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Genetics in Medicine : Official Journal... Jan 2021To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.
PURPOSE
To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.
METHODS
We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia.
RESULTS
ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%).
CONCLUSION
In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.
Topics: Adult; Australia; Child; Exome; Genetic Testing; Humans; Kidney Diseases; Exome Sequencing
PubMed: 32939031
DOI: 10.1038/s41436-020-00963-4 -
Clinical Microbiology and Infection :... Sep 2018Despite the development of new microbiologic technologies, blood cultures (BCs) remain the first-line tool for the diagnosis of bloodstream infections. Their diagnostic... (Review)
Review
BACKGROUND
Despite the development of new microbiologic technologies, blood cultures (BCs) remain the first-line tool for the diagnosis of bloodstream infections. Their diagnostic value may be affected when a microorganism of questionable evidence is isolated-for example, coagulase-negative staphylococci, Bacillus spp., viridans group streptococci, Corynebacterium spp., Propionibacterium spp. and Micrococcus spp. Finally, making a correct diagnosis of pathogenicity (vs. contamination) is challenging.
AIMS
To review the current ways of dealing with the problem of BC contaminants (BCCs) and to provide practical suggestions to decrease BCC rates.
SOURCES
PubMed electronic databases and existing reviews were searched up to December 2017 to retrieve relevant publications related to the topic.
CONTENTS
This review describes the burden of BCC and analyses the main current issues and controversies in interpreting the occurrence of potential BC contaminants. It focuses on the best-described approaches to decide whether BCC is present and discusses the different strategies of prevention in adults.
IMPLICATIONS
Each institution should have an efficient policy to prevent BCC, emphasizing the importance of following guidelines for prescribing and collecting BCs. Training healthcare workers should focus on detrimental influence on patient care and highlight the work and costs due to contaminants. The accurate differentiation of a contaminant from a true pathogen relies on a multidisciplinary approach and the clinical judgement of experienced practitioners.
Topics: Bacteriological Techniques; Blood Culture; Clinical Laboratory Services; Health Personnel; Humans
PubMed: 29621616
DOI: 10.1016/j.cmi.2018.03.030 -
Epileptic Disorders : International... Oct 2022Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches...
Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledge and analysis platforms have begun to make clinical genetic testing accessible for, in principle, people of all ages with epilepsy. For this reason, the Genetics Commission of the International League Against Epilepsy (ILAE) presents this update on clinical genetic testing practice, including current techniques, indications, yield of genetic testing, recommendations for pre- and post-test counseling, and follow-up after genetic testing is completed. We acknowledge that the resources vary across different settings but highlight that genetic diagnostic testing for epilepsy should be prioritized when the likelihood of an informative finding is high. Results of genetic testing, in particular the identification of causative genetic variants, are likely to improve individual care. We emphasize the importance of genetic testing for individuals with epilepsy as we enter the era of precision therapy.
Topics: Diagnostic Techniques and Procedures; Epilepsy; Genetic Testing; Humans
PubMed: 35830287
DOI: 10.1684/epd.2022.1448 -
Swiss Medical Weekly 2015Overdiagnosis is the diagnosis of an abnormality that is not associated with a substantial health hazard and that patients have no benefit to be aware of. It is neither... (Review)
Review
Overdiagnosis is the diagnosis of an abnormality that is not associated with a substantial health hazard and that patients have no benefit to be aware of. It is neither a misdiagnosis (diagnostic error), nor a false positive result (positive test in the absence of a real abnormality). It mainly results from screening, use of increasingly sensitive diagnostic tests, incidental findings on routine examinations, and widening diagnostic criteria to define a condition requiring an intervention. The blurring boundaries between risk and disease, physicians' fear of missing a diagnosis and patients' need for reassurance are further causes of overdiagnosis. Overdiagnosis often implies procedures to confirm or exclude the presence of the condition and is by definition associated with useless treatments and interventions, generating harm and costs without any benefit. Overdiagnosis also diverts healthcare professionals from caring about other health issues. Preventing overdiagnosis requires increasing awareness of healthcare professionals and patients about its occurrence, the avoidance of unnecessary and untargeted diagnostic tests, and the avoidance of screening without demonstrated benefits. Furthermore, accounting systematically for the harms and benefits of screening and diagnostic tests and determining risk factor thresholds based on the expected absolute risk reduction would also help prevent overdiagnosis.
Topics: Asymptomatic Diseases; Defensive Medicine; Diagnostic Services; Early Detection of Cancer; Early Diagnosis; Ethics, Medical; Guidelines as Topic; Humans; Incidental Findings; Neoplasms; Physician-Patient Relations; Unnecessary Procedures
PubMed: 25612105
DOI: 10.4414/smw.2015.14060 -
Journal of Clinical Laboratory Analysis Jan 2018Organizing work flow is a major task of laboratory management. Recently, clinical laboratories have started to adopt methodologies such as Lean Six Sigma and some...
BACKGROUND
Organizing work flow is a major task of laboratory management. Recently, clinical laboratories have started to adopt methodologies such as Lean Six Sigma and some successful implementations have been reported. This study used Lean Six Sigma to simplify the laboratory work process and decrease the turnaround time by eliminating non-value-adding steps.
METHODS
The five-stage Six Sigma system known as define, measure, analyze, improve, and control (DMAIC) is used to identify and solve problems. The laboratory turnaround time for individual tests, total delay time in the sample reception area, and percentage of steps involving risks of medical errors and biological hazards in the overall process are measured.
RESULTS
The pre-analytical process in the reception area was improved by eliminating 3 h and 22.5 min of non-value-adding work. Turnaround time also improved for stat samples from 68 to 59 min after applying Lean. Steps prone to medical errors and posing potential biological hazards to receptionists were reduced from 30% to 3%.
CONCLUSION
Successful implementation of Lean Six Sigma significantly improved all of the selected performance metrics. This quality-improvement methodology has the potential to significantly improve clinical laboratories.
Topics: Clinical Laboratory Services; Diagnostic Errors; Humans; Quality Improvement; Time Factors; Total Quality Management; Workflow
PubMed: 28205271
DOI: 10.1002/jcla.22180 -
Clinics in Laboratory Medicine Mar 2018The process of conducting pathology research in Africa can be challenging. But the rewards in terms of knowledge gained, quality of collaborations, and impact on... (Review)
Review
The process of conducting pathology research in Africa can be challenging. But the rewards in terms of knowledge gained, quality of collaborations, and impact on communities affected by infectious disease and cancer are great. This report reviews 3 different research efforts: fatal malaria in Malawi, mucosal immunity to HIV in South Africa, and cancer research in Uganda. What unifies them is the use of pathology-based approaches to answer vital questions, such as physiology, pathogenesis, predictors of clinical course, and diagnostic testing schemes.
Topics: Africa; Biomedical Research; Clinical Laboratory Services; Developing Countries; Humans; Pathology, Clinical
PubMed: 29412886
DOI: 10.1016/j.cll.2017.10.006 -
Diagnosis (Berlin, Germany) Jun 2018Laboratory services around the world are undergoing substantial consolidation and changes through mechanisms ranging from mergers, acquisitions and outsourcing,... (Review)
Review
Laboratory services around the world are undergoing substantial consolidation and changes through mechanisms ranging from mergers, acquisitions and outsourcing, primarily based on expectations to improve efficiency, increasing volumes and reducing the cost per test. However, the relationship between volume and costs is not linear and numerous variables influence the end cost per test. In particular, the relationship between volumes and costs does not span the entire platter of clinical laboratories: high costs are associated with low volumes up to a threshold of 1 million test per year. Over this threshold, there is no linear association between volumes and costs, as laboratory organization rather than test volume more significantly affects the final costs. Currently, data on laboratory errors and associated diagnostic errors and risk for patient harm emphasize the need for a paradigmatic shift: from a focus on volumes and efficiency to a patient-centered vision restoring the nature of laboratory services as an integral part of the diagnostic and therapy process. Process and outcome quality indicators are effective tools to measure and improve laboratory services, by stimulating a competition based on intra- and extra-analytical performance specifications, intermediate outcomes and customer satisfaction. Rather than competing with economic value, clinical laboratories should adopt a strategy based on a set of harmonized quality indicators and performance specifications, active laboratory stewardship, and improved patient safety.
Topics: Clinical Laboratory Services; Clinical Laboratory Techniques; Commerce; Diagnostic Errors; Health Facility Merger; Humans; Outcome Assessment, Health Care; Quality Indicators, Health Care
PubMed: 29813029
DOI: 10.1515/dx-2018-0019 -
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 -
Infectious Diseases of Poverty Feb 2020Diagnostics are essential for identifying and controlling diseases. However, limited access to diagnostics hinders public health efforts in many settings. Social... (Review)
Review
BACKGROUND
Diagnostics are essential for identifying and controlling diseases. However, limited access to diagnostics hinders public health efforts in many settings. Social innovation may provide a framework for expanding access to diagnostics in the global south. Here social innovation is defined as implementing a known public health tool via a novel, community-driven technique.
MAIN BODY
In this article, we discuss three diverse cases that show the potential for using social innovation in diagnostics. The cases chosen for inclusion here demonstrate the importance of social innovation in diagnostics across different geographic, cultural, and health system contexts. They include malaria testing via schools in Malawi, cervical human papillomavirus (HPV) sample self-collection in Peru, and crowdsourcing human immunodeficiency virus (HIV) testing in China. For each case, we present the public health problem and the impact of using social innovation to increase accessibility of diagnostics. We discuss implications of each diagnostic approach and the importance of social innovation in creating these potential solutions. We argue that social innovation is useful in improving the delivery of essential diagnostic tools in low- and middle-income countries.
CONCLUSIONS
Interventions in Malawi, Peru, and China suggest social innovation increases uptake of diagnostics. The same tools and principles utilized in these cases can be adapted for use in other contexts. Such diagnostic innovations may help improve identification of and linkage to care for many diseases. The approach presents a unique opportunity to better address public health issues and increase accessibility in LMIC health systems.
Topics: Diagnostic Services; Humans; Organizational Innovation; Public Health
PubMed: 32070433
DOI: 10.1186/s40249-020-0633-6 -
The Lancet. Global Health Nov 2021
Topics: Delivery of Health Care; Diagnostic Services; Drugs, Essential; Guidelines as Topic; Humans; World Health Organization
PubMed: 34678179
DOI: 10.1016/S2214-109X(21)00467-8