Anthony J Scott, MD, PhD

My clinical interests revolve around the provision of clinical genetics care to the adult population. This includes clinical time spent between Adult Medical Genetics and Cancer Genetics. I initiated a clinical cancer genetics program at the VA Ann Arbor Healthcare System, where I have a partial clinical appointment. I am especially interested in providing cancer genetic counseling services to the Veteran community and performing cancer surveillance of individuals with hereditary cancer syndromes. Additionally, I am coordinating the return of over 2,000 clinically actionable results identified as part of the Michigan Genomics Initiative.

My main research interest deals with improving clinical variant interpretation via a high-throughput method called deep mutational scanning to interrogate thousands of variants simultaneously. Primarily, this involves the use of a cellular model to identify pathogenic variants in Lynch Syndrome, a hereditary cancer syndrome, to help reclassify variants of uncertain significance recovered from clinical genetics testing. I am also applying these methods to an endometrial cancer model to determine how different mutations can affect tumor development and/or treatment efficacy. Moreover, I am participating in research collaborations with Ambry Genetics to identify novel variants associated with Peutz-Jeghers and Juvenile Polyposis Syndromes, as well as with Karmanos Cancer Institute to improve variant classification in African-American cancer patients.