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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 -
Advanced Science (Weinheim,... Feb 2023The clustered regularly interspaced short palindromic repeats (CRISPR)-based genetic screening has been demonstrated as a powerful approach for unbiased functional... (Review)
Review
The clustered regularly interspaced short palindromic repeats (CRISPR)-based genetic screening has been demonstrated as a powerful approach for unbiased functional genomics research. Single-cell CRISPR screening (scCRISPR) techniques, which result from the combination of single-cell toolkits and CRISPR screening, allow dissecting regulatory networks in complex biological systems at unprecedented resolution. These methods allow cells to be perturbed en masse using a pooled CRISPR library, followed by high-content phenotyping. This is technically accomplished by annotating cells with sgRNA-specific barcodes or directly detectable sgRNAs. According to the integration of distinct single-cell technologies, these methods principally fall into four categories: scCRISPR with RNA-seq, scCRISPR with ATAC-seq, scCRISPR with proteome probing, and imaging-based scCRISPR. scCRISPR has deciphered genotype-phenotype relationships, genetic regulations, tumor biological issues, and neuropathological mechanisms. This review provides insight into the technical breakthrough of scCRISPR by systematically summarizing the advancements of various scCRISPR methodologies and analyzing their merits and limitations. In addition, an application-oriented approach guide is offered to meet researchers' individualized demands.
Topics: Genomics; Genetic Testing
PubMed: 36504444
DOI: 10.1002/advs.202204484 -
Journal of Vascular Surgery Feb 2020Little is known about the public's knowledge of abdominal aortic aneurysms (AAA). Although preventive screening is available, millions of Americans remain unaware of...
OBJECTIVE
Little is known about the public's knowledge of abdominal aortic aneurysms (AAA). Although preventive screening is available, millions of Americans remain unaware of their risk. Improved health literacy has been associated with increased screening and improvement in health outcomes. This study assessed the level of AAA literacy among respondents who participated in a free AAA screening event.
METHODS
Thirteen key words used by vascular surgeons to describe the risk, diagnosis, and treatment options for AAA were extracted from the screening tool used by the nation's largest provider of free AAA diagnostic services, AAAneurysm Outreach. The National Institutes of Health recommends readability of patient education materials to be at the sixth-grade level, but a readability analysis of these words placed them at a grade level of 14.6. A self-administrated questionnaire was developed that allowed respondents to compare each of the extracted words with a definitionally correct or incorrect word that reflected a sixth-grade readability score. These scores were then compared with the available demographics.
RESULTS
There were 570 completed questionnaires. Of the participants, 57.6% were female, 61.4% were 60 and above, and 32.6% were veterans. The average number of correct answers was 9.31 out of 13 (72% correct). Only 4.7% answered all questions correctly, with 29.1% missing five or more answers. The most frequently missed words were asymptomatic, screening, and cholesterol (56.5%, 44%, and 41.4% incorrect, respectively). The most frequently known terms were abdominal, diagnosis, and genetic (96%, 95.3%, and 91.9% correct, respectively). The remaining words fell between these extremes. Those aged 60 and above scored significantly lower than younger respondents (P < .0001). A post hoc power analysis indicated that the power to detect the obtained effects of age at the .05 level was greater than 0.95. Gender and veteran status did not produce any significant differences.
CONCLUSIONS
These data suggest an important communication gap between the words used by clinicians to describe the risks, diagnostic results, and treatment options of AAA and the targeted at-risk population, especially those 60 years and older.
Topics: Aortic Aneurysm, Abdominal; Comprehension; Female; Health Literacy; Humans; Male; Mass Screening; Middle Aged; Retrospective Studies; Self Report; Terminology as Topic
PubMed: 31204214
DOI: 10.1016/j.jvs.2019.03.063 -
Neurobiology of Disease Jul 2020Advances in genomic science are informing an expansion of genetic testing for neurodegenerative diseases, which can be used for diagnostic and predictive purposes and... (Review)
Review
Advances in genomic science are informing an expansion of genetic testing for neurodegenerative diseases, which can be used for diagnostic and predictive purposes and performed in both medical and consumer genomics settings. Such testing-which is often for severe and incurable conditions like Huntington's, Alzheimer's, and Parkinson's diseases-raises important ethical and health communication challenges. This review addresses such challenges in the contexts of clinical, research, and direct-to-consumer genetic testing; these include informed consent, risk estimation and communication, potential benefits and psychosocial harms of genetic information (e.g., genetic discrimination), access to services, education and workforce needs, and health policies. The review also highlights future areas of likely growth in the field, including polygenic risk scores, use of genetic testing in clinical trials, and return of individual research results.
Topics: Genetic Predisposition to Disease; Genetic Testing; Health Communication; Humans; Neurodegenerative Diseases; Risk Factors
PubMed: 32302673
DOI: 10.1016/j.nbd.2020.104871 -
Orphanet Journal of Rare Diseases Dec 2021Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of... (Review)
Review
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy-based treatments and ongoing clinical studies. While advances in molecular diagnostic technologies have significantly improved the understanding of IRDs and identification of disease-causing variants, training in genetic diagnostics among ophthalmologists is limited. In this review, we will provide ophthalmologists with an overview of genetic testing for IRDs, including the types of available testing, variant interpretation, and genetic counseling. Additionally, we will discuss the clinical applications of genetic testing in the molecular diagnosis of IRDs through case studies.
Topics: Genetic Counseling; Genetic Testing; Humans; Mutation; Retina; Retinal Diseases; Retinal Dystrophies
PubMed: 34906171
DOI: 10.1186/s13023-021-02145-0 -
Genetics in Medicine : Official Journal... Jun 2022Interventions that decrease barriers and improve clinical processes can increase patient access to guideline-recommended cancer genetics services. We sought to identify... (Review)
Review
PURPOSE
Interventions that decrease barriers and improve clinical processes can increase patient access to guideline-recommended cancer genetics services. We sought to identify and describe interventions to improve patient receipt of guideline-recommended cancer genetics services in the United States.
METHODS
We performed a comprehensive search in Ovid MEDLINE and Embase, Scopus, and Web of Science from January 1, 2000 to February 12, 2020. Eligible articles reported interventions to improve the identification, referral, genetic counseling (GC), and genetic testing (GT) of patients in the United States. We independently screened titles and abstracts and reviewed full-text articles. Data were synthesized by grouping articles by clinical process.
RESULTS
Of 44 included articles, 17 targeted identification of eligible patients, 14 targeted referral, 15 targeted GC, and 16 targeted GT. Patient identification interventions included universal tumor testing and screening of medical/family history. Referral interventions included medical record system adaptations, standardizing processes, and provider notifications. GC interventions included supplemental patient education, integrated GC within oncology clinics, appointment coordination, and alternative service delivery models. One article directly targeted the GT process by implementing provider-coordinated testing.
CONCLUSION
This scoping review identified and described interventions to improve US patients' access to and receipt of guideline-recommended cancer genetics services.
Topics: Delivery of Health Care; Genetic Counseling; Genetic Testing; Humans; Mass Screening; Neoplasms; United States
PubMed: 35389342
DOI: 10.1016/j.gim.2022.03.002 -
Diagnosis (Berlin, Germany) Aug 2021Clinical laboratory testing provides essential data for making medical diagnoses. Generating accurate and timely test results clearly communicated to the treating... (Review)
Review
OBJECTIVES
Clinical laboratory testing provides essential data for making medical diagnoses. Generating accurate and timely test results clearly communicated to the treating clinician, and ultimately the patient, is a critical component that supports diagnostic excellence. On the other hand, failure to achieve this can lead to diagnostic errors that manifest in missed, delayed and wrong diagnoses.
CONTENT
Innovations that support diagnostic excellence address: 1) test utilization, 2) leveraging clinical and laboratory data, 3) promoting the use of credible information resources, 4) enhancing communication among laboratory professionals, health care providers and the patient, and 5) advancing the use of diagnostic management teams. Integrating evidence-based laboratory and patient-care quality management approaches may provide a strategy to support diagnostic excellence. Professional societies, government agencies, and healthcare systems are actively engaged in efforts to advance diagnostic excellence. Leveraging clinical laboratory capabilities within a healthcare system can measurably improve the diagnostic process and reduce diagnostic errors.
SUMMARY
An expanded quality management approach that builds on existing processes and measures can promote diagnostic excellence and provide a pathway to transition innovative concepts to practice.
OUTLOOK
There are increasing opportunities for clinical laboratory professionals and organizations to be part of a strategy to improve diagnoses.
Topics: Clinical Laboratory Services; Communication; Delivery of Health Care; Diagnostic Errors; Humans; Laboratories
PubMed: 33554526
DOI: 10.1515/dx-2020-0119 -
Ugeskrift For Laeger Mar 2021Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has... (Review)
Review
Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has enabled carrier screening for hundreds of genetic diseases (expanded carrier screening, ECS). I Denmark, each year estimated 100-180 children are born affected with a serious condition which could have been detected with ECS of the parents. This review describes the considerations and perspectives of a systematic genetic screening programme for prospective parents in the Danish healthcare system.
Topics: Child; Genetic Carrier Screening; Genetic Counseling; Genetic Testing; Humans; Parents; Prospective Studies
PubMed: 33829993
DOI: No ID Found -
European Journal of Human Genetics :... Feb 2022Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to... (Review)
Review
Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to inform patient management. More than 20 studies totalling over 1500 patients from diverse healthcare settings worldwide have now been published, forming a compelling evidence base for healthcare system implementation. We review the reported diagnostic and clinical outcomes, as well as broader evaluations of family and professional experiences, cost effectiveness, implementation challenges and bioethical issues arising from rapid testing. As rapid genomic testing transitions from the research to the healthcare setting to become a 'standard of care' test, there is a need to develop effective service delivery models to support scalability at both the laboratory and clinical level and promote equity of access, prompt test initiation, integrated multidisciplinary input and holistic family support. Harnessing the high level of professional engagement with rapid genomic testing programmes will continue to drive innovation and adoption, while close integration with emerging precision medicine approaches will be necessary to deliver on the promise of reduced infant and child mortality.
Topics: Child; Critical Illness; Delivery of Health Care; Genetic Testing; Humans; Infant; Infant, Newborn; Standard of Care
PubMed: 34744166
DOI: 10.1038/s41431-021-00990-y -
Autism Research : Official Journal of... Jul 2020Autism research is heavily skewed toward western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low-... (Review)
Review
Autism research is heavily skewed toward western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low- and middle-income settings where the majority of the global autism population lives. To date, a clear overview of the possible cultural and contextual factors that may affect the process of identifying and diagnosing individuals with autism spectrum disorders (ASD) is missing. This study aims to outline these factors by proposing a conceptual framework. A multidisciplinary review approach was applied to inform the development of the conceptual framework, combining a systematic review of the relevant autism research literature with a wider literature search spanning key texts in global mental health, cultural psychiatry, cross-cultural psychology, and intellectual disability research. The resulting conceptual framework considers the identification, help-seeking, and diagnostic process at four interrelated levels: (a) the expression; (b) recognition; (c) interpretation; and (d) reporting of autism symptoms, and describes the cultural and contextual factors associated with each of these levels, including cultural norms of typical and atypical behavior, culture-specific approaches to parenting, mental health literacy, cultural beliefs, attitudes and stigma, as well as the affordability, availability, accessibility, and acceptability of services. This framework, mapping out the cultural and contextual factors that can affect the identification, help-seeking, and diagnosis of ASD may function as a springboard for the development of culturally appropriate autism screening and diagnostic instruments, and inform future cross-cultural autism research directions. The framework also has relevance for clinicians and policy makers aiming to improve support for underserved autism populations worldwide. Autism Res 2020, 13: 1029-1050. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The vast majority of autism research is conducted in western high-income settings. We therefore know relatively little of how culture and context can affect the identification, help-seeking, and diagnosis of autism across the globe. This study synthesizes what is known from the autism research literature and a broader literature and maps out how culture and context may affect (a) the expression, (b) recognition, (c) interpretation, and (d) reporting of autism symptoms.
Topics: Autism Spectrum Disorder; Humans; Mass Screening; Parenting; Surveys and Questionnaires
PubMed: 32083402
DOI: 10.1002/aur.2276