Medicine and Genomics

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Science  16 Feb 2001:
Vol. 291, Issue 5507, pp. 1155
DOI: 10.1126/science.291.5507.1155e

From SNP maps to individual drug response profiling, the human genome sequence should lead to improved diagnostic testing for disease-susceptibility genes and individually tailored treatment regimens for those who have already developed disease symptoms. Peltonen and McKusick (p. 1224) discuss how the human genome sequence and the completed genome sequences of other organisms will expand our understanding of human diseases, both those caused by mutations in a single gene and those where many genes and multiple factors are involved.

Behavioral variations among individuals, and behavioral disorders generally have a large and complex genetic component, according to studies with twins and adopted children. It has been difficult to identify genes, each of which may only contribute a small amount to the phenotype, in these complicated systems, but the availability of multiple complete human genome sequences will now facilitate the application of methods such as allelic association. McGuffin et al. (p. 1232) argue that a greater understanding of the biological bases of behavioral disorders will destigmatize such diseases.

One of the most difficult issues is determining the proper balance between privacy concerns and fair use of genetic information. Although U.S. federal law does provide some protection against discrimination in health insurance, continued scrutiny is needed. Senators Jeffords and Daschle (p. 1249) argue that policies protecting confidentiality in employment, research, and genetic testing (particularly in the reproductive sciences) should be developed and put into federal law. Eventually every country must decide what genetic information should be protected, who will have access to it, and how it may be used.

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