An Evidence Framework for Genetic Testing (2017) / Chapter Skim
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1 Introduction
1 Introduction
Pages 13-18
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From page 13... ...
and those resulting from more rapid and targeted treatment, have not been well studied. Other challenges are associated with judging the medical and economic benefits and consequences of genetic testing beyond traditional health outcomes, such as information that might affect patient anxiety, motivate patient behavior, and inform personal planning.
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From page 14... ...
DNA sequencing is increasingly used to determine the sequence of individual alleles (variant3 forms of a particular 2 In 1990, Congress established funding for the Human Genome Project; it was led by the National Institutes of Health. 3 The neutral term variant is used instead of mutation or polymorphism to avoid confusion about pathogenicity (Richards et al., 2015)
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From page 15... ...
Advances in understanding of the molecular basis of rare and common disorders, the proliferation of genetic information in easily accessible databases, and bioinformatics tools for analyzing DNA sequences computationally are making precise molecular diagnosis possible and thereby enabling prevention and treatment strategies that promise to improve and individualize medicine. Thousands of disease genes and their variants are now known, and the number continues to increase (Chong et al., 2015)
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From page 16... ...
In support of the committee's discussions and deliberations, targeted literature searches were conducted, and information from relevant scientific, professional, and federal sources was gathered. It was quickly found that numerous ad hoc groups, regulatory agencies, organizations, and professional societies were developing approaches to various aspects of genetic testing and collecting and using evidence with various methods.
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From page 17... ...
There are three appendixes: Appendix A provides background on genetic variance and phenotype expression, Appendix B provides the detailed list of the Genetic testing Evidence Tracking Tool questions, and Appendix C discusses various organizations' efforts in using evidence for genetic tests. The references cited throughout the report can be found after Appendix C, followed by a glossary of important terms used in the report.
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