Home > Research

Research

Ongoing 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 and Dr. M. Susan Lindee.
- 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.
- Uncertainty and Prenatal CGH Microarray testing: Patient and provider perspectives: A 2010 CIGHT funded pilot project awarded to Barbara Bernhardt, MS, CGC of the Department of Medicine at Penn.
- Impact of Genetic Testing for Risk Assessment in Cardiovascular Disease: This is a 2011 CIGHT funded pilot project exploring the impact of genetic testing in cardiovascular disease (CVD) risk assessment. Investigators on this project include Barbara Bernhardt, MS, CGC, Co-Director of Penn CIGHT; and Daniel Rader, MD, Professor of Medicine and Pharmacology, Director of Penn's Preventive Cardiovascular Medicine and Lipid Clinic.
- Parental decision-making regarding genetic testing of and communication with children and adolescents for germline mutations in the TP53 tumor suppressor gene: A 2011 CIGHT funded pilot project awarded to Kim Nichols, MD, Associate Professor of Pediatrics at CHOP.
- Population perspectives on potential secondary consequences of genetic testing: a focus group study on the relationship between Gaucher disease carrier screening and Parkinson disease risk: A 2011 CIGHT funded pilot project awarded to Vivianna Van Deerlin, MD, PhD, Director of the Molecular Pathology Laboratory.
- Applying Genomic Sequencing in Pediatrics: A collaboration with Nancy Spinner and Ian Krantz at CHOP, this project will bring genomic sequencing into a pediatric clinical setting by developing tools to educate and consent patients for testing, carrying out and interpreting the sequencing data, and assessing the impact of testing on patients, families and providers. Barbara Bernhardt will study the ethical and psychosocial implications of genomic sequencing in pediatric populations.
- The Impact of Uncertainty in Genome-wide Testing for Autism Spectrum Disorder: The study will investigate the psychosocial impact of chromosomal microarray testing on parents of children with Autism Spectrum Disorders, and identify potential interventions for managing the uncertainty associated with the test results and their implications. This project is led by Dr. Marian Reiff.
- Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis: A collaboration with Ronald Wapner, Columbia University, Barbara Bernhardt will lead the Upenn portion of the study aimed at assessing the needs of women undergoing prenatal microarray testing, and seeking to understand how women make decisions about their pregnancies in the face of positive prenatal microarray findings.
Completed Projects
- 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.
- 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.
- Uveal Melanoma: Exploring Patients’ Desire for a Personalized Risk Assessment of Developing Metastatic Disease through Genetic Testing: A 2010 CIGHT funded pilot project awarded to Arupa Ganguly, PhD of the Department of Genetics at Penn.
- Gaucher disease carrier screening’s impact on Parkinson disease risk: Current practices, awareness, and attitudes of prenatal healthcare providers: A 2010 CIGHT funded pilot project awarded to Vivianna Van Deerlin, MD, PhD of the Department of Pathology and Laboratory Medicine at Penn.