Elsevier

Translational Research

Volume 154, Issue 6, December 2009, Pages 277-287
Translational Research

Review Article
Genomic and personalized medicine: foundations and applications

https://doi.org/10.1016/j.trsl.2009.09.005Get rights and content

The last decade has witnessed a steady embrace of genomic and personalized medicine by senior government officials, industry leadership, health care providers, and the public. Genomic medicine, which is the use of information from genomes and their derivatives (RNA, proteins, and metabolites) to guide medical decision making—is a key component of personalized medicine, which is a rapidly advancing field of health care that is informed by each person's unique clinical, genetic, genomic, and environmental information. As medicine begins to embrace genomic tools that enable more precise prediction and treatment disease, which include “whole genome” interrogation of sequence variation, transcription, proteins, and metabolites, the fundamentals of genomic and personalized medicine will require the development, standardization, and integration of several important tools into health systems and clinical workflows. These tools include health risk assessment, family health history, and clinical decision support for complex risk and predictive information. Together with genomic information, these tools will enable a paradigm shift to a comprehensive approach that will identify individual risks and guide clinical management and decision making, all of which form the basis for a more informed and effective approach to patient care. DNA-based risk assessment for common complex disease, molecular signatures for cancer diagnosis and prognosis, and genome-guided therapy and dose selection are just among the few important examples for which genome information has already enabled personalized health care along the continuum from health to disease. In addition, information from individual genomes, which is a fast-moving area of technological development, is spawning a social and information revolution among consumers that will undoubtedly affect health care decision making. Although these and other scientific findings are making their way from the genome to the clinic, the full application of genomic and personalized medicine in health care will require dramatic changes in regulatory and reimbursement policies as well as legislative protections for privacy for system-wide adoption. Thus, there are challenges from both a scientific and a policy perspective to personalized health care; however, they will be confronted and solved with the certainty that the science behind genomic medicine is sound and the practice of medicine that it informs is evidence based.

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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