Most, if not all, human diseases have one or more genetic factors that contribute to cause, likelihood of occurrence, severity, and response to existing or experimental treatments. There is a general perception that the ability to define a person's genetic makeup will lead to better health, improved treatments and a better understanding of risks to other family members. However, many genetic technologies increase uncertainty and confusion in the minds of patients, relatives, doctors, health insurers and others. The Penn CEER will define these issues better and offer suggestions for reducing the problems of uncertainty. The overall goal of the Center of Excellence for Ethical, Legal and Social Research at the University of Pennsylvania (Penn CEER) is to develop tools that will help consumers, professionals, policy makers and insurers understand and cope with the scope of certainty and uncertainty that genetic technologies engender. We propose to establish three cores to support transdisciplinary ELSI research and plan to study three situations at the outset. The initial studies will be: 1) To explore the evolution of prenatal screening for Down syndrome and cystic fibrosis carrier screening through a collaboration between historians of science, medical anthropologists, reproductive geneticists, prenatal care providers and women of reproductive age;2) To utilize the Penn Center of Excellence for Hereditary Hemorrhagic Telangiectasia to explore the impact of presymptomatic molecular testing on the economics of caring for people at risk, and patient and provider perceptions of the utility of and barriers to testing;and 3) To follow a cohort of African-American (and other minority) women who have been counseled for testing of BRCA1 and BRCA2 to assess the longer-term psychological, social, and medical impact of risk counseling and genetic testing on themselves and their family members, with a focus on uncertainty. As part of the first two projects, group deliberations in real time will be facilitated by our investigators in the Annenberg School for Communication to explore public perceptions about the results of the formal investigations. The results of each of the three initial projects, and additional studies supported by the CEER, will be considered for dissemination through the Research-to-Policy Core, directed by colleagues in the Leonard Davis Institute of Health Economics. The Training Core of the Penn CEER will provide postdoctoral stipends, through a competitive process, which will prepare fellows to obtain further funding to develop a career in ELSI research. Additionally, the Penn CEER will serve as a resource for other Penn faculty, for other CEERs, and for individuals, volunteer support groups, payers of health care services and investigators, for educating about the implications of genetic technologies in terms of the realms of certainty.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Specialized Center (P50)
Project #
Application #
Study Section
Special Emphasis Panel (ZHG1-HGR-P (O1))
Program Officer
Boyer, Joy
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Pennsylvania
Internal Medicine/Medicine
Schools of Medicine
United States
Zip Code
Burke, Wylie; Appelbaum, Paul; Dame, Lauren et al. (2015) The translational potential of research on the ethical, legal, and social implications of genomics. Genet Med 17:12-20
Bernhardt, Barbara A; Kellom, Katherine; Barbarese, Alexandra et al. (2014) An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing. J Genet Couns 23:938-47
Wagner, Jennifer K; Mozersky, Jessica T; Pyeritz, Reed E (2014) ""Use it or lose it"" as an alternative approach to protect genetic privacy in personalized medicine. Urol Oncol 32:198-201
Reiff, Marian; Mueller, Rebecca; Mulchandani, Surabhi et al. (2014) A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice. J Genet Couns 23:474-88
Davis, Dena S (2014) Alzheimer disease and pre-emptive suicide. J Med Ethics 40:543-9
Tuteja, Sony; Haynes, Kevin; Zayac, Cara et al. (2013) Community pharmacists' attitudes towards clinical utility and ethical implications of pharmacogenetic testing. Per Med 10:
Davis, Dena S (2013) Opportunistic testing: the death of informed consent? Health Matrix Clevel 23:35-54
Reiff, M; Ross, K; Mulchandani, S et al. (2013) Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet 83:23-30
Katsanis, Sara H; Wagner, Jennifer K (2013) Characterization of the standard and recommended CODIS markers. J Forensic Sci 58 Suppl 1:S169-72
Wagner, Jennifer K (2013) Out with the ""junk DNA"" phrase. J Forensic Sci 58:292-4

Showing the most recent 10 out of 31 publications