Objective: Whole-genome sequencing is being implemented in research and clinical care, yet tools to assess patients' knowledge are lacking. Our aim was to develop a robust measure of whole-genome sequencing knowledge suitable for patients and other stakeholders including research participants, public, students, and healthcare professionals.
Methods: An initial set of 17 items was developed via an iterative process including literature review, expert consultation, focus groups, and cognitive interviews with patients, and then administered to 243 individuals. We used exploratory factor analysis and item-response theory to confirm the psychometric suitability of the candidate items for assessing whole-genome sequencing knowledge.
Results: There was a strong main component after removing 5 items with low factor loadings. Item and scale homogeneity was achieved using Mokken scale analysis. Three further items were removed because they were misfits, inverse duplicates or resulted in local dependency. The remaining nine items fitted the two-parameter logistic IRT model which achieved excellent fit to the observed data. Cronbach's alpha was 0.79 indicating acceptable reliability.
Conclusion: The KOGS, developed using a rigorous psychometric approach, is a brief and reliable tool.
Practice Implications: The KOGS may prove useful for researchers and healthcare professionals using whole-genome sequencing with patients and other stakeholders.
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http://dx.doi.org/10.1016/j.pec.2018.07.011 | DOI Listing |
Microb Genom
January 2025
Department of Laboratory Medicine, Clinical Microbiology, Faculty of Medicine and Health, rebro University, rebro, Sweden.
National epidemiological investigations of microbial infections greatly benefit from the increased information gained by whole-genome sequencing (WGS) in combination with standardized approaches for data sharing and analysis. To evaluate the quality and accuracy of WGS data generated by different laboratories but analysed by joint pipelines to reach a national surveillance approach. A national methicillin-resistant (MRSA) collection of 20 strains was distributed to nine participating laboratories that performed in-house procedures for WGS.
View Article and Find Full Text PDFJ Appl Genet
January 2025
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used.
View Article and Find Full Text PDFLiver Int
February 2025
Division of Bioinformatics and Statistics, The FDA's National Center for Toxicological Research, Jefferson, Arkansas, USA.
Background And Aims: Acute liver failure (ALF) is a serious condition, typically in individuals without prior liver disease. Drug-induced ALF (DIALF) constitutes a major portion of ALF cases. Our research aimed to identify potential genetic predispositions to DIALF.
View Article and Find Full Text PDFAntimicrob Agents Chemother
January 2025
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Ceftriaxone-resistant Enterobacterales remain a public health threat; contemporary data investigating their molecular epidemiology are limited. Five hundred consecutive ceftriaxone-resistant (MIC ≥ 4 µg/mL) Enterobacterales bloodstream isolates were collected between 2018 and 2022 from three Maryland hospitals. Broth microdilution confirmed antibiotic susceptibilities.
View Article and Find Full Text PDFMicrobiol Spectr
January 2025
School of Pharmacy, Lanzhou University, Lanzhou, China.
Colorectal cancer (CRC) is a common cancer accompanied by microbiome dysbiosis. Exploration of probiotics against oncogenic microorganisms is promising for CRC treatment. Here, differential microorganisms between CRC and healthy control were analyzed.
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