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Bert Vogelstein
Tests like these may be useful, but they fall short of revealing the cause of a disease, and they don't provide any leads to better treatments. The real bottleneck in personalized medicine, according to Golub, is still a lack of specific knowledge. “We need to know more about the molecular underpinnings of a disease so we know exactly what to measure in a patient,” he says. “We also need a mechanism to actually measure these molecules in a clinical setting before deciding on a treatment.” He calls for “more effort in early discovery.”
Bert Vogelstein, an HHMI investigator at the Johns Hopkins University School of Medicine, agrees. “The first challenge is to discover the inherited or acquired alterations in DNA that are responsible for a disease,” he declares. “In most cancers, these have not yet been discovered. Only a small fraction of the alterations that contribute to breast, prostate, lung, or other common cancers have been identified. So we act like the drunk who looked for his keys, not where he lost them, but under a lamp, where the light was good. Many other places might be better.”
He also complains that, “almost all `translational' research funds now go to find new therapeutics. This is not optimal,” he says. “Our best hope for reducing sickness and death—and health care costs—is through prevention and early detection, rather than therapies.” Vogelstein's own research has focused on early detection of cancer (see Simplified, Early Diagnostics). “One difficulty is that if you learn how to detect a cancer at a stage when it can be cured by surgery or something simple, you have to screen 100 or 500 patients to find one that you catch early,” he says. “This is not nearly as dramatic or sexy as taking a sick patient with more advanced disease and putting him or her in remission. But remember that this one patient [whose disease is caught early] will be completely cured of the cancer and won't ever die from it!” By contrast, “drugs put cancer patients in remission only for a period of time—often a surprisingly short time, and they are surprisingly expensive.”
Meanwhile, gene-based tests are becoming a big business. “There are about 1,000 gene-based tests that you could get today,” says Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins. She notes that “only a dozen of them have been reviewed and approved by the U.S. Food and Drug Administration (FDA),” and wishes the government would give more attention to the validity of such tests.
Photo: Paul Fetters
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