From genome-wide association studies (GWAS) to sequencing-based studies, the exploration and application of disease genomics, disease epigenomics, microbiome genomics, immunogenomics, pharmacogenomics, proteomics in medicine, and systems medicine are all becoming considered for personalized medical care. Providers in nearly every clinical setting are recognizing its benefits. Genomic medicine is a solution for smarter patient care delivery.

Pharmacogenetic Testing

Genetic screening is being performed at an extraordinary scale and many variant genotypes can now be easily interpreted. Initiatives, such as Harvard Medical School’s Personal Genome Project, are sequencing the genomes of thousands of adults, collecting information on their phenotypic characteristics and developing computational models to identify the most important variant genotypes carried by each individual.Such databases incorporate allele frequency annotations and bioinformatics classifications that can be used to dynamically produce new associations when searching for genetic links to known diseases. Now, these various information sources can be integrated in order to calculate the probability of an individual having specific characteristics of clinical risk.

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Genetics of Drug Metabolism

Genomic testing is used predictively to determine the risk of developing common diseases, and pharmacogenetic tests are used to help identify genetic variations that influence a person’s response to medicines.A growing number of tests are being developed to identify multiple genes that modify a person’s risk of common chronic diseases such as diabetes, cancer and hypertension.Clinical application of these genomic technologies helps prevent common diseases and improve the health of individuals. Genetic tests have now been established for thousands of disease states.Genetic tests can identify gene variants of drug metabolizing enzymes, single genes, and mutations of protective genes responsible for some inherited cancers other chronic diseases.

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