Structural Genomic Variation and Personalized Medicine

Large-scale genomic deletions, duplications, and inversions represent a major source of variation among persons; thus, new approaches to probing disease susceptibility are warranted. The ultimate goal of personalized medicine is to comprehensively identify genetic differences among persons and to co...

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Bibliographic Details
Published inThe New England journal of medicine Vol. 358; no. 7; pp. 740 - 741
Main Authors Lee, Charles, Morton, Cynthia C
Format Journal Article
LanguageEnglish
Published United States Massachusetts Medical Society 14.02.2008
Subjects
Chromosome Mapping
Deoxyribonucleic acid
DNA
Gene expression
Genetic testing
Genetic Variation
Genetics
Genome, Human
Genomes
Genomics
Humans
Hypertension - genetics
Hypertension - therapy
Mutation
Pharmacogenetics
Precision medicine
Sequence Analysis, DNA - economics
Sequence Analysis, DNA - methods
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Summary:Large-scale genomic deletions, duplications, and inversions represent a major source of variation among persons; thus, new approaches to probing disease susceptibility are warranted. The ultimate goal of personalized medicine is to comprehensively identify genetic differences among persons and to correlate specific genetic features (or combinations of genetic features) with the differential risk of human diseases or the efficacy of certain therapeutic interventions. This goal is likely to be achieved when we are able to identify all relevant forms of genetic variation in each person and are able to interpret this information in a clinically meaningful manner. The Human Genome Project revealed a very high degree of similarity between the DNA sequences of any two persons. These similarities unite us as a species. On . . .
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ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMcibr0708452