John Fauber | McClatchy-Tribune News Service Posted on Tuesday, April 3, 2012
CHICAGO — Researchers have found that the increasingly popular form of disease prediction testing known as whole genome sequencing fails to provide solid insight into whether someone will develop a variety of common diseases.
The analysis showed that genome sequencing could warn of at least one disease, but most people would get negative results for the majority of the 24 diseases that were studied.
Yet those negative tests would not mean they are not at risk. Indeed, they still would have risks, although 20 percent to 50 percent less than the general population.
Genome sequencing could be useful for people who do not know their family disease history, said co-author Bert Vogelstein, a professor of oncology at Johns Hopkins University.
And down the road, such sequencing is likely to become valuable, revealing risks for cancer, heart disease and Alzheimer's disease, Vogelstein said.
But if someone already knows they have a family history of those diseases, they could be tested for a specific disease-causing genetic variation, rather than having their entire genome sequenced, he said.
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Up to 2 percent of women undergoing whole genome sequencing would receive a positive test result for ovarian cancer, alerting them that they have at least a one in 10 chance of developing that cancer over their lifetime.
However, the other 98 percent who get a negative test are not guaranteed they will never get ovarian cancer.
They still would have a 1.3 percent chance of developing ovarian cancer sometime in their lives, compared with a 1.4 percent risk for the general population. In other words, the sequencing test results would be different, but the real-life experience would likely not.
"When it comes to cancer, it's genes, it's environment and it's bad luck," said Thomas Sellers, director of the Moffitt Research Institute in Tampa, Fla. Sellers was not involved in the study.