Research
The Division of Medical Genetics has several research initiatives. All faculty members focus on clinical and translational research in hereditary disorders. Major interests include the genetics of cardiovascular diseases, urogenital cancers and syndromes that predispose to cancer.
The Penn Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT) addresses a fundamental irony of modern medical genetics practice: as the ability to analyze an individual's genome becomes more refined, the clinical uncertainty surrounding the results often increases. Current projects address:
- Long-term behavioral impact of genetic counseling and testing for BRCA1/2 in African-American women.
- Assessment from the perspectives of patients, providers and third-party payers of the utility of a genetic test to identify the likelihood of developing hereditary hemorrhagic telangiectasia.
- Exploration of the implications of receiving array-based cytogenomic test results and the uncertainty the results create for patients, their families and their healthcare providers.