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.

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.

Genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations is part of routine clinical care for women with a family history of breast or ovarian cancer. However, a mutation in these genes is not identified in most women who pursue testing. Such "uninformative" results do not rule out the possibility of an inherited susceptibility to these cancers. The absolute risks for breast and ovarian cancer are heterogeneous and must be estimated based upon an analysis of the family pedigree.

As evidenced by the endless reports of new discoveries in genetics and genomics over the past few decades, the public's views will substantially influence the uptake and use of these new applications for personal and societal benefit. Informed decision-making regarding the use of genomic applications will depend on public understanding of both basic scientific concepts and social implications to enable consideration of personally significant risks and benefits. Furthermore, informed publics are critical for the large population studies often required in genome sciences.

This application proposes to assess the societal impact of genetic tests offered directly to consumers (DTC) and to develop policy options for DTC oversight that will balance the benefits of promoting availability of tests that can have a positive impact on public health and preventing harm to the public as a result of misleading claims, inappropriate tests, or inaccurate test results.

Evolving intellectual property (IP) policies of governments and organizations are impacting biotechnology sectors and access to genetic materials for development of pharmaceuticals. The National Institutes of Health, through the Human Genome Project among others, specifically recognizes the need for policy options in the area of intellectual property to facilitate the widespread use of genetic and genomic information in both research and clinical settings.

Many genotype and genome-wide association studies (GWAS) are conducted using a phenotype-driven approach: cases and controls are identified based on the presence or absence of a particular condition and analyses are undertaken to identify gene variants associated with that condition. The inverse--a genotype-driven approach--is receiving increasing attention as another powerful tool for understanding the impact of genetic variation.

The Ethical, Legal and Social Implications (ELSI) Programs of the National Institutes of Health and Department of Energy were established to address ethical and related issues raised by the Human Genome Project. A stated goal of the ELSI program has been to influence policy related to the ethical, legal and social issues raised by advances in genetics. While there have been several attempts to measure the degree to which the ELSI program has achieved this goal, there has not been a systematic assessment of ELSI's impact on policy.

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.