This project employs multiple methods and a transdisciplinary approach to explore policy options for US federal and state governments seeking to address how life, long-term care, and disability insurers use genetic information. The analysis will focus on legal standards of actuarial justification, that is, the requirement that insurers m+R409ust show a statistical correlation between a risk factor and increased cost in order to use that factor in an underwriting decision such as a policy denial or an increased premium.

Being transparent about the use of data collected during clinical care is important to establish trust relationships between patients and researchers. We propose to develop a system to elicit patient preferences for clinical data sharing that takes into account what data are going to be shared and who is going to be the recipient of shared data. Lessons learned from a pilot study indicate that providing such options in a real clinical setting does not result in massive patient withdrawal in data sharing.

Targeted gene sequencing using large panels has become an increasingly important strategy for evaluating disease risk for many inherited diseases. Expanded gene panels are more sensitive than single gene testing and often more cost effective than sequential testing, leading to additional diagnostic and prevention opportunities. However, these panels also identify rare variants of uncertain clinical significance (VUS) in many patients.

With the dramatic reduction in the cost of whole genome sequencing (WGS), genomic data are becoming increasingly available and have the potential to advance public health and promote personalized medicine. However, human genomic data usually carry sensitive personal information making data owners cautious about sharing it and genomic privacy is emerging as a big challenge for the entire biomedical community. In this proposal, we will develop novel methods for genomic privacy protection, which will facilitate genomic research.

Concerns about privacy and personal identity impede use of data about genomic variation, phenotypes, demographics, and exposures from large numbers of people to uncover the contributions of such information on health and disease, knowledge that can improve clinical care. People worry that these data and genomic data in particular, cannot be secured. Many fear that data about them will be used in ways they oppose (e.g., to deny them and those they love access to jobs and insurance) because existing legal rules about such uses are not comprehensive.

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.

Whole genome sequencing has vast potential to improve the care of generally healthy adults by identifying predispositions for disease to facilitate targeted prevention and screening efforts, by informing treatment options when illnesses do develop, and more. It may also cause more harm than good through false-positive findings, through unnecessary monitoring because of incomplete genetic penetrance, and because the conditions identified by genomic sequencing may lack effective prevention options.

Family history is an essential predictor of disease risk, yet it is often incomplete, inaccurate, and underutilized in today's clinical settings. With the increasingly widespread adoption of electronic medical records (EMRs), many individuals are born today into a health system in which many of their family members have substantial longitudinal EMRs. These records present a vast untapped resource for deriving Data-Driven Family Histories - family histories constructed directly from the EMRs of patients' family members.

Using emerging genomic information to create opportunities for targeted or risk-based screening in cancer prevention and control is a critical component of President Obama's Precision Medicine Initiative. But precision genomic screening raises multiple ELSI (ethical, legal, social, and policy) concerns. The proposed embedded ELSI research project presents a unique opportunity to follow and assess the ELSI issues that accompany a pioneering randomized pragmatic clinical trial of a risk-based approach to breast cancer screening.

Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.