Although the price of genome sequencing is rapidly becoming more affordable to the general population, to what extent these tests will impact a person’s lifestyle and medical treatment choices remains unclear. By analyzing life-long data collected from thousands of twins, researchers led by renowned Johns Hopkins oncologist Bert Vogelstein tested how well whole genome sequencing could predict an individual’s risk of developing 24 common diseases.
Their analysis, published today (April 2) in Science Translational Medicine, showed that most people are likely to get negative results for the majority of the diseases studied, thus failing to provide any actionable information. For example, while sequencing tests are effective at predicting cancer risks in people with hereditary cancers, they are not as informative for people who lack a family history of the disease.
"In families with strong histories of cancer, whole genome sequencing can still be very informative for identifying inherited genes that increase cancer risk," Victor Velculescu, a professor of oncology at Johns Hopkins, said in a press release. "But hereditary cancers are rare. Most cancers arise from mutations acquired through environmental exposures, lifestyle choices, and random mistakes in genes that occur when cells divide."
The results suggest that genome sequencing is not likely to displace other preventive measures any time soon. "We need other strategies,” Vogelstein said today at the American Association for Cancer Research (AACR) annual meeting in Chicago. “My favorite is early detection."