THE GORDON WILSON LECTURE: CANCER GENE VARIANT (RE)CLASSIFICATION: FROM TRUTHINESS TO TRUTH

摘要

The new genetics, defined as that which followed the completion of the human genome project and includes development of rapid and cheaper next-generation sequencing (NGS), is impacting our medical world in several ways (). As is the case in any new area of medicine, the field is infused with “truthiness,” where instead, what is needed for good patient care and scientific rigor is an effort to close in on the truth. Today, I’ll discuss how variation in the human genome is being evaluated and re-evaluated as we sequence more and more of our patients’ genes.