The rapid identification of genetic risk factors for common, complex diseases poses great opportunities and challenges for public health. Genetic information is increasingly being utilized as part of commercial efforts, including direct-to-consumer (DTC) genetic testing to provide risk information on common diseases to consumers. Very few empirical data have been gathered to understand the characteristics of DTC test consumers, the psychological, behavioral and health impact, and the ethical, legal and social issues associated with DTC services.

In 2009, 192,370 new cases of female breast cancer (BC) were diagnosed in the U.S. Of these cases, 5%- 10% were attributed to BRCA mutations. This translates to approximately 9,000 to 18,000 high-risk women who may be impacted by hereditary BC. In a given year, the number of high-risk BC patients is similar to or greater than the total number of cases of other cancers in women (e.g., oral cancer, n=10,480; stomach cancer, n=8,310; cervical cancer n=11,720; myeloma n=8,900).

The University of Utah Center for Excellence in ELSI Research (UCEER) will conduct strategic planning for ELSI research, training and mentoring, and conduct two pilot projects. The focus of the UCEER will be population screening for genetic conditions in the health care of women and children. Our specific focus will be prenatal genetic screening and newborn screening. We will build on our strengths and experience to develop a collaborative, transdisciplinary center for research and training in ELSI issues.

This application is to fund the University of Utah Center of Excellence in ELSI Research (UCEER). The University of Utah has a strong tradition in human genetics and ELSI research and this proposal will build on our successful development and management of a P20 funded CEER. The proposed UCEER will focus primarily, although not exclusively, on issues relevant to population screening for genetic conditions in the healthcare of women, children, and young families.