James P. Evans, MD, PhD

My interests lie within the field of clinical cancer genetics, the use of high-throughput sequencing in clinical medicine and public policy as it relates to genetics. I direct the Clinical Adult and Cancer Genetics Services at the University of North Carolina. In this clinic we evaluate and counsel patients who have (or are suspected of having) a variety of genetic conditions, including high risk for cancer. This comprehensive clinic provides evaluation, counseling and risk assessment through pedigree analysis and genetic testing when appropriate. The clinic has grown substantially since its inception and we now see, on average, approximately 20 patients per week in consultation. While breast/ovarian cancer comprises the bulk of our activity, we see numerous patients with elevated risk for a great variety of different conditions and malignancies. Genetic testing is performed in-house for BRCA1/2.

My research interests focus primarily on the use of massively parallel DNA sequencing for gene discovery and the use of such technology for clinical diagnosis. I am also interested in attitudes towards the use of genetic information. These interests are combined in a current effort in which whole exome sequencing is being pursued in a large number of patients with a variety of indications.

I am also interested in policy issues as they relate to genetics. Towards this end, I have been highly active in scientific education of the US judiciary at the State Supreme Court and Federal level, as well as at the Supreme Court level internationally. These efforts were described in an article in the New York Times in 2008. My activity in policy issues resulted in testimony before the US Congress in 2010 regarding the regulation of direct-to-consumer genetic testing. I was a member of the advisory committee to the US Secretary of Health and Human Services on Genetics, Health and Society and spearheaded that committee’s task force that investigated gene patenting and its effect on patient care.