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September 12, 2005

Practicing Medicine at the Front Lines of the Genomic Revolution

Arch Intern Med. 2005;165(16):1815-1817. doi:10.1001/archinte.165.16.1815

There is unequivocal evidence that most common illnesses, such as coronary atherosclerosis, diabetes, many cancers, obesity, and certain psychiatric diseases (eg, schizophrenia), are due to interactions between multiple genetic and environmental factors. While humans are 99.9% genetically alike, the dissimilarities of the remaining 0.1% of the human genome contribute importantly to the occurrence of human disease. These differences are composed of about 10 million common variants (present in 1% or more of alleles) and many more rare variants. Numerous reports have implicated genetic variations in the propensity toward (or resistance to) illness and the response to medical treatment. There has been considerable success in the use of genomics for mendelian disorders such as cystic fibrosis, Huntington disease, and hereditary breast-ovarian cancer (BRCA1 and BRCA2). However, many of the most common disorders lack simple mendelian inheritance and are impacted by multiple genetic events along with complex nongenetic modulators (eg, epigenetic events from environmental factors). The Human Genome Diversity Project aims to catalog and study human variation, thereby shedding light on complex illnesses.1

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