In recent years, researchers from around the world have begun developing repositories of tissues and socio-demographic data for genetics and other biomedical research. These biobanks, often linked with patient health care records, have been an invaluable resource in helping to understand cancer, diabetes, and various genetic-related disorders. The specimens and data are especially valuable when combined and analyzed with specimens and data from other countries, because rare variations can be detected and examined.

Genetic screening for cancer susceptibility (e.g. BRCA1/2) has become a standard evidence-based practice in cancer prevention and has proven to reduce breast cancer morbidity and mortality. Yet, most individuals and families in whom genetic susceptibility is suspected do not have a BRCA1/2 mutation. Research employing next generation sequencing has revealed that mutations in other genes, such as PALB2, CHEK2 and ATM are associated with elevated risks of breast cancer.

Noninvasive prenatal genetic testing, which utilizes cell-free fetal DNA and advances in sequencing technology, is revolutionizing the practice of obstetrics. While currently used as a screen for a limited number of aneuploidies and genetic conditions, noninvasive testing is anticipated to employ whole fetal exome and genome sequencing to identify not only monogenic disorders but also microduplications, microdeletions, and variants of uncertain clinical significance.

Genomic literacy plays a critical role in informed decision-making for genomic testing, in the implementation of the test and the accurate interpretation of the results, and in our policy making process as a society. The National Human Genome Research Institute's 2011 vision for the future of genomic medicine specifically cites the need for both providers and consumers to achieve genomic literacy. Yet despite its importance, there is no effective tool for assessing genomic literacy.

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.

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.

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.

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.

This K99/R00 Award is designed to generate scholarship and interventions to guide genomics companies towards more just practices. It does so through a five-year training and research project, which investigates perspectives from members of the genomics industry, and leverages them to inform normative analyses and identify feasible paths towards concrete change. The project addresses issues of price, access and industrial control, with a focus on the ethics of profit and social responsibility.

Through the combined study of individual variation in genes, environment, and lifestyle, precision medicine research offers the potential for discoveries that will improve human health. Spurred by the declining cost of next-generation sequencing, widespread use of electronic health records, proliferation of wearable devices, and other technological advances, the immense scale required for such research is now within reach. These same characteristics, however, escalate the challenge of protecting research participants.