Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person. The Precision Medicine Initiative (PMI) was recently launched by the NIH to accelerate the pace of discovery. Though initially focused on cancer, the PMI will eventually generate knowledge applicable to a range of diseases, including infectious diseases.

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.

Epigenetics has become an area of growing interest for scientists, physicians, policymakers, and the public. Referring to molecular processes that alter gene expression without changing DNA sequence, epigenetics suggests that factors including diet, toxins, stress, trauma, and parental care may have lasting impacts on intergenerational health. These claims have brought renewed attention to the implications of epigenetics for understandings of health, disease, and individual responsibility.

The advent of clinical genome sequencing to identify patients at risk for serious diseases and to tailor treatments promises to greatly improve health outcomes and provide a foundation for the delivery of Precision Medicine. However, even as laboratory methods to perform sequencing become highly efficient, uncertainty around the optimal breadth and economic value of sequencing as well as ambiguity around which individuals should be tested presents a critical barrier to wider use.

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.

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.

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.

The volume of international research in sub Saharan Africa is increasing largely because of the continents unique high burden of diseases such as malaria, HIV and more recently non-communicable diseases. The continent also faces emerging global health challenges such as Ebola and Zika virus all of which will require testing of new medicines, medical devices or understanding the pathophysiology. Many studies now include complex research such as genetic testing.

The lack of American Indian and Alaska Native professionals in genomic sciences today highlights the tremendous need for effective training and research programs to prepare the next generation of Native students to be successful in their pursuit of careers in genetics research. Early and meaningful exposure to degree programs and research experiences are critical for the inclusion and advancement of Native students in establishing pathways toward careers in genomics.

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.