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.

Autism is a complex lifelong neurodevelopmental and behavioral disorder that manifests in infancy or early childhood. Although the causes are still unknown, the data suggest that autism and Autism Spectrum Disorders (ASDs) are likely due to genetic and environmental effects. Differences in culture, socioeconomic status, environmental exposures, access to health care and other factors may influence the expression of the underlying genetic architecture and lead to alterations in prevalence and clinical severity.

The Human Genome Project and the International HapMap Project have produced significant resources for understanding the genetic bases for health and disease, including identifying genetic variations, genetic mutations, and genomic functions. The interpretation and reporting of findings from these resources have direct and immediate implications for researchers, the news media, and the general public. Knowledge gaps and low health literacy limit how well many people understand health and genetic information and can therefore influence their decisions and actions.

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.

The proposed project explores a new direction in our larger research on the use of human genetic variation studies in the search for biomedically related genetic markers. Broadly, the aim of the new add-on project and the original project is to understand how human genetic variation researchers operationalize the concept of "a human population." Together, these studies will provide empirical information that will help geneticists and bioethicists to understand whether there may be potential downstream social and biomedical consequences of different conceptualizations.

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.

Methodological advances now permit the use of genome-wide association studies (GWAS) to discover novel genotype-phenotype associations. GWAS offer a powerful tool for identifying genetic contributions to both common and rare diseases. At the same time, GWAS raise profound and challenging ethical questions. The most pressing questions derive from the likelihood that GWAS will uncover genetic information with the potential to be clinically meaningful to individual participants.

This qualitative, ethnographic project addresses a "Grand Challenge" for the future of genomic research and a NHGRI ELSI Research Program priority area: the analysis of the impact of genomics on concepts of race, ethnicity, and individual and group identity.

The U.S. civil rights movement took place nearly a half century ago, yet significant racial disparities persist in health and justice. The elimination of these disparities is a goal shared by many, including biomedical researchers, medical practitioners, legal scholars, and attorneys. The way in which Americans conceptualize race is more nuanced than the categorical perspective that dominated the early 20th Century. Racial discrimination is itself a health risk factor and known to vary by appearance (e.g. skin pigmentation).

Chromosomal Microarray Analysis (CMA) is a genome-wide technology that allows for identification of genomic alterations, such as deletions and duplications, at an unprecedented resolution. However, many genetic variations are identified that have unknown or uncertain clinical significance. New clinical guidelines recommend CMA testing for children with Autism Spectrum Disorder (ASD). ASD is one of the most common serious developmental disorders, found in almost 1% of children in the United States.