scholarly journals Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

2017 ◽  
Author(s):  
Natasha T. Strande ◽  
Erin Rooney Riggs ◽  
Adam H. Buchanan ◽  
Ozge Ceyhan-Birsoy ◽  
Marina DiStefano ◽  
...  

AbstractWith advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate clinically valid relationships from less well-substantiated relationships, standard guidelines for such evaluation do not currently exist. The NIH-funded Clinical Genome Resource (ClinGen) has developed a framework to define and evaluate the clinical validity of gene-disease pairs across a variety of Mendelian disorders. In this manuscript we describe a proposed framework to evaluate relevant genetic and experimental evidence supporting or contradicting a gene-disease relationship, and the subsequent validation of this framework using a set of representative gene-disease pairs. The framework provides a semi-quantitative measurement for the strength of evidence of a gene-disease relationship which correlates to a qualitative classification: “Definitive”, “Strong”, “Moderate”, “Limited”, “No Reported Evidence” or “Conflicting Evidence.” Within the ClinGen structure, classifications derived using this framework are reviewed and confirmed or adjusted based on clinical expertise of appropriate disease experts. Detailed guidance for utilizing this framework and access to the curation interface is available on our website. This evidence-based, systematic method to assess the strength of gene-disease relationships will facilitate more knowledgeable utilization of genomic variants in clinical and research settings.

2021 ◽  
pp. 095935432110598
Author(s):  
Tony Ward ◽  
Brian D. Haig ◽  
Max McDonald

The model of evidence-based practice (EBP) directs clinicians to integrate the best available research evidence, clinical expertise, client preferences and values, and social and cultural factors in the assessment and treatment of psychological problems. Despite its many strengths, the five-step inquiry component of the EBP model suffers from several conceptual and practical problems that make it difficult to implement in practice. In this article, we first outline the transdisciplinary EBP model. Second, several criticisms of the overall EBP model are outlined and briefly discussed. Third, five pressing problems in the inquiry component of the EBP model are identified: (a) information overload, (b) a focus on questions rather than tasks, (c) neglect of theory, (d) difficulty dealing with conflicting evidence, and (e) an oversimplified view of the role of values in research and practice. Fourth, we suggest ways of modifying the inquiry part of the model to address these problems.


2017 ◽  
Vol 100 (6) ◽  
pp. 895-906 ◽  
Author(s):  
Natasha T. Strande ◽  
Erin Rooney Riggs ◽  
Adam H. Buchanan ◽  
Ozge Ceyhan-Birsoy ◽  
Marina DiStefano ◽  
...  

2020 ◽  
Vol 29 (2) ◽  
pp. 688-704
Author(s):  
Katrina Fulcher-Rood ◽  
Anny Castilla-Earls ◽  
Jeff Higginbotham

Purpose The current investigation is a follow-up from a previous study examining child language diagnostic decision making in school-based speech-language pathologists (SLPs). The purpose of this study was to examine the SLPs' perspectives regarding the use of evidence-based practice (EBP) in their clinical work. Method Semistructured phone interviews were conducted with 25 school-based SLPs who previously participated in an earlier study by Fulcher-Rood et al. 2018). SLPs were asked questions regarding their definition of EBP, the value of research evidence, contexts in which they implement scientific literature in clinical practice, and the barriers to implementing EBP. Results SLPs' definitions of EBP differed from current definitions, in that SLPs only included the use of research findings. SLPs seem to discuss EBP as it relates to treatment and not assessment. Reported barriers to EBP implementation were insufficient time, limited funding, and restrictions from their employment setting. SLPs found it difficult to translate research findings to clinical practice. SLPs implemented external research evidence when they did not have enough clinical expertise regarding a specific client or when they needed scientific evidence to support a strategy they used. Conclusions SLPs appear to use EBP for specific reasons and not for every clinical decision they make. In addition, SLPs rely on EBP for treatment decisions and not for assessment decisions. Educational systems potentially present other challenges that need to be considered for EBP implementation. Considerations for implementation science and the research-to-practice gap are discussed.


2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lisanne S. Welink ◽  
Kaatje Van Roy ◽  
Roger A. M. J. Damoiseaux ◽  
Hilde A. Suijker ◽  
Peter Pype ◽  
...  

Abstract Background Evidence-based medicine (EBM) in general practice involves applying a complex combination of best-available evidence, the patient’s preferences and the general practitioner’s (GP) clinical expertise in decision-making. GPs and GP trainees learn how to apply EBM informally by observing each other’s consultations, as well as through more deliberative forms of workplace-based learning. This study aims to gain insight into workplace-based EBM learning by investigating the extent to which GP supervisors and trainees recognise each other’s EBM behaviour through observation, and by identifying aspects that influence their recognition. Methods We conducted a qualitative multicentre study based on video-stimulated recall interviews (VSI) of paired GP supervisors and GP trainees affiliated with GP training institutes in Belgium and the Netherlands. The GP pairs (n = 22) were shown fragments of their own and their partner’s consultations and were asked to elucidate their own EBM considerations and the ones they recognised in their partner’s actions. The interview recordings were transcribed verbatim and analysed with NVivo. By comparing pairs who recognised each other’s considerations well with those who did not, we developed a model describing the aspects that influence the observer’s recognition of an actor’s EBM behaviour. Results Overall, there was moderate similarity between an actor’s EBM behaviour and the observer’s recognition of it. Aspects that negatively influence recognition are often observer-related. Observers tend to be judgemental, give unsolicited comments on how they would act themselves and are more concerned with the trainee-supervisor relationship than objective observation. There was less recognition when actors used implicit reasoning, such as mindlines (internalised, collectively reinforced tacit guidelines). Pair-related aspects also played a role: previous discussion of a specific topic or EBM decision-making generally enhanced recognition. Consultation-specific aspects played only a marginal role. Conclusions GP trainees and supervisors do not fully recognise EBM behaviour through observing each other’s consultations. To improve recognition of EBM behaviour and thus benefit from informal observational learning, observers need to be aware of automatic judgements that they make. Creating explicit learning moments in which EBM decision-making is discussed, can improve shared knowledge and can also be useful to unveil tacit knowledge derived from mindlines.


2009 ◽  
Vol 24 (4) ◽  
pp. 298-305 ◽  
Author(s):  
David A. Bradt

AbstractEvidence is defined as data on which a judgment or conclusion may be based. In the early 1990s, medical clinicians pioneered evidence-based decision-making. The discipline emerged as the use of current best evidence in making decisions about the care of individual patients. The practice of evidence-based medicine required the integration of individual clinical expertise with the best available, external clinical evidence from systematic research and the patient's unique values and circumstances. In this context, evidence acquired a hierarchy of strength based upon the method of data acquisition.Subsequently, evidence-based decision-making expanded throughout the allied health field. In public health, and particularly for populations in crisis, three major data-gathering tools now dominate: (1) rapid health assessments; (2) population based surveys; and (3) disease surveillance. Unfortunately, the strength of evidence obtained by these tools is not easily measured by the grading scales of evidence-based medicine. This is complicated by the many purposes for which evidence can be applied in public health—strategic decision-making, program implementation, monitoring, and evaluation. Different applications have different requirements for strength of evidence as well as different time frames for decision-making. Given the challenges of integrating data from multiple sources that are collected by different methods, public health experts have defined best available evidence as the use of all available sources used to provide relevant inputs for decision-making.


2022 ◽  
Author(s):  
Dedi Ardinata

Evidence-based medicine (EBM), which emphasizes that medical decisions must be based on the most recent best evidence, is gaining popularity. Individual clinical expertise is combined with the best available external clinical evidence derived from systematic research in the practice of EBM. The key and core of EBM is the hierarchical system for categorizing evidence. The Grading of Recommendations, Assessment, Development and Evaluations (GRADE) system divides evidence quality into four categories: high, moderate, low, and very low. GRADE is based on the lowest quality of evidence for any of the outcomes that are critical to making a decision, reducing the risk of mislabeling the overall evidence quality, when evidence for a critical outcome is lacking. This principle is also used in acupuncture as a complementary and integrative treatment modality, but incorporating scientific evidence is more difficult due to a number of factors. The goal of this chapter is to discuss how to establish a clinical evidence system for acupuncture, with a focus on the current quality of evidence for a variety of conditions or diseases.


2019 ◽  
Vol 18 (3) ◽  
pp. 197-199
Author(s):  
Mariusz Panczyk ◽  
Joanna Gotlib

AbstractIntroduction. Although European healthcare systems differ from country to country, almost all are currently going through profound changes and are becoming increasingly complex. New tasks and growing social expectations towards healthcare build high expectations of medical professionals regarding their competences. Knowledge and skills allowing for choosing the safest and most efficient option for patient care are particularly welcome. The idea of Evidence-based Nursing Practice (EBP) combines the best available research evidence on the one hand and clinical expertise and patients’ expectations on the other, allowing for solving problems in making clinical decisions. EBP is a tool used for making clinical decisions in nursing care that helps to reduce the cost of healthcare by increasing efficiency and safety. Under the Directive 2013/55/EU European Federation of Nurses Associations developed qualifications framework that provides requirements for nursing training, with the ability to apply research evidence in clinical practice being one of its key elements. Despite the aforementioned recommendations, the actual implementation of EBP into clinical practice is hindered by various obstacles. In addition, the existing European resources enhancing EBP teaching for nursing students are very limited.Summary. The EBP e-Toolkit Project is a response to high needs of the academic world and nursing practitioners, involving six institutions whose cooperation and expertise aim to ensure the development and implementation of high-quality learning tools tailored to the educational needs of modern nursing personnel. The six higher education institutions that jointly implement the aforementioned project involve: the University of Murcia (coordinating institution, Spain), Technological Educational Institute of Crete (Greece), University of Modena e Reggio Emilia (Italy), University of Ostrava (Czech Republic), Medical University of Warsaw (Poland), and Angela Boskin Faculty of Health Care (Slovenia).


2018 ◽  
Vol 33 (3) ◽  
pp. 154-157 ◽  
Author(s):  
Catherine F. Yonkaitis ◽  
Erin D. Maughan

Evidence-based practice (EBP) is often thought to be synonymous with research and literature. This article focuses on the fourth step in the EBP process: Apply. In this step, we fully integrate the EBP Venn diagram, which illustrates that EBP occurs at the intersection of evidence and data, clinical expertise and resources, and population’s values and cultures. Only when school nurses include each component into their practice decision will true EBP occur.


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