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Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.

ABSTRACT: The role of genetics in epilepsy has been recognized for a long time. Over the past decade, genome-wide technologies have identified numerous genes and variants associated with epilepsy. In the clinical setting, a myriad of genetic testing options are available, and a subset of specific genetic diagnoses have management implications. Furthermore, genetic testing can be a dynamic process. As a result, fundamental knowledge about genetics and genomics has become essential for all specialists. Here, we review current knowledge of the genetic contribution to various types of epilepsy, provide an overview of types of genetic variants, and discuss genetic testing options and their diagnostic yield. We also consider advantages and limitations of testing approaches.

SUBMITTER: Chen WL

PROVIDER: S-EPMC8608977 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.

Chen Wei-Liang WL Mefford Heather C HC

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20210701 3

The role of genetics in epilepsy has been recognized for a long time. Over the past decade, genome-wide technologies have identified numerous genes and variants associated with epilepsy. In the clinical setting, a myriad of genetic testing options are available, and a subset of specific genetic diagnoses have management implications. Furthermore, genetic testing can be a dynamic process. As a result, fundamental knowledge about genetics and genomics has become essential for all specialists. Here ...[more]

PMID: 34532824

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Project description:BackgroundThe implementation of evidence-based guidelines can improve clinical and public health outcomes by helping health professionals practice in the most effective manner, as well as assisting policy-makers in designing optimal programs. Adaptation of a guideline to suit the context in which it is intended to be applied can be a key step in the implementation process. Without taking the local context into account, certain interventions recommended in evidence-based guidelines may be infeasible under local conditions. Guideline adaptation frameworks provide a systematic way of approaching adaptation, and their use may increase transparency, methodological rigor, and the quality of the adapted guideline. This paper presents a number of adaptation frameworks that are currently available. We aim to compare the advantages and limitations of their processes, methods, and resource implications. These insights into adaptation frameworks can inform the future development of guidelines and systematic methods to optimize their adaptation.AnalysisRecent adaptation frameworks show an evolution from adapting entire existing guidelines, to adapting specific recommendations extracted from an existing guideline, to constructing evidence tables for each recommendation that needs to be adapted. This is a move towards more recommendation-focused, context-specific processes and considerations. There are still many gaps in knowledge about guideline adaptation. Most of the frameworks reviewed lack any evaluation of the adaptation process and outcomes, including user satisfaction and resources expended. The validity, usability, and health impact of guidelines developed via an adaptation process have not been studied. Lastly, adaptation frameworks have not been evaluated for use in low-income countries.ConclusionDespite the limitations in frameworks, a more systematic approach to adaptation based on a framework is valuable, as it helps to ensure that the recommendations stay true to the evidence while taking local needs into account. The utilization of frameworks in the guideline implementation process can be optimized by increasing the understanding and upfront estimation of resource and time needed, capacity building in adaptation methods, and increasing the adaptability of the source recommendation document.

Project description:BackgroundThe availability of a diagnostic test to detect subclinical leprosy cases is crucial to interrupt the transmission of M. leprae. In this study we assessed the minimum sensitivity level of such a (hypothetical) diagnostic test and the optimal testing strategy in order to effectively reduce the new case detection rate (NCDR) of leprosy.Methods and findingsWe used the individual-based model SIMCOLEP, and based it on previous quantification using COLEP data, a cohort study of leprosy cases in Bangladesh. The baseline consisted of treatment with Multidrug therapy of clinically diagnosed leprosy cases, passive case detection and household contact tracing. We examined the use of a leprosy diagnostic test for subclinical leprosy in four strategies: testing in 1) household contacts, 2) household contacts with a 3-year follow-up, 3) a population survey with coverage 50%, and 4) a population survey (100%). For each strategy, we varied the test sensitivity between 50% and 100%. All analyses were conducted for a high, medium, and low (i.e. 25, 5 and 1 per 100,000) endemic setting over a period of 50 years. In all strategies, the use of a diagnostic test further reduces the NCDR of leprosy compared to the no test strategy. A substantial reduction could already be achieved at a test sensitivity as low as 50%. In a high endemic setting, a NCDR of 10 per 100,000 could be reached within 8-10 years in household contact testing, and 2-6 years in a population testing. Testing in a population survey could also yield the highest number of prevented new cases, but requires a large number needed to test and treat. In contrast, household contact testing has a smaller impact on the NCDR but requires a substantially lower number needed to test and treat.ConclusionsA diagnostic test for subclinical leprosy with a sensitivity of at least 50% could substantially reduce M. leprae transmission. To effectively reduce NCDR in the short run, a population survey is preferred over household contact tracing. However, this is only favorable in high endemic settings.

Dataset Information

Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.

Publications

Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.

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