By John Lauerman - 2012-06-14T16:00:01Z

Screening the genomes of healthy people may give important clues about their cancer risk, according to a study that suggests advanced DNA technology might be employed early in a patients health assessment.

Among 572 people who underwent a broad analysis, 12 were found to have genes that put them or their children at elevated risk of dangerous tumors, according to the report from researchers at the U.S. National Human Genome Research Institute in Bethesda, Maryland. Eight of the participants had no family history of cancer that doctors normally look to for signals of heightened susceptibility to malignancies, the study said.

The research, released today by the American Journal of Human Genetics, highlights the role that sequencing machines made by Illumina Inc. (ILMN) and Life Technologies Corp. (LIFE) may play in alerting healthy individuals to their risk of disease. The machines can decipher swaths of human DNA in hours, giving massive amounts of information about inherited traits.

The current medical approach for finding susceptibility to disease requires that you or your family members have the condition or have died of it, said Leslie Biesecker, chief of the genetics disease research branch at the Human Genome Research Institute, in a telephone interview. This suggests that it doesnt have to be that way, that we can find susceptibility before all that suffering.

Bieseckers study, called ClinSeq, sequences all the genes in participants DNA to find clues to health and disease. About 1 percent of the human genome, the reproductive code found in each cell, is composed of genes, which are the blueprints for making proteins.

The researchers screened 37 genes in participants DNA for changes that have been linked to cancers. The screen yielded 334 variants of potential clinical importance, most of which were associated with unknown cancer risk.

Eight participants were found to have gene mutations that significantly elevated their risk. Seven had changes in the BRCA1 and BRCA2 genes that sometimes appear in families affected with high rates of breast and ovarian cancer, the study said.

Another participant had a mutation in a gene called SDHC, which has been linked to head and neck tumors that sometimes cause severe nerve damage. This person, along with three of those with BRCA1 and BRCA2 mutations, had no family history of the cancers related to these genes.

This demonstrates that theres fairly high frequency of useful information that one can gain from the whole exome or whole genome, said Robert Nussbaum, chief of the division of medical genetics at the University of California, San Francisco.

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