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Research
- Projects
- Historical, Ethnographic and Public Opinion Studies of Prenatal Screening and Risk Assessment: an historical and sociological analysis of the ethical, legal, and social consequences of prenatal testing for cystic fibrosis and Down syndrome, led by Dr. Ruth Schwartz Cowan.
- Utilization and Impact of a New Diagnostic Test for Hereditary Hemorrhagic Telangiectasia (HTT): an assessment from the perspectives of patients, providers and third party payers of the utility of a genetic test to identify the likelihood of future disease susceptibility, using HHT, a single gene disorder, as an example, led by Barbara Bernhardt, Clinical Associate Professor of Medicine.
- Long-term Behavioral Impact of Genetic Counseling and Testing for BRCA1/2: an evaluation of the long-term psychological, social, and medical effects of genetic testing and counseling for breast cancer on African American women and their families, led by Dr. Chanita Hughes-Halbert, Associate Professor of Psychiatry.
- Understanding the Meaning and Impact of Genome-wide, Array-based Testing for Children and Families: An exploration of the implications of receiving array-based cytogenomic genetic test results and the uncertainty that the results create for patients, their families, and their healthcare providers. This project is led by Dr. Marian Reiff.
- Assessing Attitudes about the Utility of Personal Genomics: A collaboration between researchers at the University of Pennsylvania and the Coriell Institute’s Personalized Medicine Collaborative (CPMC) to evaluate the public’s perceptions of and responses to personalized risk assessment. Investigators on this project include Barbara Bernhardt, Co-Director of Penn CIGHT; Dr. Sarah Gollust, Postdoctoral Researcher in the Robert Wood Johnson Foundation Health & Society Scholars Program; and Erynn Gordon, Director of Genetic Counseling at Coriell Institute.
- Center Publications and Presentations
- Bernhardt B, Zayac C, Keddem S, Pyeritz R. Will Genetic Testing Aid Diagnosing Relatives at- risk? An Exploratory Study. 8th Annual HHT Scientific Conference, May 27-31, 2009. Oral Presentation.
- Bernhardt B, Gordon E, Gollust S, Keddem S, Zayac C, Pyeritz R. Why are people interested in personalized genomic risk information? American Society of Human Genetics 59th Annual Meeting, October 20-24, 2009. Oral Presentation.
- Pyeritz R, Asch D, Zayac C, Keddem S, Bernhardt, B. Cost Savings through Molecular Diagnosis for HHT. American Society of Human Genetics 59th Annual Meeting, October 20-24, 2009. Poster Presentation.