Scripps Genomic Health Initiative
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Scripps Genomic Health Initiative
The Scripps Genomic Health Initiative (SGHI) is a large scale study aimed at understanding how personal genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ... influences and improves health. Led by Dr. Eric Topol, director of the San Diego-based Scripps Translational Science Institute, the 20-year initiative will determine whether patients make an effort to improve their lifestyle and get regular checkups after learning their genetic predisposition for many common diseases. Researchers will also assess the psychological impact of genomic testing, and whether those who do it are able to prevent or delay disease by taking action after getting their results. The study was launched in October 2008 and will follow more than 10,000 adults. A consortium of health care, technolog ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, ...
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Eric Topol
Eric Jeffrey Topol (born 26 June 1954) is an American cardiologist, scientist, and author. He is the founder and director of the Scripps Research Translational Institute, a professor of Molecular Medicine at The Scripps Research Institute, and a senior consultant at the Division of Cardiovascular Diseases at Scripps Clinic in La Jolla, California. He is editor-in-chief of Medscape and ''theheart.org''. He has published three bestseller books on the future of medicine: ''The Creative Destruction of Medicine'' (2010), ''The Patient Will See You Now'' (2015), and ''Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again'' (2019). He was also commissioned by the UK 2018–2019 to lead planning for the National Health Service's future workforce, integrating genomics, digital medicine, and artificial intelligence. In 2016, Topol was awarded a US$207 million grant from the National Institutes of Health to lead a significant part of the Precision Medicine Initiative (A ...
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Navigenics
Navigenics, Inc. was a privately held personal genomics company, based in Foster City, California, that used genetic testing to help people determine their individual risk for dozens of health conditions.Navigenics, Inc"Navigenics launches Health Compass service." Retrieved 2008-10-15. History Navigenics was co-founded in 2006 by David Agus, M.D., a prostate cancer specialist who is a Professor of Medicine at the University of Southern California and Director of the USC Center for Applied Molecular Medicine and the USC Westside Prostate Cancer Center in Los Angeles, and Dietrich Stephan, Ph.D., member of the Board of Directors of the Personalized Medicine Coalition, current CEO of Silicon Valley Biosystems, former Chairman of Neurogenomics and Deputy Director for Discovery Research at the Translational Genomics Research Institute. In July 2012, Navigenics was acquired by Life Technologies, which was acquired by Thermo Fisher Scientific in February, 2014. Controversy ...
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Affymetrix
Affymetrix is now Applied Biosystems, a brand of DNA microarray products sold by Thermo Fisher Scientific that originated with an American biotechnology research and development and manufacturing company of the same name. The Santa Clara, California-based Affymetrix, Inc. now a part of Thermo Fisher Scientific was co-founded by Alex Zaffaroni and Stephen Fodor. Stephen Fodor and his group, based on their earlier development of methods to fabricate DNA microarrays using semiconductor manufacturing techniques. In 1994, the company's first product under the "GeneChip" Affymetrix trademark, an HIV genotyping chip was introduced, and the company went public in 1996. After incorporation, Affymetrix grew in part by acquiring technologies from other companies, including Genetic MicroSystems (slide-based Microarrays and scanners) and Neomorphic (for bioinformatics) in 2000, ParAllele Bioscience (custom SNP genotyping), USB/Anatrace (biochemical reagents) in 2008, Panomics (low to mid-pl ...
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Microsoft
Microsoft Corporation is an American multinational technology corporation producing computer software, consumer electronics, personal computers, and related services headquartered at the Microsoft Redmond campus located in Redmond, Washington, United States. Its best-known software products are the Windows line of operating systems, the Microsoft Office suite, and the Internet Explorer and Edge web browsers. Its flagship hardware products are the Xbox video game consoles and the Microsoft Surface lineup of touchscreen personal computers. Microsoft ranked No. 21 in the 2020 Fortune 500 rankings of the largest United States corporations by total revenue; it was the world's largest software maker by revenue as of 2019. It is one of the Big Five American information technology companies, alongside Alphabet, Amazon, Apple, and Meta. Microsoft was founded by Bill Gates and Paul Allen on April 4, 1975, to develop and sell BASIC interpreters for the Altair 8800. It rose to do ...
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Full Genome Sequencing
Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast. Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014. In the future of personalized medicine, whole genome sequence data may be an important tool to guide therapeutic intervention. The tool of gene sequencing at SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response. Whole genome sequencing should not be confused with DNA profilin ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, ...
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Personal Genomics
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk. Automated high-throughput sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer whole genome sequencing including interpretation to consumers since 2015 for less than $1,000. The emerging market of direct-to-consumer genome sequencing services has brought new questions about both the medical efficacy and the ethical dilemmas associated with widespread knowledge of individual genetic information. In personalized medi ...
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Genomics
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of ''individual'' genes and their roles in inheritance, genomics aims at the collective characterization and quantification of ''all'' of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in ...
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Medical Tests
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic testing, chemical and cellular analysis, relating to clinical chemistry and molecular diagnostics, are typically performed in a medical setting. Types of tests By purpose Medical tests can be classified by their purposes, the most common of which are diagnosis, screening and evaluation. Diagnostic A diagnostic test is a procedure performed to confirm or determine the presence of disease in an individual suspected of having a disease, usually following the report of symptoms, or based on other medical test results. This includes posthumous diagnosis. Examples of such tests are: * Using nuclear medicine to examine a patient suspected of having a lymphoma. * Measuring the blood sugar in a person suspected of having diabetes mellitus after ...
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