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Biomarkers --- Genetic Testing --- Down Syndrome --- diagnosis
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Prenatal Diagnosis --- Neonatal Screening --- Genetic Testing --- Genetic Counseling
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Prenatal Diagnosis --- Ethics, Medical --- Genetic Screening --- #GBIB:CBMER --- Prenatal diagnosis --- Genetic Testing --- Genetic Testing. --- Prenatal Diagnosis. --- Ethics, Medical.
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"The Sociology of Medical Screening: Critical Perspectives, New Directions presents a series of readings that provide an up-to-date overview of the diverse sociological issues relating to population-based medical screening. Features new research data in most of the contributions. Includes contributions from eminent sociologists such as David Armstrong, Stefan Timmermans, and Alison Pilnick. Represents one of the only collections to specifically address the sociology of medical screening"--Provided by publisher.
Mass Screening --- Genetic Testing --- Sociology, Medical --- Mass Screening. --- Genetic Testing. --- Sociology, Medical. --- #SBIB:316.334.3M50 --- #SBIB:316.334.3M51 --- Genetic diagnosis --- Genetic testing --- Organisatie van de gezondheidszorg: algemeen, beleid --- Organisatie van de gezondheidszorg: modellen van therapeutisch handelen
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Thromboembolism --- Human chromosome abnormalities --- Venous Thromboembolism. --- Factor V --- Genetic Testing. --- Predictive Value of Tests. --- Diagnosis --- genetics.
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Genetic screening --- Ovarian Neoplasms --- Ovarian Neoplasms --- Genetic Testing --- Genomics --- Models, Genetic. --- diagnosis. --- genetics. --- methods. --- methods.
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"Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence framework for genetic testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care"--
Gene expression --- Human chromosome abnormalities --- Research --- Methodology. --- Diagnosis. --- Genetic diagnosis --- Genetic testing --- Genes --- Genetic regulation --- Expression
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'Oxford Textbook Violence Prevention' brings together an international team of experts to provide an extensive global account of the global mortality and morbidity burden caused by violence through examining the causes of violence, and what can be done to prevent and reduce violence.
Nervous system --- Human chromosome abnormalities --- Genetic diagnosis --- Genetic testing --- Diseases --- Genetic aspects. --- Diagnosis.
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The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.
genetic variants --- Cardiovascular Diseases --- Genetic Testing --- channelopathy --- variant interpretation --- NGS --- Sudden cardiac death --- cardiomyopathy --- Cardiovascular genetics
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