine, mainly triggered by the decreased cost of generating and storing data using... (Review)
Review
Machine learning (ML) is gaining increased interest in clinical laboratory medicine, mainly triggered by the decreased cost of generating and storing data using laboratory automation and computational power, and the widespread accessibility of open source tools. Nevertheless, only a handful of ML-based products are currently commercially available for routine clinical laboratory practice. In this review, we start with an introduction to ML by providing an overview of the ML landscape, its general workflow, and the most commonly used algorithms for clinical laboratory applications. Furthermore, we aim to illustrate recent evolutions (2018 to mid-2020) of the techniques used in the clinical laboratory setting and discuss the associated challenges and opportunities. In the field of clinical chemistry, the reviewed applications of ML algorithms include quality review of lab results, automated urine sediment analysis, disease or outcome prediction from routine laboratory parameters, and interpretation of complex biochemical data. In the hematology subdiscipline, we discuss the concepts of automated blood film reporting and malaria diagnosis. At last, we handle a broad range of clinical microbiology applications, such as the reduction of diagnostic workload by laboratory automation, the detection and identification of clinically relevant microorganisms, and the detection of antimicrobial resistance.
Topics: Algorithms; Clinical Laboratory Services; Humans; Laboratories; Machine Learning
PubMed: 33045173
DOI: 10.1080/10408363.2020.1828811 -
The Journal of Thoracic and... Jan 2022
Topics: Aorta, Thoracic; Aortic Aneurysm, Thoracic; Aortic Diseases; Early Diagnosis; Genetic Testing; Humans; Mass Screening; Medical History Taking; Preventive Health Services; Time-to-Treatment
PubMed: 33648726
DOI: 10.1016/j.jtcvs.2021.01.075 -
Clinical Chemistry and Laboratory... Mar 2023The EU Diagnostic Device Regulation (IVDR) aims for transparent risk-and purpose-based validation of diagnostic devices, traceability of results to uniquely identified... (Review)
Review
ISO 15189 is a sufficient instrument to guarantee high-quality manufacture of laboratory developed tests for in-house-use conform requirements of the European -Diagnostics Regulation.
The EU Diagnostic Device Regulation (IVDR) aims for transparent risk-and purpose-based validation of diagnostic devices, traceability of results to uniquely identified devices, and post-market surveillance. The IVDR regulates design, manufacture and putting into use of devices, but not medical services using these devices. In the absence of suitable commercial devices, the laboratory can resort to laboratory-developed tests (LDT) for in-house use. Documentary obligations (IVDR Art 5.5), the performance and safety specifications of ANNEX I, and development and manufacture under an ISO 15189-equivalent quality system apply. LDTs serve specific clinical needs, often for low volume niche applications, or correspond to the translational phase of new tests and treatments, often extremely relevant for patient care. As some commercial tests may disappear with the IVDR roll-out, many will require urgent LDT replacement. The workload will also depend on which modifications to commercial tests turns them into an LDT, and on how national legislators and competent authorities (CA) will handle new competences and responsibilities. We discuss appropriate interpretation of ISO 15189 to cover IVDR requirements. Selected cases illustrate LDT implementation covering medical needs with commensurate management of risk emanating from intended use and/or design of devices. Unintended collateral damage of the IVDR comprises loss of non-profitable niche applications, increases of costs and wasted resources, and migration of innovative research to more cost-efficient environments. Taking into account local specifics, the legislative framework should reduce the burden on and associated opportunity costs for the health care system, by making diligent use of existing frameworks.
Topics: Humans; Reagent Kits, Diagnostic; European Union; Clinical Laboratory Services
PubMed: 36716120
DOI: 10.1515/cclm-2023-0045 -
JAMA Network Open Aug 2022Delayed engagement in tuberculosis (TB) services is associated with ongoing transmission and poor clinical outcomes.
IMPORTANCE
Delayed engagement in tuberculosis (TB) services is associated with ongoing transmission and poor clinical outcomes.
OBJECTIVE
To assess whether patients with TB have differential preferences for strategies to improve the public health reach of TB diagnostic services.
DESIGN, SETTING, AND PARTICIPANTS
A cross-sectional study was undertaken in which a discrete choice experiment (DCE) was administered between September 18, 2019, and January 17, 2020, to 401 adults (>18 years of age) with microbiologically confirmed TB in Lusaka, Zambia. The DCE had 7 attributes with 2 to 3 levels per attribute related to TB service enhancements. Latent class analysis was used to identify segments of participants with unique preferences. Multiscenario simulations were used to estimate shares of preferences for different TB service improvement strategies.
MAIN OUTCOMES AND MEASURES
The main outcomes were patient preference archetypes and estimated shares of preferences for different strategies to improve TB diagnostic services. Collected data were analyzed between January 3, 2022, to July 2, 2022.
RESULTS
Among 326 adults with TB (median [IQR] age, 34 [27-42] years; 217 [66.8%] male; 158 [48.8%] HIV positive), 3 groups with distinct preferences for TB service improvements were identified. Group 1 (192 participants [58.9%]) preferred a facility that offered same-day TB test results, shorter wait times, and financial incentives for testing. Group 2 (83 participants [25.4%]) preferred a facility that provided same-day TB results, had greater privacy, and was closer to home. Group 3 (51 participants [15.6%]) had no strong preferences for service improvements and had negative preferences for receiving telephone-based TB test results. Groups 1 and 2 were more likely to report at least a 4-week delay in seeking health care for their current TB episode compared with group 3 (29 [51.3%] in group 1, 95 [35.8%] in group 2, and 10 [19.6%] in group 3; Pā<ā.001). Strategies to improve TB diagnostic services most preferred by all participants were same-day TB test results alone (shares of preference, 69.9%) and combined with a small financial testing incentive (shares of preference, 79.3%), shortened wait times (shares of preference, 76.1%), or greater privacy (shares of preference, 75.0%). However, the most preferred service improvement strategies differed substantially by group.
CONCLUSIONS AND RELEVANCE
In this study, patients with TB had heterogenous preferences for TB diagnostic service improvements associated with differential health care-seeking behavior. Tailored strategies that incorporate features most valued by persons with undiagnosed TB, including same-day results, financial incentives, and greater privacy, may optimize reach by overcoming key barriers to timely TB care engagement.
Topics: Adult; Cross-Sectional Studies; Diagnostic Services; Female; Humans; Male; Patient Preference; Tuberculosis; Zambia
PubMed: 36036933
DOI: 10.1001/jamanetworkopen.2022.29091 -
The Journal of Molecular Diagnostics :... Mar 2022Clinical laboratories offering genome sequencing have the opportunity to return pharmacogenomic findings to patients, providing the added benefit of preemptive testing...
Clinical laboratories offering genome sequencing have the opportunity to return pharmacogenomic findings to patients, providing the added benefit of preemptive testing that could help inform medication selection or dosing throughout the lifespan. Implementation of pharmacogenomic reporting must address several challenges, including inherent limitations in short-read genome sequencing methods, gene and variant selection, standardization of genotype and phenotype nomenclature, and choice of guidelines and drugs to report. An automated pipeline, lmPGX, was developed as an end-to-end solution that produces two versions of a pharmacogenomic report, presenting either Clinical Pharmacogenetics Implementation Consortium or US Food and Drug Administration guidelines for 12 genes. The pipeline was validated for performance using reference samples and pharmacogenetic data from the Genetic Testing Reference Materials Coordination Program. To determine performance and limitations, lmPGX was compared with three additional publicly available pharmacogenomic pipelines. The lmPGX pipeline offers clinical laboratories an opportunity for seamless integration of pharmacogenomic results with genome reporting.
Topics: Genetic Testing; Genotype; Humans; Pharmacogenetics; Pharmacogenomic Testing; Phenotype
PubMed: 35041930
DOI: 10.1016/j.jmoldx.2021.12.001 -
Clinical Chemistry Sep 2022
Topics: Direct-To-Consumer Screening and Testing; Genetic Testing; Humans
PubMed: 35971633
DOI: 10.1093/clinchem/hvac106 -
Critical Reviews in Clinical Laboratory... Dec 2021Disruptive innovation is an invention that disrupts an existing market and creates a new one by providing a different set of values, which ultimately overtakes the...
Disruptive innovation is an invention that disrupts an existing market and creates a new one by providing a different set of values, which ultimately overtakes the existing market. Typically, when disruptive innovations are introduced, their performance is initially less than existing standard technologies, but because of their ability to bring the cost down, and with gradual improvement, they end up replacing established service standards.Disruptive technologies have their fingerprints in health care. Pathology and laboratory medicine are fertile soils for disruptive innovations because they are heavily reliant on technology. Disruptive innovations have resulted in a revolution of our diagnostic ability and will take laboratory medicine to the next level of patient care. There are several examples of disruptive innovations in the clinical laboratory. Digitizing pathology practice is an example of disruptive technology, with many advantages and an extended scope of applications. Next-generation sequencing can be disruptive in two ways. The first is by replacing an array of laboratory tests, which each requires expensive and specialized instruments and expertise, with a single cost-effective technology. The second is by disrupting the current paradigm of the clinical laboratory as a diagnostic service by taking it into a new era of preventive or primary care pathology. Other disruptive innovations include the use of dry chemistry reagents in chemistry analyzers and also point of care testing. The use of artificial intelligence is another promising disruptive innovation that can transform the future of pathology and laboratory medicine. Another emerging disruptive concept is the integration of two fields of medicine to create an interrelated discipline such as "histogenomics and radiohistomics." Another recent disruptive innovation in laboratory medicine is the use of social media in clinical practice, education, and publication.There are multiple reasons to encourage disruptive innovations in the clinical laboratory, including the escalating cost of health care, the need for better accessibility of diagnostic care, and the increased demand on the laboratory in the era of precision diagnostics. There are, however, a number of challenges that need to be overcome such as the significant resistance to disruptive innovations by current technology providers and governmental regulatory bodies. The hesitance from health care providers and insurance companies must also be addressed.Adoption of disruptive innovations requires a multifaceted approach that involves orchestrated solutions to key aspects of the process, including creating successful business models, multidisciplinary collaborations, and innovative accreditation and regulatory oversight. It also must be coupled with successful commercialization plans and modernization of health care structure. Fostering a culture of disruptive innovation requires establishing unique collaborative models between academia and industry. It also requires uncovering new sources of unconventional funding that are open to high-risk high-reward projects. It should also be matched with innovative thinking, including new approaches for delivery of care and identifying novel cohorts of patients who can benefit from disruptive technology.
Topics: Artificial Intelligence; Clinical Laboratory Services; Delivery of Health Care; Humans; Laboratories; Laboratories, Clinical
PubMed: 34297653
DOI: 10.1080/10408363.2021.1943302 -
Psychiatry Research Jan 2024A number of congenital and inherited diseases present with both ocular and psychiatric features. The genetic inheritance and phenotypic variants play a key role in... (Review)
Review
A number of congenital and inherited diseases present with both ocular and psychiatric features. The genetic inheritance and phenotypic variants play a key role in disease severity. Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and improved prognosis. Typically, the associations between these two medical subspecialties of ophthalmology and psychiatry are poorly understood by most practitioners so we hope to provide a narrative review to improve the identification and management of these disorders. We conducted a comprehensive review of the literature detailing the diseases with ophthalmic and psychiatric overlap that were more widely represented in the literature. Herein, we describe the clinical features, pathophysiology, molecular biology, diagnostic tests, and the most recent approaches for the treatment of these diseases. Recent studies have combined technologies for ocular and brain imaging such as optical coherence tomography (OCT) and functional imaging with genetic testing to identify the genetic basis for eye-brain connections. Additional work is needed to further explore these potential biomarkers. Overall, accurate, efficient, widely distributed and non-invasive tests that can help with early recognition of these diseases will improve the management of these patients using a multidisciplinary approach.
Topics: Humans; Ophthalmology; Genetic Testing; Psychiatry
PubMed: 38029629
DOI: 10.1016/j.psychres.2023.115629 -
Laboratory Medicine Jul 2020To describe the perspective of grossing technology and highlight the prospective of its development in histology laboratory.
OBJECTIVE
To describe the perspective of grossing technology and highlight the prospective of its development in histology laboratory.
METHODS
Analysis of different components of grossing technology.
RESULTS
Increased requirements for a specimen's turnaround time and the advancements in modern processing equipment make the triage of workflow a significant part of a grossing person's responsibilities. The implementation of digital pathology in morphology studies practice requires standardization of fixation, the thickness of gross section, and optimal embedding orientation. To meet tomorrow's challenges, grossing technology should work on embedding automation and gross digital pathology to record gross sections corresponding the microscope slide. Specialization of grossing stations might be beneficial to the quality of processing and smooth workflow productivity. The emerging grossing technologist subspecialty requires development of a special training program.
CONCLUSION
Grossing technology can contribute to new challenges in modern histology laboratory, assuring high-quality microscope slides for the pathologist's diagnosis and research evaluation.
Topics: Automation, Laboratory; Clinical Laboratory Services; Cytodiagnosis; Humans; Pathology, Surgical
PubMed: 31875907
DOI: 10.1093/labmed/lmz081 -
PloS One 2022Information on laboratory test availability and current testing scope among general hospitals in Kenya is not readily available. We sought to explore the reporting...
INTRODUCTION
Information on laboratory test availability and current testing scope among general hospitals in Kenya is not readily available. We sought to explore the reporting trends and test availability within clinical laboratories in Kenya over a 24-months period through analysis of the laboratory data reported in the District Health Information System (DHIS2).
METHODS
Monthly hospital laboratory testing data were extracted from the Kenyan DHIS2 between January 2018 and December 2019. We used the national laboratory testing summary tool (MoH 706) to identify the tests of interest among 204 general hospitals in Kenya. A local practitioner panel consisting of individuals with laboratory expertise was used to classify the tests as common and uncommon. We compared the tests on the MoH 706 template with the Essential Diagnostic List (EDL) of the World Health Organisation and further reclassified them into test categories based on the EDL for generalisability of our findings. Evaluation of the number of monthly test types reported in each facility and the largest number of tests ever reported in any of the 24 months were used to assess test availability and testing scope, respectively.
RESULTS
Out of the 204 general hospitals assessed, 179 (179/204) reported at least one of the 80 tests of interest in any of the 24 months. Only 41% (74/179) of the reporting hospitals submitted all their monthly DHIS2 laboratory reports for the entire 24 months. The median testing capacity across the hospitals was 40% with a wide variation in testing scope from one hospital laboratory to another (% IQR: 33.8-51.9). Testing scope was inconsistent within facilities as indicated by often large monthly fluctuations in the total number of recommended and EDL tests reported. Tests of anatomical pathology and cancer were the least reported with 4 counties' hospitals not reporting any cancer or anatomical pathology tests for the entire 24 months.
CONCLUSION
The current reporting of laboratory testing information in DHIS2 is poor. Monitoring access and utilisation of laboratory testing across the country would require significant improvements in consistency and coverage of routine laboratory test reporting in DHIS2. Nonetheless, the available data suggest unequal and intermittent population access to laboratory testing provided by general hospitals in Kenya.
Topics: Diagnostic Services; Health Information Systems; Hospitals, General; Humans; Kenya; Laboratories
PubMed: 35395040
DOI: 10.1371/journal.pone.0266667