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Diagnostic Test Accuracy of Genetic Tests in Diagnosing Psoriasis: A Systematic Review.

ABSTRACT: The pathogenesis of psoriasis involves the interaction of several environmental and genetic factors. Predicting the disease risk cannot depend on individual genetic alleles. Consequently, some studies have evaluated the use of genetic risk scores that combine several psoriasis susceptibility loci to increase the accuracy of predicting/diagnosing the disease. This meta-analysis summarizes the evidence regarding using genetic risk scores (GRS) in the diagnosis or prediction of psoriasis. A search of MEDLINE/PubMed, the Latin American Caribbean Health Sciences Literature (LILACS) database, Cochrane Library, Scopus, Web of Science, and ProQuest was conducted in July 2022. The primary objective was to record the area under the curve (AUC) for GRS of psoriasis. Secondary objectives included characteristics of studies and patients. The risk of bias (ROB) was assessed using the PROBAST tool. Five studies fulfilled the eligibility criteria of this review. None of the studies described the clinical criteria (reference standard) that were employed to diagnose psoriasis. The AUCs of the 11 GRS models ranged from 0.6029-0.8583 (median: 0.75). Marked heterogeneity was detected (Cochran Q: 1250.051, p < 0.001, and I² index: 99.2%). So, pooling of the results of the included studies was not performed. The ROB was high for all studies and clinical application was not described. Genetic risk scores are promising tools for the prediction of psoriasis with fair to good accuracy. However, further research is required to identify the most accurate combination of loci and to validate the scores in variable ethnicities.

SUBMITTER: Mirghani H

PROVIDER: S-EPMC9741513 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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Diagnostic Test Accuracy of Genetic Tests in Diagnosing Psoriasis: A Systematic Review.

Mirghani Hyder H Alharfy Abdulrahman Arshed N AAN Alanazi Abeer Mohammed M AMM Aljohani Jomanah Khalid M JKM Aljohani Raghad Abdulrahman A RAA Albalawi Raghad Hamdan A RHA Aljohani Raneem Abdulrahman A RAA Alqasmi Albalawi Danah Mohsen DM Albalawi Rahaf Hamdan A RHA Mostafa Mohamed I MI

Cureus 20221110 11

The pathogenesis of psoriasis involves the interaction of several environmental and genetic factors. Predicting the disease risk cannot depend on individual genetic alleles. Consequently, some studies have evaluated the use of genetic risk scores that combine several psoriasis susceptibility loci to increase the accuracy of predicting/diagnosing the disease. This meta-analysis summarizes the evidence regarding using genetic risk scores (GRS) in the diagnosis or prediction of psoriasis. A search ...[more]

PMID: 36514633

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Project description:BackgroundA range of molecular amplification techniques have been developed for the diagnosis of Human African Trypanosomiasis (HAT); however, careful evaluation of these tests must precede implementation to ensure their high clinical accuracy. Here, we investigated the diagnostic accuracy of molecular amplification tests for HAT, the quality of articles and reasons for variation in accuracy.MethodologyData from studies assessing diagnostic molecular amplification tests were extracted and pooled to calculate accuracy. Articles were included if they reported sensitivity and specificity or data whereby values could be calculated. Study quality was assessed using QUADAS and selected studies were analysed using the bivariate random effects model.Results16 articles evaluating molecular amplification tests fulfilled the inclusion criteria: PCR (n?=?12), NASBA (n?=?2), LAMP (n?=?1) and a study comparing PCR and NASBA (n?=?1). Fourteen articles, including 19 different studies were included in the meta-analysis. Summary sensitivity for PCR on blood was 99.0% (95% CI 92.8 to 99.9) and the specificity was 97.7% (95% CI 93.0 to 99.3). Differences in study design and readout method did not significantly change estimates although use of satellite DNA as a target significantly lowers specificity. Sensitivity and specificity of PCR on CSF for staging varied from 87.6% to 100%, and 55.6% to 82.9% respectively.ConclusionHere, PCR seems to have sufficient accuracy to replace microscopy where facilities allow, although this conclusion is based on multiple reference standards and a patient population that was not always representative. Future studies should, therefore, include patients for which PCR may become the test of choice and consider well designed diagnostic accuracy studies to provide extra evidence on the value of PCR in practice. Another use of PCR for control of disease could be to screen samples collected from rural areas and test in reference laboratories, to spot epidemics quickly and direct resources appropriately.

Project description:Perilymphatic fistula (PLF) is a challenging inner ear condition, characterized by the abnormal connection between inner and middle ear and subsequent leakage of inner ear liquid (perilymph) into the middle ear. Early surgical intervention for PLF might lead to favorable audiological and vestibular outcomes. The conventional reference standard of PLF detection is the intraoperative visualization of perilymph leakage during explorative tympanotomy or endoscopic inspection; the specificity and sensitivity of this method is unknown. Systematic reviews assessing the accuracy of diagnostic tests for PLF are not available.ObjectiveTo systematically review the literature for qualitative evidence exploring the diagnostic tests for the PLF diagnosis. The proposed systematic review will answer the following question: What is the accuracy of diagnostic tests in detecting perilymphatic fistula in humans?MethodsEligibility criteria: original peer-reviewed articles regarding studies on humans of any age containing data with diagnostic test accuracy estimation (sensitivity and specificity) for PLF diagnosis or in which diagnostic test accuracy could be calculated based on data provided, without language, study design or study date limits. MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials, Scopus, and Web of Science will be searched for eligible articles. Additional manual searches will be performed. Covidence software will be used for title and abstract screening, full text review and data extraction. The risk of bias assessment will be conducted using the Quality Assessment of Diagnostic Test Accuracy 2 (QUADAS-2) tool. If two or more high-quality articles evaluating the same diagnostic test will be identified, their findings will be quantitatively synthesized; if a quantitative synthesis is not feasible, the results will be described in a narrative summary. Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) framework will be used to evaluate evidence strength. Study funded by Oslo University Hospital.

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Dataset Information

Diagnostic Test Accuracy of Genetic Tests in Diagnosing Psoriasis: A Systematic Review.

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Diagnostic Test Accuracy of Genetic Tests in Diagnosing Psoriasis: A Systematic Review.

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