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.

Advances in technology have led to the availability of genetic testing for a wide range of conditions for healthy or high-risk newborns. It is expected that the funds spent on genetic testing in the U.S. will reach $25 billion by 2021. With the numerous uses of genomic information, understanding the clinical value and long-term impact of genomic technologies on morbidity, mortality, quality of life, and diagnosis and treatment costs is essential.

The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy--especially genomic results for adult-onset conditions that are not medically actionable in childhood. Returning results for adult-onset conditions can spur life-saving preventive measures in the parents of affected children. However, there has been long-standing concern that children who receive a result for an adult-onset condition might experience negative psychosocial outcomes such as distress or altered family functioning.

Stephanie Kraft, JD, is an Acting Instructor in the Division of Bioethics, Department of Pediatrics, University of Washington School of Medicine. She has a background in law and economics and has completed postdoctoral fellowships in bioethics at the Stanford Center for Biomedical Ethics and the Treuman Katz Center for Pediatric Bioethics at Seattle Children?s Hospital and Research Institute. Her prior work includes mixed methods studies related to informed consent and the ethical, legal, and social implications (ELSI) of genetics and genomics.

The purpose of this study is to assess assenting and consenting adolescents choices about learning genomic research results. We will refine existing decision tools and processes to promote informed genomic decision-making through the use of focus groups with adolescents and parents recruited from an existing genomic research study and a diverse, medically-underserved community to assess whether and how recruitment pathways impact perceived value, risks, and benefits of participation in genomic research and return of personal genomic information.

Project Narrative The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy?especially genomic results for adult-onset conditions that are not medically actionable in childhood. Empirical data to support either position in this controversy are, however, lacking.