Cancer Genetics Program
Area of interest
I joined the Adult and Cancer Genetics group at UNC in 2009 after completing the residency program in Clinical Genetics at Baylor College of Medicine in Houston, TX. This unique four-year program was aimed at providing training broadly across all facets of Clinical Genetics and I thus have equal experience in both Pediatric and Adult genetics. In the Cancer Genetics Clinic I am primarily involved in the evaluation of individuals with a strong family history of cancer, in the hopes that we can identify the primary genetic etiology for their family’s cancer susceptibility and provide additional information that will help guide the management of these individuals. I also see patients with a wide range of conditions in the Adult Genetics Clinic.
My current research interests involve the translation of modern genetic diagnostic technologies to improved patient care. Cancer is an ideal model system for this goal, since as a whole cancer is quite prevalent and there are clearly genetic underpinnings to most types of cancer (despite the rarity of true familial cancer syndromes). In collaboration with other members of the UNC Clinical Cancer Genetics group, I am involved in a project aimed at determining a genetic etiology in families for whom clinical genetic testing has failed to explain an apparent Mendelian cancer susceptibility. We have enrolled “high risk” cancer families who have been seen in the Cancer Genetics Clinic and have had “negative” genetic testing for the known genes involved in hereditary cancer syndromes. We are now using whole genome sequencing or whole exome sequencing in order to identify candidate disease-causing variants that segregate with cancer in these families.
In addition to cancer-related interests, I am pursuing additional lines of clinical/translational investigation into the use of diagnostic and predictive testing in genomic medicine. As a co-PI of the NHGRI-funded “NCGENES” project, I am involved in examining the use of whole exome sequencing in a diagnostic setting. We are enrolling subjects with likely genetic disorders from several broad categories (cancer, cardiogenetics, neurogenetics, congenital anomalies, and retinal disorders). I am also very interested in the problem of genomic “incidental findings” that are virtually inevitable when genome-scale sequencing tests are performed.
Awards and Honors
1993 Phi Beta Kappa, Emory University
2002 Alpha Omega Alpha, The University of North Carolina at Chapel Hill
2009 Richard King Trainee Award for Best Publication in Genetics in Medicine