Modern genetic research gives us unprecedented ability to understand and manipulate fundamental biological processes. Our growing potential to understand and shape the world in genetic terms also seriously challenges basic beliefs and ethical norms. At the same time, values and norms affect the way genetic research is designed and conducted. Despite the significant ethical and societal implications of emerging genetic research, there are few venues for geneticists to participate in interdisciplinary research and to discuss these issues.

Learning more about the human microbiome is likely to change the way medicine is practiced. It may also have implications for our society and our legal system and important implications for how we conceive and address the ethics of medicine and biomedical research.

The policies of academic health centers (AHCs) for human subjects protection in the collection, storage, use, and sharing of biospecimens and associated data (i.e., biobanking) will have significant effects on the country's capacity to advance genetic science through collaborative multi-institutional research. Variation in policies for core issues such as informed consent to obtain biospecimens and sharing biospecimens and/or data across institutions can impede or prevent collaborative research. Our preliminary data suggest that this is already occurring.

The overall purpose of this grant is to explore the nature, extent and consequences of data-sharing and data- withholding in academic genetics and the other life sciences.

Two major forces in clinical medicine on the horizon are expected to change the paradigm of clinical care. One is personalized genomic medicine (PGM), which seeks to harness knowledge about the genetic endowment of the individual to individually tailor specific medical therapies. The second driving force in healthcare today is to conduct comparative effectiveness research (CER) to directly compare the effectiveness, and sometimes the cost, of alternative therapies or diagnostic modalities for the same disease or condition.

The objective of this training and research project is to develop the candidate into an independent and interdisciplinary ELSI researcher, with the ability to intertwine qualitative empirical with normative approaches to issues in genetics and genomics.

Harvesting the benefits of genomics requires a new kind of transdisciplinary cooperation. Over the next three years, we will create the Center for Transdisciplinary ELSI Research in Translational Genomics (CT2G) to address key ELSI questions in translational research. The proposed Center brings together the unique resources of Kaiser Permanente Northern California (KPNC), including its Division of Research, and the University of California, San Francisco (UCSF), including the Hastings College of the Law Consortium on Law, Science & Health Policy.

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.

The eMERGE project brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources. The primary goal of eMERGE is to develop, disseminate, and apply approaches to research that combine biorepositories with electronic medical record (EMR) systems for genomic discovery and genomic medicine implementation research.