Exploring The Use Of Decision Support Tools To Evaluate Cancer Predisposition Syndromes In Pediatrics
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Exploring the Use of Decision Support Tools to Evaluate Cancer Predisposition Syndromes in Pediatrics
"Background: Cancer predispositions syndromes (CPSs) are genetic conditions that increase the likelihood of developing cancer throughout a patient's lifetime. For pediatric cancer patients, CPSs are particularly relevant, as this population is less likely to develop malignancies from environmental exposures or other cancer-associated lifestyle factors. In fact, recent advances in the field of cancer genetics have elucidated the importance of recognizing the multitude of CPSs that may impact treatment plans, cancer surveillance and/or preventative measures for pediatric patients and their families. As a result, the last 20 years have seen a rise in decision-support tools (DSTs) that aim to guide health care practitioners in their evaluations of underlying CPSs. Currently, the scope of DSTs used to evaluate pediatric CPSs has yet to be described and their clinical application across Canadian institutions is not well understood. Objectives: The primary goal of this thesis is to identify, describe and categorize the features of DSTs developed for the pediatric oncology population. The second goal is to establish how these tools are being adopted in clinical settings, by assessing their utility to pediatric hematologist- oncologists (PHOs) across Canadian tertiary-care hospitals. Methods: An initial scoping review was performed to identify the pediatric-adapted DSTs that utilize the patient's clinical features to determine whether they are likely to have an underlying CPS. Using the Joanna Briggs Institute scoping review methodology, a systematic search strategy was developed and customized for MEDLINE and EMBASE databases. Subsequently, the tools identified in the scoping review informed a survey electronically distributed to PHOs across the 16 largest pediatric oncology departments in Canada. Their awareness and attitude towards DSTs were solicited on an anonymous basis. Results: Fourteen DSTs were identified, of which (8/14) (57%) have been internally or externally validated for clinical use. Half of the DSTs were specific to one CPS (7/14); the majority were published in a paper-based format (11/14); developed to input the patient's tumour type (14/14), family history of cancer (12/14), non-malignant physical findings (8/14); and developed to output their recommendation in a dichotomous form (10/14).With the online survey, a total of 36 responses from PHOs were recorded: 18/36 (50%) of the respondents had previously used a DST, while 15/36 (41.7%) had not, and 3 were uncertain. Users of DSTs did not solely rely on the tool's recommendation but used it as part of their decision-making process. Non-DST users were often unaware of the existence of these tools or how to gain access to them. Both DST users and non-users stated that a tool's ease-of-use, its accessibility, and its promotion by their academic institution constitute the most important features for a tool's adoption into their clinical practice.Conclusion: Fourteen pediatric CPS DSTs were identified through a scoping review; these were developed with a wide range of input/output parameters, formats, and types of CPSs and malignancies being evaluated. Despite the need for additional resources, the use of DSTs in clinical settings is not prominent, as half of the surveyed physicians have not previously used a DST and most tools remain unknown to them. With further development of DSTs' ease-of-use, accessibility, and evidence of their clinical benefit, adoption of DSTs in clinical practices across the country may become more systematic and lead to the increased recognition of CPSs in pediatric patients"--
Medical Genetics E-Book
Author: Lynn B. Jorde
language: en
Publisher: Elsevier Health Sciences
Release Date: 2019-09-27
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material. - Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. - Offers a completely updated discussion of genetic testing modalities and applications. - Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. - Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. - Illustrates key concepts with disease examples to demonstrate relevance to medicine. - Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.