"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"--

Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counsellors - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples - Consolidates today's available information and guidance in this timely area into one convenient resource - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. - Consolidates today's available information and guidance in this timely area into one convenient resource.

Anticipate and Communicate is the Bioethics Commission's sixth major report. In this report the Bioethics Commission offers specific recommendations for the management of incidental and secondary findings in clinical, research and direct-to-consumer settings. Emerging medical technologies, changing cost structures, and evolving medical practice make the likelihood of discovering incidental and secondary findings across contexts a growing certainty. Such findings can be lifesaving, but also can lead to uncertainty and distress if they are unexpected or identify conditions for which no effective treatment is available.

This systematic review was undertaken to: (1) evaluate the accuracy of patient reporting of cancer family history; (2) identify and evaluate tools designed to capture cancer family history that are applicable to the primary care setting; and (3) identify and evaluate risk assessment tools (RATs) in promoting appropriate management of familial cancer risk in primary care settings. For family history tools (FHxTs) and RATs, studies were limited to those applicable to primary care settings. Conclusions: Informants reporting their cancer family history have greater accuracy for relatives free of cancer than those with cancer. Reporting accuracy may vary among different cancer types. Charts and tables.

Psychosocial issues are integral to all genetic counseling interactions. They include counselees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxiety and guilt, and the complex process of decision making. Drawing on direct clinical experience and the growing body of relevant literature, Psychosocial Genetic Counseling provides a comprehensive, integrated approach to understanding these issues and their applications to genetic counseling. The book combines theoretical and practical approaches, including many clinical vignettes and examples of dialogue. It is written in an engaging style that conveys the emotional immediacy of genetic counseling. The emotional and social effects of genetic disorders are discussed with reference to the individual and to couple, family, and social interactions. Counseling techniques and the agenda of the genetic counseling session are then addressed in detail. Specialized aspects of prenatal diagnosis counseling, cancer risk counseling, and genetic counseling with children and adolescents are integrated with these general principles. Nondirective counseling and the psychology of risk interpretation and decision making are discussed from theoretical and historical perspectives, leading to recommendations for their application to clinical practice. The influences of ethnocultural history, beliefs and practices, for counselee and counselor, are then discussed as they enter into all aspects of genetic counseling.

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Genetic counselors translate the findings of scientific investigation into meaningful accounts that enable individuals and families to make decisions about their lives. This collection of original papers explores the history, values, and norms of that process, with some focus on the value of nondirectiveness in counseling practice. The contributors; examination of genetic counseling issues serves as a foundation from which to address other ethical, legal, and policy considerations in the expanding universe of clinical genetics.

Getting the right diagnosis is a key aspect of health care - it provides an explanation of a patient's health problem and informs subsequent health care decisions. The diagnostic process is a complex, collaborative activity that involves clinical reasoning and information gathering to determine a patient's health problem. According to Improving Diagnosis in Health Care, diagnostic errors-inaccurate or delayed diagnoses-persist throughout all settings of care and continue to harm an unacceptable number of patients. It is likely that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment, providing unnecessary or harmful treatment, or resulting in psychological or financial repercussions. The committee concluded that improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative. Improving Diagnosis in Health Care, a continuation of the landmark Institute of Medicine reports To Err Is Human (2000) and Crossing the Quality Chasm (2001), finds that diagnosis-and, in particular, the occurrence of diagnostic errorsâ€"has been largely unappreciated in efforts to improve the quality and safety of health care. Without a dedicated focus on improving diagnosis, diagnostic errors will likely worsen as the delivery of health care and the diagnostic process continue to increase in complexity. Just as the diagnostic process is a collaborative activity, improving diagnosis will require collaboration and a widespread commitment to change among health care professionals, health care organizations, patients and their families, researchers, and policy makers. The recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety.