I am a board-certified molecular geneticist with a special interest in cancer genetics. As the director of the Diagnostic Molecular Genetics Laboratory at Memorial Sloan-Kettering, I am responsible for supervising the molecular diagnostic testing for inherited disorders — in particular the inherited forms of breast, ovarian, colorectal, and other types of cancers. The identification of genetic alterations enables better medical management options that can reduce risk through prevention or early detection. I have led the development and implementation of various new diagnostic genetic tests. I also oversee strategic planning for the laboratory's technologies, instrumentation, staffing, budget, and regulatory issues.
I am actively involved in the International Collaboration for Clinical Genomics (ICCG). ICCG is a group of laboratory directors, physicians, genetic counselors, researchers, and others dedicated to raising the standard of patient care by improving the quality of genomic testing. Along with ClinVar and several other projects, we aim to develop a framework for evaluating genetic variants. I am especially interested in classification of variants identified in cancer related genes (tumor suppressors and oncogenes).