Academics & Research

UCEER

UCEER Aims

The University of Utah has a strong tradition in human genetics and ELSI research. The proposed Center in Excellence in ELSI (Ethical, Legal, & Social Implications) Research (CEER) will build on our strengths and experience to support a collaborative, trans-disciplinary center for research and education in ELSI issues.  

Our proposal builds on our successful development and management of a P20 funded CEER. A particular strength of our proposed center is the involvement of faculty from the College of Law and the Center for Law and Biomedical Sciences.

The University of Utah Center for Excellence in ELSI Research (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. Issues in genetic screening are important for a variety of reasons, most notably the large number of people impacted by these services. Newborn screening is conducted on approximately 4 million infants per year in the United States and represents the single largest application of genetic testing. With respect to prenatal screening, contemporary obstetric standards recommend an offer of genetic screening to all pregnant women. Therefore prenatal and newborn screening services impact millions of individuals annually and represent important elements in pediatric, obstetric, and family health care. 

Population screening raises different ELSI challenges than those posed by diagnostic or predictive genetic testing in high-risk individuals. In prenatal and neonatal screening, there are dilemmas over professional standards for new screening initiatives, information delivery, informed consent, professional and lay education, cost effectiveness, utility, responses to initial positive results, and communication of results across life stages. Screening raises particular challenges in each of these domains due to the inherent nature of population screening, that is, testing large numbers of individuals for low prevalence conditions.  

A particular emphasis of our proposed center will be issues related to parent/couple information, communication, professional education, confidentiality, and informed consent. These challenges are not new but they are becoming more common and complex as new technologies offer prospects of screening for a much larger number of conditions with less invasive techniques and lower cost per test. The challenges of ELSI research in these domains will be addressed through a trans-disciplinary center at the University of Utah that has extensive expertise, experience, and resources to pursue this important work. 

Specific Aim 1: To Support Trans-disciplinary ELSI Research Relevant to Population-based Screening

The CEER will support intermediate scale studies by affiliated investigators with a broad range of disciplinary backgrounds that focus on issues relevant to population-based genetic screening.  A particular focus will be issues in newborn screening and prenatal screening with an emphasis on enhancing parental decision-making regarding use of these technologies.  Specific topics in this domain of ELSI research will include carrier screening, non-invasive prenatal testing, the family experience with a disabled child, legal liabilities, and newborn screening research.

Specific Aim 2: To Support Trans-disciplinary ELSI Research on Informed Consent and the Effective Communication of Genetic Information

The CEER will support intermediate scale studies by affiliated investigators with a broad range of disciplinary backgrounds that focus on ELSI issues in informed consent, confidentiality, and the communication of genetic information on issues such as genome scale sequencing, return of primary and incidental genetic results, biobanking, and the communication of information between family members and across life stages.

Specific Aim 3: To Support ELSI Education and Career Advancement  

The Center will further develop and enhance the educational and mentorship opportunities initiated by the P20 funded CEER for individuals at the University of Utah across the spectrum from undergraduates to young professionals.  The CEER will support scholars from a variety of disciplines including pediatrics, obstetrics, public health, nursing, philosophy, law, genetic counseling, laboratory medicine, health communication, health literacy, and health disparities to develop ELSI education and mentoring opportunities.  

Specific Aim 4: To Support an Administrative Structure for Trans-disciplinary Research and Education

The UCEER will support an effective administrative structure for the support, oversight, and integration of the research and educational activities across the University for a diverse set of scholars.  We will maintain an administrative structure that includes experienced leadership, communication tools, effective space, functional meeting schedules, and an advisory committee, that supports our CEER leadership, faculty, and trainees.