Predictive Value of Whole Genome Sequencing Questioned, The Burrill Report

With the rapid drop in the cost of whole genome sequencing, there is widely held hope that we will be entering an era of medicine that will allow doctors to predict and prevent disease in part through the information they glean from an individual’s genome. But a new study raises questions about its predictive value.

In a study published in Science Translational Medicine, researchers at Johns Hopkins University used records on thousands of identical twins in registries in several Northern European countries, as well as a registry of twins held by the National Academy of Sciences. Identical twins have matching genomes. The researchers looked at how well the genome predicted an individual’s disease by seeing how often an individual with a specific disease had a twin who also suffered from the same disease. They argue that such an approach would suggest how well genome sequencing could predict risk for disease.

“We believe that genomic tests will not be substitutes for current disease prevention strategies," says Bert Vogelstein, professor of Oncology at the Johns Hopkins Kimmel Cancer Center, co-director of the Ludwig Center for Cancer Genetics. “Prudent screening, early diagnosis and prevention strategies, such as not smoking and removing early cancers, will be the keys to cutting disease death rates.”

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