Summary: This project examines patients and health professionals understanding of the relationships among race, ethnicity, and genetics. The project utilizes five broad approaches to address these issues: (1)To use qualitative methods to explore primary care physicians' knowledge of human genetic variation, beliefs about the relationships among race, genetics, and disease, and views about the future of genomic medicine (2) The development of a scale to assess health professionals understanding of race, ethnicity, and genetics; (3) To examine researchers' practices and opinions surrounding the use of population descriptors, including racial and ethnic categories, and to characterize their study participants in their genomic research studies; (4) To use quantitative methods to explore primary care physicians' knowledge of human genetic variation, beliefs about the relationships among race, genetics, and disease, and views about the future of genomic medicine; and (5) Explore the translation of genetic and genomic testing (carrier screening) to society. For Aim 1, we have completed 10 focus groups with self-identified black and white general internists. We report in Genetics in Medicine (2009; 11:279-286) that both black and white physicians believed that the race of a patient is medically relevant in clinical practice. Some physicians reported that it was important in providing insights into a patients culture while others stated that it informs their screening decisions (e.g. prostate-specific antigen). Physicians offered conflicting views on the degree of relevance and the specific role of race in clinical decision-making. Our results found that both black and white physicians believe that race is medically relevant, including for therapy decisions, but both groups were reticent to make connections among race, genetics, and disease (Frank et al., JGIM, 2010). All physicians regardless of their own race believed that medical history, family history, and weight were important for making treatment decisions for the patient. However, black and white physicians reported differences in their views about the relevance of race (Snipes et al., BMC Health Services, 2011). For Aim 2, we have developed a preliminary version of the Human Genetic Variation Beliefs and Knowledge Scale (HGVB) and a final version of the Racial Assessment in Clinical Evaluation Scale (RACE Scale). For Aim 3, we conducted in 2008-2009 a pilot qualitative sub-project of genetic researchers, exploring their use of population descriptors in human genetic research, including an experiment in which they had the opportunity to describe and group their study populations in a new way. We used qualitative methods to capture researchers opinions and practices as they think critically about the use of population labels including race and ethnicity in their studies. Understanding individual scientists opinions about the strengths and weaknesses of different population classifications and the influence that research policies have on the use of descriptors will provide important data to help define and facilitate appropriate use of population descriptors in human genetic research (Knerr et al. Journal of Medicine, Law and Ethics, 2011). For Aim 4, we conducted a national survey where we evaluated the final HP GENE Survey with a random sample of 1738 general internists from across the U.S. This is the first survey of its kind to explore physicians understanding of race, genetics, and its use in clinical decision making. A total of 787 general internists completed the survey for a final response rate of 45%. Our confirmatory factor analyses show that the use of Racial Assessment in Clinical Evaluation RACE Scale is an internally reliable measure (Cronbachs alpha = 0.86) of clinicians use of race in assessing genetic predispositions and clinical decision-making. The Phase III survey provided the first quantitative data regarding the integration of new genomic tests in primary care practice. For example, 18% of the physicians surveyed had received at least one DTC genetic test report from a patient within the previous year. Physicians who received genetics training in residency (p-value < 0.05) as well as physicians who rated their own knowledge of genetics as excellent, very good, or good (p-value <0.01) were more likely to report having received such test results. For Aim 5, we seek to inform the current debate on targeted carrier screening programs for sickle cell carrier status (Bonham VL et. al. N Engl J Med. 2010). We are conducting a systematic literature review of the scientific data on clinical complications of sickle cell carrier status. This review will serve as a resource for the scientific, clinical, and policy communities. The systematic literature review study is ongoing. I and my team have identified 3,300 unique citations. After exclusions based on reviews of titles and abstracts, we are including 408 published studies and 250 case reports.