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Critical Reviews in Clinical Laboratory... Mar 2019The daily operation of clinical laboratories will be drastically impacted by two disruptive technologies: automation and artificial intelligence (the development and use... (Review)
Review
The daily operation of clinical laboratories will be drastically impacted by two disruptive technologies: automation and artificial intelligence (the development and use of computer systems able to perform tasks that normally require human intelligence). These technologies will also expand the scope of laboratory medicine. Automation will result in increased efficiency but will require changes to laboratory infrastructure and a shift in workforce training requirements. The application of artificial intelligence to large clinical datasets generated through increased automation will lead to the development of new diagnostic and prognostic models. Together, automation and artificial intelligence will support the move to personalized medicine. Changes in pathology and clinical doctoral scientist training will be necessary to fully participate in these changes. KEYWORDS: Automation; artificial intelligence; deep learning; laboratory medicine.
Topics: Artificial Intelligence; Automation, Laboratory; Clinical Laboratory Services; Humans
PubMed: 30922144
DOI: 10.1080/10408363.2018.1561640 -
Molecular Genetics & Genomic Medicine Jun 2019The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of... (Review)
Review
The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics-based translational medicine mainly in the developed world. However, the development of such advances has been hampered in most parts of the developing world due to scarcity of resources and trained personnel. Genetics and genomic medicine are currently in the process of being integrated into the Sri Lankan health care system. These developments have taken place mainly due to the heightened awareness and increasing demands made by the public for provision of genetic diagnostic and therapeutic services in clinical care. Due to the exorbitant costs incurred in the maintenance of these services and the dearth of adequately trained manpower, only a few centers in the country, mainly in Universities or private sector, are currently engaged in providing these services to the public. This article aims to provide an overview of the genetics and genomic medicine services in Sri Lanka from its early developments to the current state.
Topics: Facilities and Services Utilization; Genetic Diseases, Inborn; Genetic Testing; Genetics, Medical; Humans; Sri Lanka
PubMed: 31106988
DOI: 10.1002/mgg3.744 -
European Journal of Human Genetics :... Jul 2023The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective... (Review)
Review
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Associated tissue fragility affects multiple organ systems, increasing the risk of blood vessel dissection and rupture, with potentially fatal consequences. The diagnosis of vEDS has improved with advances in genetic testing, however this is most often suspected following an acute event. We provide data on the clinical features of vEDS for 180 patients (full cohort) seen in our service with confirmed molecular diagnoses. Increased awareness of this rare condition will prompt genetic testing essential to confirm the diagnosis. Outcomes are improved by early diagnosis followed by appropriate management. Fragile connective tissues make invasive procedures potentially dangerous, particularly in an emergency setting. Lifestyle advice from a young age can help acceptance and understanding of the diagnosis and inform choices. There is currently limited evidence for the use of drug therapy to reduce vascular events. We report on the incidence of vascular events in 126 patients (statistical analysis cohort) in our care and the use of medication. Our retrospective data showed that those patients on a long-term angiotensin II receptor blocker and/or beta-blocker had fewer vascular events than those not on cardiac medication who received the same lifestyle and emergency care advice.
Topics: Humans; Ehlers-Danlos Syndrome, Type IV; Retrospective Studies; Ehlers-Danlos Syndrome; Genetic Testing; United Kingdom; Collagen Type III
PubMed: 36977837
DOI: 10.1038/s41431-023-01343-7 -
Indian Journal of Medical Microbiology 2016Diagnosis of gonorrhoea is an ongoing challenge. The organism is fastidious requiring meticulous collection and transport for successful cultivation. Asymptomatic... (Review)
Review
Diagnosis of gonorrhoea is an ongoing challenge. The organism is fastidious requiring meticulous collection and transport for successful cultivation. Asymptomatic infections are common which go undetected by conventional methods thereby leading to continued transmission and the risk of complications. The nucleic acid amplification tests, now increasingly used in developed countries, offer improved sensitivity compared to bacterial culture. However, these continue to suffer sequence related problems leading to false positive and false negative results. Further, these cannot be used for generation of data on antibiotic susceptibility because genetic markers of antibiotic resistance to recommended therapies have not been fully characterised. They are unaffordable in a setting like ours where reliance is placed on syndromic approach for sexually transmitted infection (STI) management. The use of syndromic approach has resulted in a considerable decline in the number of Neisseria gonorrhoeae isolates that have been cultured for diagnostic purposes. Many laboratories formerly doing so are no longer performing culture for gonococci, and the basic skills have been lost. There is a need to not only revive this skill but also adopt newer technologies that can aid in accurate diagnosis in a cost-effective manner. There is room for innovation that can facilitate the development of a point-of-care test for this bacterial STI.
Topics: Diagnostic Services; Diagnostic Tests, Routine; Gonorrhea; Humans; Neisseria gonorrhoeae
PubMed: 27080763
DOI: 10.4103/0255-0857.180278 -
Human Genetics Jun 2016In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast... (Review)
Review
In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician. Whole exome sequencing (WES) has become available as a diagnostic test performed in certified clinical laboratories. This has led to increased presence in the diagnostic marketplace, increased consumer awareness, and the question has been raised by various stakeholders to whether there is sufficient stringent regulation of WES and other NGS-based tests. We discuss the various WES services currently available in the marketplace, current regulation of WES as a laboratory developed test, the proposed FDA involvement in its oversight as well as the response of various laboratory groups that provide these diagnostic services. Overall, a rigorous process oversight and assessment of inter-lab reproducibility is strongly warranted for WES as it is used as a diagnostic test, but regulation should be mindful of the excessive administrative burden on academic and smaller diagnostic laboratories.
Topics: Diagnostic Tests, Routine; Exome; Genetic Testing; Genome, Human; High-Throughput Nucleotide Sequencing; Humans; Pathology, Molecular
PubMed: 27167135
DOI: 10.1007/s00439-016-1677-3 -
Nature Reviews. Genetics Apr 2018Developments in next-generation sequencing technologies have driven the clinical application of diagnostic tests that interrogate the whole genome, which offer the... (Review)
Review
Developments in next-generation sequencing technologies have driven the clinical application of diagnostic tests that interrogate the whole genome, which offer the chance to diagnose rare inherited diseases or inform the targeting of therapies. New genomic diagnostic tests compete with traditional approaches to diagnosis, including the genetic testing of single genes and other clinical strategies, for finite health-care budgets. In this context, decision analytic model-based cost-effectiveness analysis is a useful method to help evaluate the costs versus consequences of introducing new health-care interventions. This Perspective presents key methodological, technical, practical and organizational challenges that must be considered by decision-makers responsible for the allocation of health-care resources to obtain robust and timely information about the relative cost-effectiveness of the increasing numbers of emerging genomic tests.
Topics: Cost-Benefit Analysis; Genetic Testing; Genomics; High-Throughput Nucleotide Sequencing; Humans
PubMed: 29353875
DOI: 10.1038/nrg.2017.108 -
Consolidation of Clinical Microbiology Laboratories and Introduction of Transformative Technologies.Clinical Microbiology Reviews Mar 2020Clinical microbiology is experiencing revolutionary advances in the deployment of molecular, genome sequencing-based, and mass spectrometry-driven detection,... (Review)
Review
Clinical microbiology is experiencing revolutionary advances in the deployment of molecular, genome sequencing-based, and mass spectrometry-driven detection, identification, and characterization assays. Laboratory automation and the linkage of information systems for big(ger) data management, including artificial intelligence (AI) approaches, also are being introduced. The initial optimism associated with these developments has now entered a more reality-driven phase of reflection on the significant challenges, complexities, and health care benefits posed by these innovations. With this in mind, the ongoing process of clinical laboratory consolidation, covering large geographical regions, represents an opportunity for the efficient and cost-effective introduction of new laboratory technologies and improvements in translational research and development. This will further define and generate the mandatory infrastructure used in validation and implementation of newer high-throughput diagnostic approaches. Effective, structured access to large numbers of well-documented biobanked biological materials from networked laboratories will release countless opportunities for clinical and scientific infectious disease research and will generate positive health care impacts. We describe why consolidation of clinical microbiology laboratories will generate quality benefits for many, if not most, aspects of the services separate institutions already provided individually. We also define the important role of innovative and large-scale diagnostic platforms. Such platforms lend themselves particularly well to computational (AI)-driven genomics and bioinformatics applications. These and other diagnostic innovations will allow for better infectious disease detection, surveillance, and prevention with novel translational research and optimized (diagnostic) product and service development opportunities as key results.
Topics: Animals; Artificial Intelligence; Automation; Clinical Laboratory Services; Clinical Laboratory Techniques; Communicable Diseases; Humans
PubMed: 32102900
DOI: 10.1128/CMR.00057-19 -
Clinics in Laboratory Medicine Mar 2018The diagnostic laboratory is essential to patient care and to the achievement of health equity. Through the development of quality laboratories in settings burdened by... (Review)
Review
The diagnostic laboratory is essential to patient care and to the achievement of health equity. Through the development of quality laboratories in settings burdened by poverty and weak health systems, Partners In Health has demonstrated the critical contributions of clinical laboratories to the care of patients with HIV, tuberculosis, and cancer, among other conditions. The lessons learned through the organization's experience include the importance of well-trained and well-supported staff; reliable access to supplies, reagents, and diagnostic equipment; adequate facilities to provide diagnostic services; the integration of laboratories into networks of care; and accompaniment of the public health sector.
Topics: Capacity Building; Clinical Laboratory Services; Haiti; Humans; Neoplasms; Pathology; Rwanda; Tuberculosis
PubMed: 29412874
DOI: 10.1016/j.cll.2017.10.008 -
European Journal of Radiology Aug 2023Since 1989, hundreds of thousands of lives have been saved worldwide by the widespread use of screening mammography alongside new developments in breast cancer treatment...
Since 1989, hundreds of thousands of lives have been saved worldwide by the widespread use of screening mammography alongside new developments in breast cancer treatment [1]. The ability of screening mammography to detect cancer early, when treatment is most effective, is optimized when it is performed in the highest quality manner and accessed by all eligible candidates. Currently, worldwide, there are over 14 guidance documents for mammographic quality [2]. Some countries, such as the United Kingdom (UK), monitor quality through a national screening program. In the United States (US), where 39 million mammograms are performed annually [3], there is not a national screening program, but the federal government mandates minimum quality standards for the performance of mammography. Among a consortium of European countries, the European Reference Organisation for Quality Assured Breast Screening and Diagnostic Services (EUREF) promotes voluntary adherence to European mammography quality standards. Setting quality standards at national or international levels ensures the uniformity of practice and identifies substandard practices in need of improvement, ultimately maximizing the benefit of screening mammography.
Topics: Humans; United States; Female; Mammography; Breast Neoplasms; Mass Screening; Early Detection of Cancer; Europe; Quality Assurance, Health Care
PubMed: 37354771
DOI: 10.1016/j.ejrad.2023.110935 -
International Psychogeriatrics Apr 2022While early diagnosis of younger-onset dementia (YOD) is crucial in terms of accessing appropriate services and future planning, diagnostic delays are common. This study...
OBJECTIVES
While early diagnosis of younger-onset dementia (YOD) is crucial in terms of accessing appropriate services and future planning, diagnostic delays are common. This study aims to identify predictors of delay to diagnosis in a large sample of people with YOD and to investigate the impact of a specialist YOD service on this time to diagnosis.
DESIGN
A retrospective cross-sectional study.
SETTING
The inpatient unit of a tertiary neuropsychiatry service in metropolitan Victoria, Australia.
PARTICIPANTS
People diagnosed with a YOD.
MEASUREMENTS AND METHODS
We investigated the following predictors using general linear modeling: demographics including sex and location, age at onset, dementia type, cognition, psychiatric diagnosis, and number of services consulted with prior to diagnosis.
RESULTS
A total of 242 inpatients were included. The mean time to diagnosis was 3.4 years. Significant predictors of delay included younger age at onset, dementia type other than Alzheimer's disease (AD) and behavioral-variant frontotemporal dementia (bvFTD), and increased number of services consulted. These predictors individually led to an increased diagnostic delay of approximately 19 days, 5 months, and 6 months, respectively. A specialized YOD service reduced time to diagnosis by 12 months.
CONCLUSION
We found that younger age at onset, having a dementia which was not the most commonly occurring AD or bvFTD, and increasing number of services were significant predictors of diagnostic delay. A novel result was that a specialist YOD service may decrease diagnostic delay, highlighting the importance of such as service in reducing time to diagnosis as well as providing post-diagnostic support.
Topics: Age of Onset; Alzheimer Disease; Cross-Sectional Studies; Delayed Diagnosis; Diagnostic Services; Frontotemporal Dementia; Humans; Retrospective Studies
PubMed: 32854788
DOI: 10.1017/S1041610220001489