The Experts below are selected from a list of 30 Experts worldwide ranked by ideXlab platform
Genomics Professional Practice - One of the best experts on this subject based on the ideXlab platform.
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a practice guideline from the american college of medical genetics and genomics and the national society of genetic counselors referral indications for cancer predisposition assessment
Genetics in Medicine, 2015Co-Authors: Heather Hampel, Robin L Bennett, Adam H Buchanan, Rachel Pearlman, Georgia L Wiesner, Genomics Professional PracticeAbstract:The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed by members of the ACMG and NSGC to assist medical geneticists, genetic counselors, and other health-care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the ACMG and NSGC joint practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are current only as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments, and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health-care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by the ACMG or the NSGC for educational and informational purposes only, and neither the ACMG nor the NSGC "approve" or "endorse" any specific methods, practices, or sources of information.Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peer-reviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their first-degree relatives meet any of these referral criteria.
Edward S. Tobias - One of the best experts on this subject based on the ideXlab platform.
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Developing educational iPhone, Android and Windows smartphone cross-platform apps to facilitate understanding of clinical genomics terminology.
Applied & translational genomics, 2015Co-Authors: Adam P. Tobias, Edward S. TobiasAbstract:Clinicians are increasingly using genomic technologies to determine the molecular basis of presenting conditions, identify increased risk factors or guide treatment (Deciphering Developmental Disorders Study, 2015). Unfortunately, however, the bioinformatic terms and acronyms that are frequently used in the new field of Clinical Genomics (the study of all genes simultaneously, rather than of individual genes as in Clinical Genetics) can often be unfamiliar to many health professionals (Institute of Medicine Roundtable on Translating Genomic-Based Research for Health, 2015). These include clinicians who, increasingly, need to be able to accurately interpret clinical genomics-related laboratory reports and to understand genomics research papers and seminars. This is in addition to the requirement for these individuals to participate in discussions with genetics lab scientists and, on occasion, bioinformaticians. Unfortunately, online information can be unhelpful as the genomics definitions provided on the internet are often written for readers with much previous genomics-related knowledge. Excellent online summaries of genetic conditions and of standard genetics terms are available via GeneReviews (http://www.ncbi.nlm.nih.gov/books/NBK1116/), UpToDate (http://www.uptodate.com/home) and the National Human Genome Research Institute (https://www.genome.gov). These sources, however, currently do not provide explanations of many of the technical terms that relate to the field of genomics. Moreover, mobile internet access can be intermittent or slow, for instance, on public transport in the UK. A self-contained mobile app (application), in contrast, can provide a user-friendly, rapid and accessible alternative information source with its customized contained information being available offline. Furthermore, a high proportion of professionals and postgraduate students now use Apple (iOS), Android or Windows smartphones (Sandholzer et al., 2015, Payne et al., 2012). 1.1. Objectives The objective was primarily to provide a concise bioinformatics dictionary for clinicians that is easy to access and to understand. Specifically, the aim was to create a smartphone app containing a small glossary of commonly used (but often unfamiliar) genomics terms (eg “FASTQ” and “PED file”) that would be user-friendly, easily accessible, self-contained and accompanied by illustrated explanations. The app containing this information would, ideally, be capable of running on Android or iOS portable devices and on a PC. An additional objective was to create an interactive quiz as a self-assessment system to test the learning of this information, with a personal points score. Currently, no similar electronic mobile self-contained glossary exists that covers the highly specialized terms used in clinical genomics.
Heather Hampel - One of the best experts on this subject based on the ideXlab platform.
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a practice guideline from the american college of medical genetics and genomics and the national society of genetic counselors referral indications for cancer predisposition assessment
Genetics in Medicine, 2015Co-Authors: Heather Hampel, Robin L Bennett, Adam H Buchanan, Rachel Pearlman, Georgia L Wiesner, Genomics Professional PracticeAbstract:The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed by members of the ACMG and NSGC to assist medical geneticists, genetic counselors, and other health-care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the ACMG and NSGC joint practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are current only as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments, and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health-care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by the ACMG or the NSGC for educational and informational purposes only, and neither the ACMG nor the NSGC "approve" or "endorse" any specific methods, practices, or sources of information.Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peer-reviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their first-degree relatives meet any of these referral criteria.
Georgia L Wiesner - One of the best experts on this subject based on the ideXlab platform.
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a practice guideline from the american college of medical genetics and genomics and the national society of genetic counselors referral indications for cancer predisposition assessment
Genetics in Medicine, 2015Co-Authors: Heather Hampel, Robin L Bennett, Adam H Buchanan, Rachel Pearlman, Georgia L Wiesner, Genomics Professional PracticeAbstract:The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed by members of the ACMG and NSGC to assist medical geneticists, genetic counselors, and other health-care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the ACMG and NSGC joint practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are current only as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments, and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health-care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by the ACMG or the NSGC for educational and informational purposes only, and neither the ACMG nor the NSGC "approve" or "endorse" any specific methods, practices, or sources of information.Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peer-reviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their first-degree relatives meet any of these referral criteria.
Rachel Pearlman - One of the best experts on this subject based on the ideXlab platform.
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a practice guideline from the american college of medical genetics and genomics and the national society of genetic counselors referral indications for cancer predisposition assessment
Genetics in Medicine, 2015Co-Authors: Heather Hampel, Robin L Bennett, Adam H Buchanan, Rachel Pearlman, Georgia L Wiesner, Genomics Professional PracticeAbstract:The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed by members of the ACMG and NSGC to assist medical geneticists, genetic counselors, and other health-care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the ACMG and NSGC joint practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are current only as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments, and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health-care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by the ACMG or the NSGC for educational and informational purposes only, and neither the ACMG nor the NSGC "approve" or "endorse" any specific methods, practices, or sources of information.Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peer-reviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their first-degree relatives meet any of these referral criteria.