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Indian Journal of Ophthalmology Nov 2023
Topics: Humans; Child; Mass Screening; Clinical Competence; Retina
PubMed: 37870031
DOI: 10.4103/IJO.IJO_835_23 -
Salud Colectiva Sep 2023This article examines the scope and limitations of the precision medicine paradigm and its relationship with the collective health approach. To that end, it takes... (Review)
Review
This article examines the scope and limitations of the precision medicine paradigm and its relationship with the collective health approach. To that end, it takes preimplantation genetic testing (PGT) as a paradigmatic example of technologies aimed at the "individualization" of health processes. In this regard, we review the characteristics and scientific and regulatory foundations of PGT technologies in Argentina, and discuss the next steps for their bioethical analysis. More specifically, we shed light on some of the conditions for their implementation from a north-south perspective. We propose three themes or problematic aspects as a synthesis of our analysis, related to biases in the production of knowledge, the values and interests underlying its uses, and the underlying epistemological assumptions of these technologies. Throughout the article, we review these dilemmas and suggest some issues that should be taken into account in future research.
Topics: Pregnancy; Female; Humans; Preimplantation Diagnosis; Genetic Testing; Argentina
PubMed: 37992285
DOI: 10.18294/sc.2023.4481 -
Pharmacogenomic testing for antidepressant treatment selection: lessons learned and roadmap forward.Neuropsychopharmacology : Official... Jan 2024Pharmacogenomic technology is a developing field with enthusiastic interest and broad application potential. Three large, controlled studies have been published... (Review)
Review
Pharmacogenomic technology is a developing field with enthusiastic interest and broad application potential. Three large, controlled studies have been published exploring the benefit of pharmacogenomically guided antidepressant treatment selection. Though all three studies did not show significant benefit of using this technology, these studies laid the foundation for further research that should address the limitations of this previous research and currently available commercial platforms. Future research needs to include large scale pharmacogenomic trials with GWAS analytics across diverse groups with attention to cost-effectiveness models, particularly for cases of treatment resistance and polypharmacy. The application of results from these large scale pharmacogenomic trials must also include exploring optimal EHR user interface design.
Topics: Pharmacogenomic Testing; Pharmacogenetics; Antidepressive Agents; Research Design
PubMed: 37550439
DOI: 10.1038/s41386-023-01667-4 -
Breast Cancer (Tokyo, Japan) Jan 2024Breast cancer mortality has not been reduced in Japan despite more than 20 years of population-based screening mammography. Screening mammography might not be suitable... (Review)
Review
Breast cancer mortality has not been reduced in Japan despite more than 20 years of population-based screening mammography. Screening mammography might not be suitable for Japanese women who often have dense breasts, thus decreasing mammography sensitivity because of masking. The J-START study showed that breast ultrasonography increases the sensitivity and the detection rate for early invasive cancers and lowers the rate of interval cancers for Japanese women in their 40 s. Breast awareness and breast cancer survival are directly correlated; however, breast awareness is not widely known in Japan. Next-generation breast cancer screening in Japan should consist of breast awareness campaigns for improving breast cancer literacy and supplemental breast ultrasonography to address the problem of false-negative mammograms attributable to dense breasts.
Topics: Female; Humans; Breast Neoplasms; Mammography; Japan; Early Detection of Cancer; Breast; Ultrasonography; Ultrasonography, Mammary; Mass Screening
PubMed: 37823977
DOI: 10.1007/s12282-023-01506-w -
JAMA Network Open Nov 2023Despite recommendations for universal screening, adherence to colorectal cancer screening in the US is approximately 60%. Liquid biopsy tests are in development for...
IMPORTANCE
Despite recommendations for universal screening, adherence to colorectal cancer screening in the US is approximately 60%. Liquid biopsy tests are in development for cancer early detection, but it is unclear whether they are cost-effective for colorectal cancer screening.
OBJECTIVE
To estimate the cost-effectiveness of liquid biopsy for colorectal cancer screening in the US.
DESIGN, SETTING, AND PARTICIPANTS
In this economic evaluation, a Markov model was developed to compare no screening and 5 colorectal cancer screening strategies: colonoscopy, liquid biopsy, liquid biopsy following nonadherence to colonoscopy, stool DNA, and fecal immunochemical test. Adherence to first-line screening with colonoscopy, stool DNA, or fecal immunochemical test was assumed to be 60.6%, and adherence for liquid biopsy was assumed to be 100%. For colonoscopy, stool DNA, and fecal immunochemical test, patients who did not adhere to testing were not offered other screening. In colonoscopy-liquid biopsy hybrid, liquid biopsy was second-line screening for those who deferred colonoscopy. Scenario analyses were performed to include the possibility of polyp detection for liquid biopsy.
EXPOSURES
No screening, colonoscopy, fecal immunochemical test, stool DNA, liquid biopsy, and colonoscopy-liquid biopsy hybrid screening.
MAIN OUTCOMES AND MEASURES
Model outcomes included life expectancy, total cost, and incremental cost-effectiveness ratios. A strategy was considered cost-effective if it had an incremental cost-effectiveness ratio less than the US willingness-to-pay threshold of $100 000 per life-year gained.
RESULTS
This study used a simulated cohort of patients aged 45 years with average risk of colorectal cancer. In the base case, colonoscopy was the preferred, or cost-effective, strategy with an incremental cost-effectiveness ratio of $28 071 per life-year gained. Colonoscopy-liquid biopsy hybrid had the greatest gain in life-years gained but had an incremental cost-effectiveness ratio of $377 538. Colonoscopy-liquid biopsy hybrid had a greater gain in life-years if liquid biopsy could detect polyps but remained too costly.
CONCLUSIONS AND RELEVANCE
In this economic evaluation of liquid biopsy for colorectal cancer screening, colonoscopy was a cost-effective strategy for colorectal cancer screening in the general population, and the inclusion of liquid biopsy as a first- or second-line screening strategy was not cost-effective at its current cost and screening performance. Liquid biopsy tests for colorectal cancer screening may become cost-effective if their cost is substantially lowered.
Topics: Humans; Cost-Benefit Analysis; Early Detection of Cancer; Mass Screening; DNA; Colorectal Neoplasms; Polyps
PubMed: 37971743
DOI: 10.1001/jamanetworkopen.2023.43392 -
Journal of Korean Medical Science May 2024Hereditary hemolytic anemia (HHA) is considered a group of rare hematological diseases in Korea, primarily because of its unique ethnic characteristics and diagnostic... (Review)
Review
Hereditary hemolytic anemia (HHA) is considered a group of rare hematological diseases in Korea, primarily because of its unique ethnic characteristics and diagnostic challenges. Recently, the prevalence of HHA has increased in Korea, reflecting the increasing number of international marriages and increased awareness of the disease. In particular, the diagnosis of red blood cell (RBC) enzymopathy experienced a resurgence, given the advances in diagnostic techniques. In 2007, the RBC Disorder Working Party of the Korean Society of Hematology developed the Korean Standard Operating Procedure for the Diagnosis of Hereditary Hemolytic Anemia, which has been continuously updated since then. The latest Korean clinical practice guidelines for diagnosing HHA recommends performing next-generation sequencing as a preliminary step before analyzing RBC membrane proteins and enzymes. Recent breakthroughs in molecular genetic testing methods, particularly next-generation sequencing, are proving critical in identifying and providing insight into cases of HHA with previously unknown diagnoses. These innovative molecular genetic testing methods have now become important tools for the management and care planning of patients with HHA. This review aims to provide a comprehensive overview of recent advances in molecular genetic testing for the diagnosis of HHA, with particular emphasis on the Korean context.
Topics: Humans; Republic of Korea; High-Throughput Nucleotide Sequencing; Anemia, Hemolytic, Congenital; Genetic Testing
PubMed: 38742293
DOI: 10.3346/jkms.2024.39.e162 -
Movement Disorders Clinical Practice May 2024Genetic testing, including whole genome, whole exome, and other next-generation sequencing technologies, has evolved vastly in the past decade. With this, the number of...
Genetic testing, including whole genome, whole exome, and other next-generation sequencing technologies, has evolved vastly in the past decade. With this, the number of identified genes and genetic variants is constantly increasing. Although a variety of databases and online tools exist that summarize, categorize, and classify genes, a clear guideline of which information is needed when reporting a gene and what to do when identifying a new gene is lacking. This includes the correct nomenclature, descriptive information about genetic loci and genetic variation, aliases, and correlated phenotypes. This tutorial is meant to serve as an introduction to reporting genes in a paper and provides an overview of available databases and tools to obtain all necessary information on the genes of interest.
Topics: Humans; Databases, Genetic; Genes; Genetic Testing
PubMed: 38469948
DOI: 10.1002/mdc3.13984 -
Genes Nov 2023Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime... (Review)
Review
Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer. In this article, we provide an overview of the reproductive options for patients diagnosed with CPS, focusing on the emerging role of Preimplantation Genetic Testing for Monogenic disorders (PGT-M). Specifically, we conducted a literature review about the awareness and acceptability of its application to CPSs. Based on the available data, the awareness of the applicability of PGT-M for CPSs appears to be limited among both patients and physicians, and a heterogeneous set of factors seems to influence the acceptability of the procedure. Our findings highlight the need for increasing education about the use of PGT-M for CPSs. In this context, guidelines developed by professional or institutional bodies would represent a useful reference tool to assist healthcare professionals in providing proper preconception counseling.
Topics: Pregnancy; Female; Humans; Preimplantation Diagnosis; Genetic Testing; Reproduction; Neoplasms; Disease Susceptibility
PubMed: 38003012
DOI: 10.3390/genes14112069 -
Cureus Sep 2023This study presents a comprehensive assessment of healthcare facilities, focusing on workforce composition, operational dynamics, diagnostic laboratory services, and...
INTRODUCTION
This study presents a comprehensive assessment of healthcare facilities, focusing on workforce composition, operational dynamics, diagnostic laboratory services, and accessibility considerations. The comparison between government and private healthcare sectors provides insights into service delivery and potential disparities. The study's rationale, objectives, and methodology are explored in the context of the Indian healthcare landscape.
METHODS
A cross-sectional analysis was conducted in Muzaffarpur district, Bihar, targeting selected urban and rural blocks. The study employed geolocation data to analyze accessibility to healthcare facilities. Data collection involved on-site visits, structured questionnaires, and consultation of the Indian Council of Medical Research (ICMR)'s framework. The assessment concentrated on the availability of tests offered by the LaBike platform, and workforce compositions were compared.
RESULTS
Government healthcare facilities exhibited a balanced distribution of doctors, nurses, and grassroot workers, reflecting comprehensive healthcare provisions. Private facilities, although featuring moderate doctor and nurse presence, lacked grassroot workers. Diagnostic test prevalence was evident, with core tests, such as CBC and blood glucose, available in over 85% of facilities. Government facilities provided tests free of charge, while private facilities showcased a diverse cost spectrum. Proposed interventions received strong support from both sectors, indicating the potential for innovative healthcare solutions. Accessibility analysis: Urban intervention and control sites demonstrated comparable accessibility, with facilities located within 2 km. In rural intervention and control sites, distances varied significantly. Mushahari, a rural intervention site, required participants to travel 6 km to the nearest facility, impacting healthcare access. By contrast, Marwan, a rural control site, featured a shorter distance of 3 km.
CONCLUSION
This study's comprehensive evaluation of healthcare facilities offers valuable insights into workforce dynamics, diagnostic services, and healthcare interventions in the context of government and private sectors. The findings underscore the significance of addressing workforce gaps and promoting equitable access to diagnostics. By informing evidence-based decision-making, this study contributes to the optimization of healthcare service delivery, aiming to enhance healthcare quality and accessibility for all.
PubMed: 37900506
DOI: 10.7759/cureus.46037 -
BMJ Open Quality Apr 2024The failed or partial implementation of clinical practices negatively impacts patient safety and increases systemic inefficiencies. Implementation of sepsis screening... (Review)
Review
INTRODUCTION
The failed or partial implementation of clinical practices negatively impacts patient safety and increases systemic inefficiencies. Implementation of sepsis screening guidelines has been undertaken in many settings with mixed results. Without a theoretical understanding of what leads to successful implementation, improving implementation will continue to be ad hoc or intuitive. This study proposes a programme theory for how and why the successful implementation of sepsis screening guidelines can occur.
METHODS
A rapid realist review was conducted to develop a focused programme theory for the implementation of sepsis screening guidelines. An independent two-reviewer approach was used to iteratively extract and synthesise context and mechanism data. Theoretical context-mechanism-outcome propositions were refined and validated by clinicians using a focus group and individual realist interviews. Implementation resources and clinical reasoning were differentiated in articulating mechanisms.
RESULTS
Eighteen articles were included in the rapid review. The theoretical domains framework was identified as the salient substantive theory informing the programme theory. The theory consisted of five main middle-range propositions. Three promoting mechanisms included positive belief about the benefits of the protocol, belief in the legitimacy of using the protocol and trust within the clinical team. Two inhibiting mechanisms included pessimism about the protocol being beneficial and pessimism about the team. Successful implementation was defined as achieving fidelity and sustained use of the intervention. Two intermediate outcomes, acceptability and feasibility of the intervention, and adoption, were necessary to achieve before successful implementation.
CONCLUSION
This rapid realist review synthesised key information from the literature and clinician feedback to develop a theory-based approach to clinical implementation of sepsis screening. The programme theory presents knowledge users with an outline of how and why clinical interventions lead to successful implementation and could be applied in other clinical areas to improve quality and safety.
Topics: Humans; Sepsis; Mass Screening
PubMed: 38684345
DOI: 10.1136/bmjoq-2023-002593