Artificial Intelligence in the Clinical Laboratory
This article provides an overview of machine learning fundamentals and some applications of machine learning to clinical laboratory diagnostics and patient management. A key goal of this article is to provide a basic foundation in clinical machine learning for readers with clinical laboratory experience that will set them up for more in-depth study of the topic and/or to become a better collaborator with computational colleagues in the development and deployment of machine learning –based solutions. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - December 13, 2022 Category: Laboratory Medicine Authors: Jason M. Baron Source Type: research
Electronic Health Record Optimization for Artificial Intelligence
Laboratory clinical decision support (CDS) typically relies on data from the electronic health record (EHR). The implementation of a sustainable, effective laboratory CDS program requires a commitment to standardization and harmonization of key EHR data elements that are the foundation of laboratory CDS. The direct use of artificial intelligence algorithms in CDS programs will be limited unless key elements of the EHR are structured. The identification, curation, maintenance, and preprocessing steps necessary to implement robust laboratory-based algorithms must account for the heterogeneity of data present in a typical EHR...
Source: Clinics in Laboratory Medicine - December 13, 2022 Category: Laboratory Medicine Authors: Anand S. Dighe Source Type: research
Clinical Artificial Intelligence
Clinical artificial intelligence (AI)/machine learning (ML) is anticipated to offer new abilities in clinical decision support, diagnostic reasoning, precision medicine, clinical operational support, and clinical research, but careful concern is needed to ensure these technologies work effectively in the clinic. Here, we detail the clinical ML/AI design process, identifying several key questions and detailing several common forms of issues that arise with ML tools, as motivated by real-world examples, such that clinicians and researchers can better anticipate and correct for such issues in their own use of ML/AI techniques...
Source: Clinics in Laboratory Medicine - December 13, 2022 Category: Laboratory Medicine Authors: Matthew B.A. McDermott, Bret Nestor, Peter Szolovits Source Type: research
Opportunities and Challenges with Artificial Intelligence in Genomics
This article provides an overview of some current and future applications of artificial intelligence in genomic medicine, in addition to discussing challenges and considerations when bringing these tools into clinical practice. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - December 13, 2022 Category: Laboratory Medicine Authors: Danielle E. Kurant Source Type: research
Syndromic and Point-of-Care Molecular Testing
For decades, the clinical laboratory diagnosis of many infectious diseases relied solely on time-consuming and often labor-intensive manual cultivation-based, microscopic, and immunoserologic methods that required experienced technical personnel to perform and interpret. The introduction of semiautomated and fully automated microbial phenotyping systems in the later part of the 20th century vastly improved the processes of bacterial and yeast isolate workup by decreasing identification and antimicrobial susceptibility testing turnaround times (TATs); however, the detection of many viruses and parasites still required tradi...
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Ryan F. Relich, April N. Abbott Source Type: research
Building Evidence for Clinical Use of Pharmacogenomics and Reimbursement for Testing
In his 2015 State of the Union Address, former President Obama announced the Precision Medicine Initiative signaling continued United States government support toward individualized disease detection, prevention, and management strategies 1. Pharmacogenomics is one component of precision medicine and promises to optimize drug therapy through the incorporation of an individual’s genetic information in drug prescribing decisions. Genotype specifically influences pharmacokinetics and pharmacodynamics and allows for prediction of risk for adverse drug effects and likelihood of drug effectiveness. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Larisa H. Cavallari, Victoria M. Pratt Source Type: research
Replacement of Culture with Molecular Testing for Diagnosis Infectious Diseases
Despite significant advances in molecular testing platforms, in vitro cultivation of microbial pathogens on artificial media remains a hallmark of infectious disease diagnostics. Culture-based approaches allow for the recovery, identification, and antimicrobial susceptibility testing of a specific pathogen. However, there are many limitations to the use of cul ture. The growth of an organism can take days to weeks; definitive testing for identification can be performed only on pure culture or isolated colony, which may introduce additional delays; some organisms cannot be cultivated in vitro (eg, some viruses, parasites...
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Gerald A. Capraro Source Type: research
Next-Generation Sequencing Approaches to Predicting Antimicrobial Susceptibility Testing Results
One of the largest global public health crises is the increase of antimicrobial-resistant infections. Internationally, more than 700,000 people ( ∼23,000 Americans) die from antimicrobial-resistant infections annually. This number is projected to grow to 10 million deaths per year by 2050 1. Collective global action is required to face this threat and the promotion of novel, rapid diagnostics to reduce the unnecessary use of antimicrobials needs to be prioritized 1,2. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Rebecca Yee, Patricia J. Simner Source Type: research
Precision Medicine Using Pharmacogenomic Panel-Testing
Although drug treatment is often successful, adverse drug reactions (ADRs) and lack of efficacy present a significant burden for individual patients and society as a whole. ADRs are an important cause of emergency department visits and hospital admissions. A study in 2 large UK hospitals showed that 6.5% of hospital admissions were attributable to ADRs1. In the United States, ADR-related morbidity and mortality have been estimated at $30 billion to $136 billion annually2. In parallel, lack of efficacy also results in a significant burden. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Cathelijne H. van der Wouden, Henk-Jan Guchelaar, Jesse J. Swen Source Type: research
HLA Typing by Next-Generation Sequencing
The HLA region on chromosome 6p21 covers more than 224 annotated genes, covering a span of more than 3.6 megabases. Although that may seem large, it comprises less than 0.15% of the whole human genome1. This region has been one of the most studied regions of the human genome since its discovery2 and contains a plethora of genes that are crucial for immune cell function and regulation3,4. The major histocompatibility complex (MHC) class I molecules, encoded by HLA-A, HLA-B, and HLA-C, are used by nearly all cells in the human body to express endogenous proteins on their surface for immune cell surveillance5. (Source: Clinic...
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Caleb Cornaby, Eric T. Weimer Source Type: research
Applications of Noninvasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA
In 1997, the detection of male DNA in peripheral blood samples from women bearing male fetuses proved that fetal DNA circulates in maternal plasma and serum1. Circulating “fetal” cell-free DNA (cfDNA), which is mainly released from the placenta into maternal circulation, is used in noninvasive prenatal testing (NIPT). Currently, NIPT is primarily used to screen for 3 fetal aneuploidies, trisomy 21, trisomy 18, and trisomy 13, and its performance in detecting thes e has been well studied in both high-risk and low-risk populations2. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Jiale Xiang, Zhiyu Peng Source Type: research
The Role of the Human Gutome on Chronic Disease
The human gutome is a mosaic of nutrients, gut flora/bacteria, and genomic biomarkers that play a role in human health and disease1,2. One can look at the gutome in 2 distinct ways: the human gut microbiome and nutrigenomics. Nutrigenomics studies the influence and interaction of nutrition and genes and can facilitate understanding of nutrient consumption and genomic biomarkers that may lead to the development of nutrition-related diseases and metabolic syndromes1,3. The human gut microbiome is defined as the totality of microorganisms, bacteria, viruses, protozoa, and fungi, including their collective genetic material inh...
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Carrie C. Hoefer, Leah K. Hollon, Jennifer A. Campbell Source Type: research
Blood Group Genotyping
Red blood cell (RBC) antigens are inherited, intrinsic or adsorbed surface structures provoking specific humoral immune response. Historically, serologic —antibody-based and relatively unchanged since the early 20th century—assays imperfectly defined these antigens, at times hindering accurate phenotyping and compatible RBC transfusion and solid organ transplantation. Single-nucleotide variants (SNV), and less frequently structural variants, copy number variants or regulatory region variants encode RBC antigens. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Jensyn K. Cone Sullivan, Nicholas Gleadall, William J. Lane Source Type: research
Cell-free Nucleic Acids in Cancer
Histologic and cytologic evaluation of tissue and cells remains the mainstay of cancer diagnosis and assessment, though pathologists have long worked to develop novel and improved approaches. Indeed, many biopsy and tissue sampling protocols, new immunostains, and other molecular assays have been implemented over the years to improve cancer detection and management. Recent technologic advances have allowed the evaluation of genomic change in tumor-derived nucleic acids found in blood samples, opening the door to a potentially extremely impactful and minimally invasive method for the detection and characterization of cancer...
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Liron Barnea Slonim, Kathy A. Mangold, Mir B. Alikhan, Nora Joseph, Kalpana S. Reddy, Linda M. Sabatini, Karen L. Kaul Source Type: research
Review of SARS-CoV-2 Antigen and Antibody Testing in Diagnosis and Community Surveillance
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), identified as the cause of the coronavirus disease 2019 (COVID-19) global pandemic, is a single-stranded RNA virus belonging to the coronavirus family. It consists of structural spike proteins that interact with angiotensin-converting enzyme 2 receptors to infect host cells, nucleocapsid protein that encapsulates the RNA, and envelope protein that surrounds the nucleocapsid1. Commercially available antibody assays have predominantly been developed to target antibodies to either the spike or nucleocapsid proteins. (Source: Clinics in Laboratory Medicine)
Source: Clinics in Laboratory Medicine - November 9, 2022 Category: Laboratory Medicine Authors: Robert D. Nerenz, Jacqueline A. Hubbard, Mark A. Cervinski Source Type: research
