The goal of the proposed project is to address a well-documented lack of genetics education among health professionals, which is a rate-limiting step in the integration of genetics and genomics into mainstream health care. The five-year project will create and disseminate a set of educational resources for health professionals who are not trained in genetics.

With recent advances in genotyping methods, specifically improvements in DNA microarrays and chip- scanning instrumentation, it is now technically possible and economically feasible to test large numbers of patients for several thousand known mutations associated with Mendelian disease phenotypes.

Criminal DNA profiling could soon include phenotypic markers for attributes such as eye, skin, and hair color, gait, ancestry, and predisposition to behavioral traits such as smoking. This technology, referred to as forensic DNA phenotyping (FDP), transforms the existing function of criminal DNA profiling from confirming a suspect's identity to predicting it. The field of forensic genetics will have to confront the ethical and social challenges that FDP will raise.

Genetic susceptibility testing for common diseases will become widespread soon and form an integral component of evidence-based medicine and health care delivery. With advances in personalized risk assessments come the added challenges of effectively interpreting and communicating the risk implications of test findings to the public and health care professionals. Genetic counselors are at the forefront of addressing these and forthcoming risk communication challenges.

Pharmacogenetic testing is considered one of the most promising clinical applications arising from genomics research, with the potential to reduce adverse drug responses and improve efficacy of drug treatment. Because pharmacogenetic tests address a specific question about drug therapy, they have generally been viewed as having fewer ethical and social implications than other types of genetic testing. Yet some policy concerns will need to be addressed before pharmacogenetic tests can be introduced appropriately into clinical practice.

Newborn screening (NBS) is conducted on virtually every child born in the U.S. primarily through state-based public health programs. Following testing, there is blood leftover on each child that is retained by many state health departments. Residual samples have been used for a variety of purposes including quality assurance for the NBS programs, forensic testing, and for research. Our project will focus on the potential use of residual samples for biomedical research. Many states are experiencing requests from investigators in academia and industry for access to residual NBS samples.

The proposed project explores how researchers in the new and growing arena of gene- environment interaction (GxE) research operationalize the concept of "a human population." The proposed project will add critical information about how traditional epidemiologists and genetic epidemiologists, using different kinds of data, work together to operationalize groups in their biomedical studies of disease.

We propose an exploratory survey, parallel to the Human Microbiome Project (HMP), of the emergent ethical, legal, and social issues associated with human microbiome research. We will implement this study using in- depth interviews with key stakeholders in the HMP, including individuals who are recruited to the HMP but decline participation, study participants, and investigators and project leaders involved in planning for an conducting the first phases of the HMP.

The relevance of genomics research for addressing health disparities between population groups is currently being debated. As a practical matter, if genomics hopes to have any role in reducing health disparities, its assumptions and goals will have to make sense to the communities involved. We know very little about what underserved and minority communities that are experiencing health inequities know and think about genomic research and health disparities, and how they might inform research plans if they were invited to discuss it. This project seeks to fill that gap.

It is recognized that research on the human microbiome is important for its potential scientific and medical impact. The complexity of microbiome research, however, could change the way that genetics is studied and understood because it calls for a more complex, nuanced framework for defining and demonstrating causality. The understanding of the human microbiome could also disrupt traditional assumptions about definitions of species, self, disease and normality. It is also recognized that microbiome research can raise ethical, legal, and social issues.