Review ArticleGenomic and personalized medicine: foundations and applications
Section snippets
What is Genomic Medicine?
Simply defined, genomic medicine is the use of information from genomes (from humans and other organisms) and their derivatives (RNA, proteins, and metabolites) to guide medical decision making. The prospect of examining a person's entire genome (or at least a large fraction of it) to make individualized risk predictions and treatment decisions is now possible. Many patterns of gene expression across the entire genome are also now readily assayed. Thus, health and disease states can now be
What is Personalized Medicine?
Personalized medicine is a broad and rapidly advancing field of health care that is informed by each person's unique clinical, genetic, genomic, and environmental information. Health care that embraces personalized medicine is an integrated, coordinated, evidence-based approach to individualizing patient care across the continuum (from health to disease). Personalized medicine depends on using multidisciplinary health care teams to promote health and wellness, patient education and
Health risk assessment (HRA)
A fundamental component of personalized medicine is a standard HRA to evaluate an individual's likelihood of developing the most common chronic diseases (or disease events). Evidence-based HRAs coupled with predictive models will facilitate assessment and prioritization of a patient's disease risk. One of the most widely recognized HRAs is the Framingham Coronary Heart Disease Model, which was developed from the Framingham Heart Study that began in 1948.4 The Gail model and its modified
Applications of Genomics and Personalized Medicine
Along the continuum from health to disease (as shown in Fig 130), there are now several important time points at which genomic applications are personalizing health care.28, 29 Disease susceptibility and risk can now be quantified and anticipated during health and even at birth using “stable genomics” or DNA-based assessments that do not change over a person's lifetime. The other ‘omics that are dynamic and interact with and respond to environmental stimuli, lifestyles, diets, and pathogens are
Personal Genomics
At the heart of the genomic approach to personalized medicine will be information from individual genomes, which is a fast-moving area of technological development that is spawning a social and information revolution among consumers. Dramatic improvements in sequencing technology51 have reduced the cost and time of resequencing projects to a level that invites conjecture about the long awaited “$1000 genome.”52, 53, 54 The advances in single-nucleotide polymorphism (SNP) technology that are
Integration of Genomic Testing into Clinical Practice
Despite the optimism expressed regarding the impact that genomic testing might have on medicine, many barriers must be overcome to their integration into clinical practice. That the incorporation of genetics and genomics into patient management guidelines has largely failed to occur thus far can likely be attributed to 3 realities. First, researchers, diagnostic firms, and the regulatory authorities are still seeking to establish methodologies by which to judge their effectiveness. Second,
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