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.

Individual institutions across the country have worked to support research in a wide variety of areas, including precision medicine research, by developing large biorepositories comprised of biospecimens and health data collected from local patients and controls. However, these local cohorts rarely provide the diversity and size needed to identify and study subsets of patients who share biological mechanisms for their disease, and are thus more likely to respond to the same targeted therapies.

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.

This project will identify and address ethical and practical barriers to qualitative data sharing (QDS) in health sciences research. Qualitative research has unique value in understanding health behaviors and traits that are stigmatized and hidden such as risk factors for HIV or a genetic propensity to addiction. Accordingly, a lot of qualitative data are sensitive, and the data are provided within relationships of trust.

The overall goal of the proposed research is to advance policy approaches to support Precision Medicine research (PMR) with American Indian and Alaska Native (AIAN) people through culturally respectful dialogue, empiric data collection, and deliberation with rural and urban AIAN community members and tribal representatives in Alaska and Montana.

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.

Health-relevant information no longer comes just from electronic medical records but also from the digital footprints left behind when people use mobile applications, search the internet, wear activity monitoring devices, access direct-to-consumer health care testing, or simply converse in social media. Many efforts including those tied to the Precision Medicine Initiative (PMI) are fueling the development of large population-based databases that link clinical and genetic information.

Noninvasive prenatal genetic testing (NIPT) is revolutionizing the practice of obstetrics. However, the technol- ogy is expanding rapidly and in a way that has outpaced the rate at which evidence-based strategies for its in- tegration can be developed and implemented. Initially, NIPT was used as a screen for a limited number of an- euploidies and genetic conditions.

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.