Bennett McIntosh in Harvard Magazine:
AS A MEDICAL STUDENT in the 1980s, Isaac “Zak” Kohane heard stories—from patients, mentors, and colleagues—of nearly miraculous recoveries from cancer. A patient given weeks to live instead survives for years. An experimental drug works exceptionally well—in only one patient. Or, most controversially, a patient rejects chemotherapy, radiation, and surgery, and somehow lives. As a trainee, Kohane found many such stories quite literally unbelievable. “Frankly,” he says, “I assumed that they didn’t really have a cancer.” Now Nelson professor of biomedical informatics at Harvard Medical School (see “Toward Precision Medicine,” May-June 2015, page 17), Kohane not only believes these stories, he’s seeking them out. A year ago, he began a project to find “exceptional responders” to cancer treatment—those who have beaten the cancer odds many times over—in order to figure out what makes them special.
He was inspired initially by a very different group of patients. Since 2014, Kohane has coordinated a nationwide program to study and aid patients whose affliction with rare, undiagnosed diseases mark them as statistical outliers. “Outliers, by definition, are interesting,” he explains, because they are different from everybody else, “so there are things to be learned. By finding these outliers, we have been able to make breakthroughs both for the patient but also scientifically,” diagnosing more than 300 patients suffering from newly discovered genetic diseases in five years.