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Student JAMA
April 7, 2004

The Challenges of Whole-Genome Approaches to Common Diseases

JAMA. 2004;291(13):1642-1643. doi:10.1001/jama.291.13.1642

Recent technological advances may soon enable the study of hundreds of thousands of human single-nucleotide polymorphisms (SNPs) at the population level.1 Because strategies for analyzing these data have not kept pace with the laboratory methods that generate the data, however, it is unlikely that these advances will immediately lead to an improved understanding of the genetic contribution to common human diseases. In addition, the underlying genetics of common diseases such as sporadic breast cancer or essential hypertension are far more complex than that of rare mendelian diseases such as cystic fibrosis and sickle cell anemia. As a result, several important technical challenges will need to be overcome to identify susceptibility genes that can be used to improve the prevention, diagnosis, and treatment of common diseases. These challenges include developing statistical methods to analyze genetic data, selecting appropriate genetic variables, and interpreting interactions between individual genes.

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