The overall objective of the proposed research is to study the ethical, legal, and social implications of drug responsive genetic variations, especially where significant differences have been found based upon race, ethnicity, and gender. The research will focus on four elements:

This project will combine empirical investigation with ethical and policy analysis, employing a range of methods: systematic review of the scientific literature and of tobacco industry documents, interviews with stakeholders, ethnographic research at scientific meetings, and a multi-disciplinary, national Advisory Board.

Research is currently underway that seeks to deepen our understanding of the role of genetic factors in substance dependence and response to treatment. In order for the potential benefits of emerging research to be realized, it is crucial to begin understanding how members of different racial/ethnic groups comprehend, interpret and respond to information about the role of genetics in addiction and treatment response, and in particular to reported racial differences in the frequency of alleles hypothesized to increase susceptibility to addiction or affect response to treatment.

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.

The purpose of this study is to contribute empirical data and critical analysis relevant to patenting and licensing of DNA sequence patents, focusing on genomic diagnostics. Recent survey data suggest that patents have generally not impeded research, but note that problems may arise in the area of diagnostics. Technologies for sequencing, genotyping, and gene expression profiling have created new classes of genomic diagnostics that can simultaneously test thousands of genes for mutations and variations, or for expression level differences.

Genetic researchers are rapidly adopting methods of whole exome and whole genome sequencing to identify the hereditary bases for human disease as the cost of sequencing rapidly declines and the pipelines for analysis and databases of normal variation become available and more robust. Although most researchers have focused on particular diseases, comprehensive genome analysis also provides data about susceptibility to hereditary conditions beyond the original study aims.

The Clinical Sequencing Exploratory Research (CSER) and Return of Results Consortium (RoRC) programs are designed to investigate critical questions about the application of genomic sequencing to clinical care of individual patients, from generation of genomic sequence data, to interpretation and translation of the data for the physician, to communication to the patient, including an examination of the ethical and psychosocial implications of bringing broad genomic data into the clinic.