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Penn wins $5M to start center for ethical, legal and social implications research

PHILADELPHIA A new Center for Excellence in Ethical, Legal and Social Implications (ELSI) Research has been established at the University of Pennsylvania School of Medicine, a collaboration with the Schools of Nursing and Arts and Sciences, the Wharton School and the Annenberg School for Communication.

The Penn Center for the Integration of Genetic Healthcare Technology (Penn CIGHT) will receive over $5 million over the next five years from the National Institutes of Health to study the certainty or uncertainty of results from genetic testing.

The University of Pennsylvania and the Childrens Hospital of Philadelphia have outstanding expertise in studying the human genome and the causes of genetic diseases, and in the care, counseling and treatment of people with hereditary diseases, says Center director Reed Pyeritz, MD, PhD, Director of the Division of Medical Genetics at the Penn School of Medicine. However, this expertise is spread over many centers and departments in multiple institutions. This grant begins the process of bringing together not only these people, but enabling them to interact with faculty and students from multiple disciplines from the wider university.

The overall goal of the Penn CIGHT is to develop tools that will help educate consumers, professionals, policy makers, and insurers understand and cope with the certainty or uncertainty of results from genetic technologies. Team members will conduct original research to evaluate genetic technologies including:

  • an historical and sociological analysis of the ethical, legal, and social consequences of prenatal testing in the areas of cystic fibrosis and Down syndrome, led by Ruth Schwartz Cowan, PhD, Chair of the Department of the History and Sociology of Science,

  • an assessment of patient and provider perceptions 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, MS, Clinical Associate Professor of Medicine, and

  • 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 Chanita Hughes-Halbert, PhD, Associate Professor of Psychiatry.

Penn CIGHT is part of the National Human Genome Research Institute (NHGRI)s announcement earlier this month about the establishment of two new ELSI centers to address the most critical ethical, legal and social questions relating to genetics faced by clinicians, researchers, and patients. The other new center will be at the University of North Carolina-Chapel Hill.

Examining the emerging ethical, legal and social implications of genomic research is central to our goal of safely and effectively moving discoveries into the clinic, said NHGRI Director Francis S. Collins, MD, PhD. These centers will work to identify and address the most pressing issues being confronted by individuals, families, and communities as a result of genetic and genomic research.

The work of the new Penn center will be conducted by a team of experts representing a broad range of disciplines, such as medicine, bioethics, law, behavioral and social sciences, clinical research, public policy, economics, and genetic and genomic research. The interdisciplinary nature of this team will allow the center to develop innovative research approaches focused on specific sets of issues that relate to the numerous applications and uses of genomic research, technologies, and information. The Center will also train investigators in methods to evaluate the implications and utility of future genetic technologies and discoveries.

The new Penn center will give us the structure and resources needed to respond quickly to the clinical integration of new genetic discoveries, say Bernhardt, a genetic counselor. Our goal is to gather data that will allow us to make recommendations to ensure that the clinical applications of new genetic technologies result in the maximal benefit to the most people with the least associated risk and misunderstanding.


Contact: Karen Kreeger
University of Pennsylvania School of Medicine

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