How do busy doctors diagnose hereditary disorders when there are thousands of hereditary diseases to memorize?

We were one of the first groups to demonstrate that tumor sequencing that is performed as part of “standard of care” for patients with blood cancer may offer clues to the presence of hereditary blood cancer syndromes. We have developed a protocol at the University of Chicago to mine pre-existing clinical data for otherwise overlooked hereditary diseases. We use this protocol to improve clinical care and inform the research in our laboratory.