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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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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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Genetic screening --- Ovarian Neoplasms --- Ovarian Neoplasms --- Genetic Testing --- Genomics --- Models, Genetic. --- diagnosis. --- genetics. --- methods. --- methods.
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Thromboembolism --- Human chromosome abnormalities --- Venous Thromboembolism. --- Factor V --- Genetic Testing. --- Predictive Value of Tests. --- Diagnosis --- genetics.
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Over the last twenty years, genome-wide association studies (GWAS) have revealed a great deal about the genetic basis of a wide range of complex diseases and they will undoubtedly continue to have a broad impact as we move to an era of personalised medicine. This authoritative text, written by leaders and innovators from both academia and industry, covers the basic science as well as the clinical, biotechnological and pharmaceutical potential of these methods. With special emphasis given to highlighting pharmacogenomics and population genomics studies using next-generation technology approaches, this is the first book devoted to combining association studies with single nucleotide polymorphisms, copy number variants, haplotypes and expressed quantitative trait loci. A reliable guide for newcomers to the field as well as for experienced scientists, this is a unique resource for anyone interested in how the revolutionary power of genomics can be applied to solve problems in complex disease.
Genetic Testing. --- Genomics. --- Génomique. --- Genome-Wide Association Study. --- Étude d'association pangénomique. --- Medical genetics. --- Génétique médicale. --- Genomics.
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Genetic Counseling. --- Genetic Testing. --- Medical Laboratory Personnel. --- Genomics. --- Conseil génétique. --- Dépistage génétique. --- Génomique. --- Techniciens de laboratoire. --- Médecine --- Laboratoires.
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The science of human genetics has advanced at an exponential pace since the double-helix structure of DNA was identified in 1953. Within only 25 years of that discovery, the first gene was sequenced. Subsequent efforts in the span of a few decades have brought advanced next-generation sequencing and new tools for genome editing, allowing scientists to write and rewrite the code of life. We are now realizing that genetics represents yet another system of information technology that follows Moore’s law, stating that computer processing power roughly doubles every two years. Importantly, with such rapid and sophisticated advancements, any tools or studies applicable to adult genetics can now also be applied to embryos.Genetic disorders affect 1% of live births and are responsible for 20% of pediatric hospitalizations and 20% of infant mortality. Many disorders are caused by recessive or X-linked genetic mutations carried by 85% of humans. Because assisted reproduction has armed us with technologies like in vitro fertilization that provide access to human embryos, we began to screen some genetic diseases simply by selecting sex. The first live births following preimplantation genetic testing (PGT) to identify sex in X-linked disease were reported by Alan Handyside in 1990. This groundbreaking work used the identification of male embryos and selective transfer of unaffected normal or carrier females as proof-of-concept to avoid genetic diseases, paving the way to extend the concept to PGT for monogenic diseases (PGT-M), including Mendelian single-gene defects (autosomal dominant/recessive, X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and HLA typing for histocompatible cord-blood stem cells’ transplantation. Later, we moved onto the identification and selection of euploid embryos by analysing all 23 pairs of chromosomes in 4–8 cells from the trophectoderm, called PGT for aneuploidy (PGT-A). PGT-A currently leverages next-generation sequencing technologies to uncover meiotic- and mitotic-origin aneuploidies affecting whole chromosomes, as well as duplications/deletions of small chromosome regions. A step forward was the use of structural chromosome rearrangements (PGT-SR) to identify Robertsonian and reciprocal translocations, inversions, and balanced vs. unbalanced rearrangements. Another advancement came with PGT for polygenic risk scoring (PGT-P). This technique takes us from learning how to read simple words to starting to understand poetry (i.e., evolving from PGT-M/A/SR to PGT-P for multifactorial, polygenic risk prediction). Moreover, we are moving from embryo selection to intervention because the genetic code is not only readable, but also re-writeable. Indeed, gene editing is now possible using tools like CRISPR/Cas9, which are applicable to all species, including human embryos.
Research & information: general --- extracellular vesicles --- exosomes --- microvesicles --- apoptotic bodies --- DNA --- preimplantation embryos --- murine blastocysts --- embryo --- uterus --- window of implantation --- PGT-A --- PGT-SR --- mosaicism --- embryo genetics --- chromosomal abnormality --- preimplantation genetic testing --- PGT-P --- polygenic risk scoring --- genomic index --- relative risk reduction --- combined preimplantation genetic testing --- Preimplantation genetic testing for monogenic disorders (PGT-M) --- Preimplantation genetic testing for aneuploidy assessment (PGT-A) --- Autosomal dominant polycystic kidney disease (ADPKD) --- male infertility --- advanced maternal age --- aneuploidy --- NGS --- segmental --- translocations --- monogenic disease --- multiplex PCR --- SNP array --- genome editing --- genetic diseases --- embryos --- vitrification --- ovarian response --- female age --- genetic testing --- reproductive health --- next-generation sequencing --- whole exome sequencing --- perinatal care --- infertility --- aneuploidies --- polygenic disease --- blastocyst --- endometrium --- implantation
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Cattle --- Fertility --- Mutation. --- Genetic Testing --- Bovins --- Fécondité --- Mutation (biologie) --- Dépistage génétique --- genetics. --- embryology. --- methods. --- Génétique. --- Embryologie. --- Chez les animaux. --- Méthodologie. --- Mutation --- genetics
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De plus en plus de tests génétiques sont proposés en consultation. Certains précisent les risques de développer des maladies comme les cancers, maladies cardiovasculaires ou neurodégénératives – et permettent d'espérer les contrer. Les services de santé et les médias ne manquent d'ailleurs pas d'appeler chacun à ses responsabilités et invitent à agir. Toutefois, les patients ayant consulté en génétique témoignent souvent d'une trop grande pression exercée sur eux quant à leurs responsabilités. Faut-il connaître ses prédispositions génétiques ? Pour répondre à cette question, on ne saurait tenir compte seulement de l'intérêt médical des tests génétiques prédictifs : l'impact sur le psychisme et sur la vie de famille mérite aussi d'être considéré. C'est la dimension proprement morale de cette question complexe que cet ouvrage s'attache à expliciter.
Philosophy, Medical --- Ethics, Medical --- Genetic Testing --- Precision Medicine --- Disease Susceptibility --- Dépistage génétique --- Médecine prédictive --- Médecine --- Éthique médicale --- Prédisposition (médecine) --- ethics --- Aspect moral --- Philosophie
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Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
Professional ethics. Deontology --- Human genetics --- medische genetica --- bio-ethiek --- medische ethiek --- Human genetics. --- Medicine. --- Bioethics. --- Genetic Testing. --- Bioethical Issues. --- Molecular Diagnostic Techniques. --- Anomalies cromosòmiques --- Diagnòstic
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