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Diagnostics
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Laboratory Medicine: Extended Roles in Healthcare Delivery
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Laboratory Medicine: Extended Roles in Healthcare Delivery

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".

Deadline for manuscript submissions: closed (28 February 2025) | Viewed by 18620

Special Issue Editor

Prof. Dr. Rousseau Gama

E-Mail Website1 Website2
Guest Editor
1. Clinical Chemistry, Black Country Pathology Services, Royal Wolverhampton Trust, Wolverhampton WV10 0QP, UK
2. School of Medicine and Clinical Practice, Wolverhampton University, Wolverhampton WV1 1LY, UK
Interests: pre-analytical phase; post-analytical phase, laboratory healthcare delivery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Laboratory Medicine is well recognized as pivotal to the diagnosis, exclusion and management of most disease processes. Laboratory medicine, however, should be much more than just a factory that produces precise, accurate quality-assured results. We, therefore, have selected reviews on the extended roles of laboratory medicine in healthcare delivery, machine learning, anaemia in pregnancy, point of care testing (POCT) in the community, and the concept of algorithm-based “intelligent testing”.

Data analytics, machine learning and artificial intelligence appear to possess the potential to transform laboratory medicine practice, but is this a realistic goal? Anaemia in pregnancy is multifactorial in origin and associated with increased maternal and perinatal morbidity and mortality. Does the laboratory have a meaningful role in uncovering the underlying cause, which is crucial to its management? Chronic kidney disease (CKD) is increasing in prevalence, in association with cardiovascular disease and end-stage renal disease. Does POCT provide access to difficult-to-engage populations to enable the optimization of CKD management and reduce or halt the progression of comorbidity and mortality? Liver function tests (liver profiles), although sensitive for the presence of liver disease, are non-specific. Is it possible for the laboratory to produce more meaningful data other than numbers with units attached? The selected reviews will update us on laboratory medicine and its transition into the next decade.

Prof. Dr. Rousseau Gama
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • anaemia
  • pregnancy
  • point of care
  • nearer patient tesing
  • chronic kidney disease (CKD)
  • machine learning
  • liver disease
  • liver function tests

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Published Papers (7 papers)

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Research

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11 pages, 219 KiB  
Article
Comparative Assessment of Risk and Turn-Around Time between Sequence-Based Typing and Next-Generation Sequencing for HLA Typing
by Jaehyun Cha, Mina Hur, Hanah Kim, Seunggyu Yun, Myunghyun Nam, Yunjung Cho and Minjeong Nam
Diagnostics 2024, 14(16), 1793; https://doi.org/10.3390/diagnostics14161793 - 16 Aug 2024
Viewed by 1073
Abstract
This study compared laboratory risk and turn-around time (TAT) between sequence-based typing (SBT) and next-generation sequencing (NGS) for human leukocyte antigen (HLA) typing. For risk assessment, we utilized the risk priority number (RPN) score based on failure mode and effect analysis (FMEA) and [...] Read more.
This study compared laboratory risk and turn-around time (TAT) between sequence-based typing (SBT) and next-generation sequencing (NGS) for human leukocyte antigen (HLA) typing. For risk assessment, we utilized the risk priority number (RPN) score based on failure mode and effect analysis (FMEA) and a risk acceptability matrix (RAM) according to the Clinical Laboratory Standards Institute (CLSI) guidelines (EP23-A). Total TAT was documented for the analytical phase, and hands-on time was defined as manual processes conducted by medical technicians. NGS showed a significantly higher total RPN score than SBT (1169 vs. 465). NGS indicated a higher mean RPN score, indicating elevated severity and detectability scores in comparison to SBT (RPN 23 vs. 12, p = 0.001; severity 5 vs. 3, p = 0.005; detectability 5 vs. 4, p < 0.001, respectively). NGS required a greater number of steps than SBT (44 vs. 25 steps), all of which were acceptable for the RAM. NGS showed a longer total TAT, total hands-on time, and hands-on time per step than SBT (26:47:20 vs. 12:32:06, 03:59:35 vs. 00:47:39, 00:05:13 vs. 00:01:54 hh:mm:ss, respectively). Transitioning from SBT to NGS for HLA typing involves increased risk and an extended TAT. This study underscored the importance of evaluating these factors to optimize laboratory efficiency in HLA typing. Full article
(This article belongs to the Special Issue Laboratory Medicine: Extended Roles in Healthcare Delivery)
11 pages, 1105 KiB  
Article
Whole-Exome Sequencing and Analysis of the T Cell Receptor β and γ Repertoires in Rheumatoid Arthritis
by Jooyoung Cho, Juwon Kim, Ju Sun Song, Young Uh, Jong-Han Lee and Hyang Sun Lee
Diagnostics 2024, 14(5), 529; https://doi.org/10.3390/diagnostics14050529 - 1 Mar 2024
Cited by 1 | Viewed by 1585
Abstract
This study investigated the potential genetic variants of rheumatoid arthritis (RA) using whole-exome sequencing (WES) and evaluated the disease course using T cell receptor (TCR) repertoire analysis. Fourteen patients with RA and five healthy controls (HCs) were enrolled. For the RA patient group, [...] Read more.
This study investigated the potential genetic variants of rheumatoid arthritis (RA) using whole-exome sequencing (WES) and evaluated the disease course using T cell receptor (TCR) repertoire analysis. Fourteen patients with RA and five healthy controls (HCs) were enrolled. For the RA patient group, only treatment-naïve patients were recruited, and data were collected at baseline as well as at 6 and 12 months following the initiation of the disease-modifying antirheumatic drug (DMARD) treatment. Laboratory data and disease parameters were also collected. Genetic variants were detected using WES, and the diversity of the TCR repertoire was assessed using the Shannon–Wiener diversity index. While some variants were detected by WES, their clinical significance should be confirmed by further studies. The diversity of the TCR repertoire in the RA group was lower than that in the HCs; however, after DMARD treatment, it increased significantly. The diversity was negatively correlated with the laboratory findings and disease measures with statistical significance. Variants with a potential for RA pathogenesis were identified, and the clinical significance of the TCR repertoire was evaluated in Korean patients with RA. Further studies are required to confirm the findings of the present study. Full article
(This article belongs to the Special Issue Laboratory Medicine: Extended Roles in Healthcare Delivery)
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Review

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17 pages, 459 KiB  
Review
Iron Deficiency Anaemia in Pregnancy: A Narrative Review from a Clinical Perspective
by Chidi Obianeli, Khaled Afifi, Simon Stanworth and David Churchill
Diagnostics 2024, 14(20), 2306; https://doi.org/10.3390/diagnostics14202306 - 17 Oct 2024
Cited by 3 | Viewed by 6293
Abstract
Anaemia in pregnancy is a global problem of significance in all settings. The most common cause is iron deficiency. Large numbers of women are affected, ranging up to 25–30% antenatally and 20–40% postnatally. It is associated with serious adverse outcomes for both the [...] Read more.
Anaemia in pregnancy is a global problem of significance in all settings. The most common cause is iron deficiency. Large numbers of women are affected, ranging up to 25–30% antenatally and 20–40% postnatally. It is associated with serious adverse outcomes for both the mother and her baby. The risk of low birth weight, preterm birth, postpartum haemorrhage, stillbirth, and neonatal death are all increased in the presence of anaemia. For the infants of affected pregnancies, complications may include neurocognitive impairment. Making an accurate diagnosis during pregnancy has its challenges, which include the choice of thresholds of haemoglobin below which a diagnosis of anaemia in each trimester of pregnancy can be made and, aligned with this question, which are the most appropriate biomarkers to use to define iron deficiency. Treatment with oral iron supplements increases the haemoglobin concentration and corrects iron deficiency. But high numbers of women fail to respond, probably due to poor adherence to medication, resulting from side effects. This has resulted in an increased use of more expensive intravenous iron. Doubts remain about the optimal regimen to of oral iron for use (daily, alternate days, or some other frequency) and the cost-effectiveness of intravenous iron. There is interest in strategies for prevention but these have yet to be proven clinically safe and effective. Full article
(This article belongs to the Special Issue Laboratory Medicine: Extended Roles in Healthcare Delivery)
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16 pages, 1205 KiB  
Review
Machine Learning for Patient-Based Real-Time Quality Control (PBRTQC), Analytical and Preanalytical Error Detection in Clinical Laboratory
by Nathan Lorde, Shivani Mahapatra and Tejas Kalaria
Diagnostics 2024, 14(16), 1808; https://doi.org/10.3390/diagnostics14161808 - 20 Aug 2024
Cited by 2 | Viewed by 2564
Abstract
The rapidly evolving field of machine learning (ML), along with artificial intelligence in a broad sense, is revolutionising many areas of healthcare, including laboratory medicine. The amalgamation of the fields of ML and patient-based real-time quality control (PBRTQC) processes could improve the traditional [...] Read more.
The rapidly evolving field of machine learning (ML), along with artificial intelligence in a broad sense, is revolutionising many areas of healthcare, including laboratory medicine. The amalgamation of the fields of ML and patient-based real-time quality control (PBRTQC) processes could improve the traditional PBRTQC and error detection algorithms in the laboratory. This narrative review discusses published studies on using ML for the detection of systematic errors, non-systematic errors, and combinations of different types of errors in clinical laboratories. The studies discussed used ML for detecting bias, the requirement for re-calibration, samples contaminated with intravenous fluid or EDTA, delayed sample analysis, wrong-blood-in-tube errors, interference or a combination of different types of errors, by comparing the performance of ML models with human validators or traditional PBRTQC algorithms. Advantages, limitations, the creation of standardised ML models, ethical and regulatory aspects and potential future developments have also been discussed in brief. Full article
(This article belongs to the Special Issue Laboratory Medicine: Extended Roles in Healthcare Delivery)
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13 pages, 1517 KiB  
Review
Community Point of Care Testing in Diagnosing and Managing Chronic Kidney Disease
by Rouvick Mariano Gama, Danilo Nebres and Kate Bramham
Diagnostics 2024, 14(14), 1542; https://doi.org/10.3390/diagnostics14141542 - 17 Jul 2024
Cited by 4 | Viewed by 2351
Abstract
Chronic kidney disease (CKD) poses a significant global health challenge with increasing prevalence and associated morbidity. Point-of-care testing (POCT) provides an opportunity to improve CKD management and outcomes through early detection and targeted interventions, particularly in underserved communities. This review evaluates the roles [...] Read more.
Chronic kidney disease (CKD) poses a significant global health challenge with increasing prevalence and associated morbidity. Point-of-care testing (POCT) provides an opportunity to improve CKD management and outcomes through early detection and targeted interventions, particularly in underserved communities. This review evaluates the roles of POCT in CKD, focusing on utility (through screening programs, monitoring of kidney function, and assessing participants on renally excreted medications), accuracy, and acceptability. Screening programs employing POCT have demonstrated promising outcomes, with improved rates of CKD diagnosis in groups with disparate health outcomes, offering a vital avenue for early intervention in high-risk populations. These have been conducted in rural and urban community or pharmacy settings, highlighting convenience and accessibility as important facilitators for participants. In addition, POCT holds significant promise in the monitoring of CKD, particularly in groups requiring frequent testing, such as kidney transplant recipients and patients on renin-angiotensin-aldosterone inhibitors. The consideration of the variable analytical performance of different devices remains crucial in assessing the utility of a POCT intervention for CKD. While the convenience and improved accessibility of home self-testing versus healthcare professional management is important, it must be balanced with acceptable levels of accuracy and precision to maintain patient and clinical confidence. Despite challenges including variability in accuracy and the user-friendliness of devices, patient feedback has generally remained positive, with studies reporting increased patient satisfaction and engagement. However, challenges regarding wider uptake are limited by healthcare professional confidence (in test reliability), the potential for increased workload, and early prohibitive costs. In conclusion, POCT represents a growing and valuable tool in enhancing CKD care, particularly in resource-limited settings, but careful consideration of device selection and implementation strategies is essential to achieve desired outcomes. Full article
(This article belongs to the Special Issue Laboratory Medicine: Extended Roles in Healthcare Delivery)
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15 pages, 1297 KiB  
Review
Intelligent Liver Function Testing (iLFT): An Intelligent Laboratory Approach to Identifying Chronic Liver Disease
by Jennifer Nobes, Damien Leith, Sava Handjiev, John F. Dillon and Ellie Dow
Diagnostics 2024, 14(9), 960; https://doi.org/10.3390/diagnostics14090960 - 4 May 2024
Cited by 1 | Viewed by 3066
Abstract
The intelligent Liver Function Testing (iLFT) pathway is a novel, algorithm-based system which provides automated laboratory investigations and clinical feedback on abnormal liver function test (LFT) results from primary care. iLFT was introduced to NHS Tayside, Scotland, in August 2018 in response to [...] Read more.
The intelligent Liver Function Testing (iLFT) pathway is a novel, algorithm-based system which provides automated laboratory investigations and clinical feedback on abnormal liver function test (LFT) results from primary care. iLFT was introduced to NHS Tayside, Scotland, in August 2018 in response to vast numbers of abnormal LFTs, many of which were not appropriately investigated, coupled with rising mortality from chronic liver disease. Here, we outline the development and implementation of the iLFT pathway, considering the implications for the diagnostic laboratories, primary care services and specialist hepatology clinics. Additionally, we describe the utility, outcomes and evolution of iLFT, which was used over 11,000 times in its first three years alone. Finally, we will consider the future of iLFT and propose areas where similar ‘intelligent’ approaches could be used to add value to laboratory investigations. Full article
(This article belongs to the Special Issue Laboratory Medicine: Extended Roles in Healthcare Delivery)
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Other

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5 pages, 5400 KiB  
Interesting Images
Candidemia in an Orthopedic Patient Detected Coincidentally by Peripheral Blood Smear
by Eirini Spatha, Loredana-Mariana Gheorghe, Ioulia Chaliori, Nikolaos J. Tsagarakis, Nikolaos Patsiogiannis and Sofia K. Chaniotaki
Diagnostics 2024, 14(22), 2597; https://doi.org/10.3390/diagnostics14222597 - 19 Nov 2024
Cited by 1 | Viewed by 918
Abstract
An elderly male, with a recent COVID-19 infection and cardiovascular comorbidities, experienced a prolonged hospitalization due to a periprosthetic joint infection (PJI) and bacteremia, post hip hemiarthroplasty. Despite the initial clinical improvement while on targeted antimicrobial therapy, the patient later developed a low-grade [...] Read more.
An elderly male, with a recent COVID-19 infection and cardiovascular comorbidities, experienced a prolonged hospitalization due to a periprosthetic joint infection (PJI) and bacteremia, post hip hemiarthroplasty. Despite the initial clinical improvement while on targeted antimicrobial therapy, the patient later developed a low-grade fever and signs of myelosuppression. In the May–Grünwald–Giemsa stain of peripheral blood smear (PBS), pseudohyphae among red blood cells (RBCs) and phagocytosed blastospores in neutrophils and monocytes were detected, indicating candidemia rather than contamination of the stain. Echinocandin treatment was immediately initiated, and Candida albicans was identified from the blood culture, using multiplex polymerase chain reaction (PCR). Despite the early initiation of antifungal therapy and the removal of the central venous line (CVL), the patient passed away within 24 h. Candidemia is a leading cause of nosocomial bloodstream infections with high morbidity and mortality and is associated with multiple risk factors including surgery, CVLs, prolonged hospitalization, concomitant bacterial infection, broad-spectrum antibiotics, and immunosuppression. Isolation from blood cultures remains the gold standard for diagnosing candidemia. Detection of candidemia by PBS is extremely rare, requires an experienced microscopist, and is considered to be an emergency. Clinical suspicion, early laboratory identification, and immediate clinician notification are crucial for prompt antifungal treatment. Full article
(This article belongs to the Special Issue Laboratory Medicine: Extended Roles in Healthcare Delivery)
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